Single Gene Disorders | Ask the Geneticist (SM)


	Question		Date



	My daughter might have tuberous sclerosis. What is the name of the test that is used to determine if she has the mutation? View Answer


	Can a child with alpha - 1 antitrypsin deficiency get the flu mist vaccine or should they get the injectable vaccine for H1N1 or seasonal flu Thanks View Answer		2009-11-13


	my daughter has polycistic kidneys , she had a transplant aged 42, her 38 year son has inherited the disease but is in good health and fit, he wants to have children, would they inherit the disease? i do not have the disease in my familyand my son has not inherited the disease . it is imperative that we know ,could ivf eliminate the gene? View Answer		2009-11-05


	I have venous anomalies in my brain stem called telangiectasia also have a sensivity to florecents mris exrays, have pseudoseizures I also have 3 kidneys and 4 or more uerters I have Cafe au lait spots and three years ago was hit by an illness thats taken me to many doctors .I just returned from the mayo clinic where I was to under go a GAD65 Antibody test but was hospitalized before I could do it. Is it possible that I have Ataxia Telangiectasia. View Answer		2009-10-30


	MY AUNT HAS MILROY'S DISEASE, SHE HAS HAD IT ALL HER LIFE. MY LEGS HAVE RECENTLY BEGAN TO SWELL AND I'M AFRAID THAT I MAY HAVE THE SAME DISEASE. IS THERE A SPECIFIC DOCTOR THAT MAY DEAL WITH THIS DISORDER? IS IT A VASCULAR DOCTOR? DO YOU KNOW OF ANY HOSPITALS IN THE NEW YORK AREA THAT SPECIALIZE IN THIS CARE. I AM SO AFRAID, I DON'T KNOW WHAT TO DO NEXT. WILL MY LEGS STAY SWOLLEN PERMANETLY NOW? View Answer		2009-10-27


	My mother had polycystic kidney disease of which she died from. Her father had the inherited gene but never needed treatment. My sister the first born of my mother has the disease as well as her first born son. We have yet to see if they require Diaylsis as did my mother in her later years of life(around her mid 60"s). My question is: I have been diagnosed with type 1 diabetes at age 50?? And only on oral meds... Searching the internet I found a site questioning MODY 5 associated with a familarial history of PKD??? no one on either paternal or maternal side has ever shown a history of diabetes??? I could be the first ,thus starting a history... someone actually is eventualy the first but is there any corelation between the two?? could not inheriting one disease quite possibly mutate and form to another?? your response is awaited. thank you View Answer		2009-10-21


	What genetically related family members should undergo prenatal testing for Ataxia-Telangiectasia when a child in the family is affflicted with it? View Answer		2009-10-21


	My soon to be fiance had a 24 year-old sister who recently passed away from Cystic Fibrosis. How can I find out if him and I are carriers? View Answer		2009-10-16


	Can PKD skip a generation? View Answer		2009-10-14


	My husband has familial amyloidosis ATTR. Had liver transplant 12 years ago. Observation of strange tooth roots (bulbs on end) after 3 extractions noted by 2 dentists and a hygenist. I cannot find any thing on the web about this. View Answer		2009-10-14


	Hello, My 34 year old daughter who has always very thin and frail has just been told that she has one gene for CF, what does this mean? I thought CF was a childhood disease! What is the prognosis for this condition? thank you for any info. View Answer		2009-10-12


	After a surgery where general anasetic was used, my dad's temp rose to 105 and they had to pack him in ice. When I was 22 I had surgery for an abcess breast (staph) and when I came to, I was being packed in ice because my temp went to 105. I don't know any other details. My doctor said that in the future if ever I had surgery that it was important to tell the anathesiologist about these incidents and that I might have Malignant hyperthermia. Do you think I have Malignant hyperthermia? Thank you View Answer		2009-10-07


	how far cystic fibrosis due to CAVD affects the success of IVF/ICSI and affects the baby ? View Answer		2009-10-06


	My son was just diagnosed with xyy syndrome he also has a diagnosis of Autism spectrum disorder. He has servere behavioral problems and has started lighting fires. He has all the characteristic of xyy but it doesn't seem to explain his extreme hyperflexibilty and his complaints of joint pain and other cronic pain issues.When he is ill he is A symtomatic and shows no signs until he ends up nearly hospitalized.He confuses hot and cold.His father also shows signs of xyy in his appearance and behavior. Are these complications or could there be companion chromosomal disorders? Is ther any treatment for this? View Answer		2009-10-01


	My granddaughter is phenotypically normal but has the CF mutation '3849+10kbC > T". If she is heterozygote will she be significantly affected by the mutation? She is being tested for 1500 CF mutations but not for the wild type gene. Why? View Answer		2009-09-29


	My granddaughter is planning on getting pregnant. She has tested positive for the CF gene. Her husband has tested negative. Her doctor advised that with her only carrying the gene there is a 1 in 940 chance her child would have CF. If both she and her husband carried the gene, it would be 1 in 4. I've read that if only one of them carries the gene it is unlikely their child would have CF. Hopefully, you can clarify this for me. Thank you. View Answer		2009-09-18


	Why is familial hypercholesterolemia more likely a dysfunction of the gene acquired from the mother? This was a question asked in school. Most information states the defective gene can come from either parent or both parents. It is also states females have more abdominal fat but males are more likely to develop CAD, or at least 10 years before a female. View Answer		2009-09-13


	I HAVE HAD MY BLOOD WORK DONE FOR ALPHA1 AND IT CAME BACK. THEY SAID IT'S IN MY BLOOD BUT THE COUNTS ARE NORMALE I AM THYING TO SEE MY DOCTOR BUT THE ONLY OPEING IS NEXT MOUNTH. I JUST DON'T KNOW WHAT THAT MEANS. JUST WOUNDERING IF YOU COULD HELP View Answer		2009-09-10


	My husband was found to have alpha one in his blood but at normal levels.What does that mean?He has had asthma like syptoms for 5yrs and never have been under control.Do our daughters need to be tested? View Answer		2009-09-10


	I was diagnosed with contentital bilateral absence of the vas deferens and blood tests confirm cystic fibrosis carrier gene. I have had digestive problems all my life but they have been really bad in the last 2 years. I am 31 years old. Is it possible to have CBAVD and digestive problems, symptoms of CF, and not have CF. I mean is it possible to not know that I have CF after 30 + years? I thought I was pretty healthy until I turned 29 and that all changed like hitting a switch. View Answer		2009-08-27


	What is your opinion regardng endoscopies for hht with leisionsin the stomach? View Answer		2009-08-23


	My father has autosomal dominant PCKD. My sister and I do not we are in our 40's. What is the likelihood our children should be spared? View Answer		2009-08-19


	My father had alpha-1 antitrypsin deficiency and passed away last October. I just found out from my relatives on his side that he had this disease and it led to his liver problems as well as his emphysema. What are my chances of having this disorder? Is this something I need to be tested for? View Answer		2009-07-29


	I have been suffering chronic diarrhea without cause for around a decade, with possible additional symptoms in childhood. While excluding all normal diagnoses it came to our attention that my fraternal grandmother was once in the hospital for "pancrease(sic) problems" and that my father has been using replacement enzymes at every meal and has recurrent sinus infections. Why would a doctor ask about a history of CF in the family if I obviously do not have CF? Are there relatively benign variants which modify gastrointestinal function? Are there similar disorders which concern the pancreas/liver primarily? View Answer		2009-07-21


	I am a step parent to a child diagnosed with Wilson Syndrome. She was diagnosed at a young age. I am 6 months pregnant with my 3rd child, my other 2 children (boys) do not have this syndrome. I am wanting to know is, what are the chances that the child I am carrying has this and if my children could be carriers of this, since their half sister was born with it? Their half sister being diagnosed with wilson syndrome is this something that I should tell their health care provider, so that it is in their medical hystory? View Answer		2009-07-12


	Can CF manifest itself later in life, Such as in a grade school child? View Answer		2009-06-28


	I have cystic fibrosis, and the profile of my genetic testing says: "Haplotypes BB Homozygous for W1282X." Can you explain what this means? I thought it meant that I carry the W1282X mutation, but I have extremely mild CF and have read that typically severe disease is linked to that particular mutation. View Answer		2009-06-25


	In 1976, a pathology resident told me that I was a carrier for alpha 1 antitrypsin deficiency. (He tested my blood because I had had a CBC and he was looking for any blood to help set up the then new test. 33 years ago the ethics of doing unsolicited genetic testing had not been developed. ) About ten years ago, I confirmed the result and also had normal pulmonary function tests. There is no family history and I am a pretty fit 54 year old. Before we had kids my wife was tested and is normal. My daughter(who is a worrier) is married and thinking about starting a family. Here are my assumptions. My daughter should have a 50% chance of being a carrier. If the condition has a rate of 1/6000 among caucasians, her husband would have about a 1/80 chance of being a carrier and their child would have a 1/600 chance of having the disease. If this is correct, I am not sure that this risk merits discussion. What do you think? View Answer		2009-06-23


	I believe that alpha 1 antitrypsin deficiency may be what afflicted my father-in-law who died in 1990. My question is... when was this name attributed to the disease? Even though my father-in-law was 100% Swedish, and had most of the symptoms listed, neither the Samson Clinic in Santa Barbara nor the Mayo Clinic back east had a name for his problem, and he died after 5 years of horrible lung disfunction. I learned about this deficiency after watching a TLC program, and now I am concerned for my husband and my children. Thank you for your time and consideration. View Answer		2009-06-22


	I have ADPKD and I am participating in a clinical trial Tolvaptan Tempo. I assume that I have PKD1 gene because of the early progress of disease. PKD1 progresses faster than PKD2. Is it possible to get test to see which gene I have? Do you think there will be gene therapy for ADPKD disease in the coming years and if so how far away might it be? This question is mainly for my children who are at risk. View Answer		2009-06-16


	I have a daughter who has been diagnosed with atypical CF. We are calling it a "working diagnosis" because we have only found one of the two mutations and she has a normal sweat chloride test. She has been hospitalized roughly 7-8 times in her life for chronic lung infections that will not clear up with traditional antibiotics. Usually she is sick for 2-3 months at a time. Recently she has been diagnosed with nasal polyps and will undergo surgery next month to deal with the problem. She does not take any enzymes but is definately on the thin side-but is also 5 ft 10-so she is certainly thriving. I would like to know more about the atypical types of cf. In other words, are there people who don't test positive for the sweat test and who don't take enzymes but still have cf? What are the possibilities in terms of undetected mutations? View Answer		2009-06-11


	have a question, I'm hoping you can answer. My dad had Alpha 1Antitrypsin Deficiency who passed away 8 years ago. His genetic type was ZZ. I am an MZ, I want to do whatever I can to help Alpha 1's who are suffering, do you know if it is safe for me as an MZ to donate plasma? Your response is appreciated. View Answer		2009-06-08


	i have recently discovered my melungeon roots and suffer from FMF and/or MJD (along with several family members) and cannot find a doctor who is willing to test or treat me, and i have GREAT health insurance (2 major policies, in fact).....Mayo and UF said it was in my head, but 300+ hospitalizations for crazy high fevers and spinal pain and kidney distress suggest otherwise....please help me find a competent physician or geneticist.....i am desperate for appropriate medical care, given my 'founders flaws', copper colored skin and indian eyes....PLEASE anyone! View Answer		2009-06-04


	Our 31 year old son has hereditry haemochromatosis, with C282Y HFE Gene mutation,homozygous.We wonder how well the liver metabolises alcohol when one has this condition? Currently he has monthly venesections,but the serum Ferritin remains high.My main concern,I am a nurse, is that I note his GGT and MCH are way above normal also, so I suspect he has been drinking more than he should, hence my questions.Would of course appreciate your advice and input. Would this elevate his blood alcohol level if subject to breath testing if driving a car,compaired to a person with out this condition,as this is a major concern for his Dad and I. Thankyou View Answer		2009-05-31


	I am a healthcare provider and the parent to a daughter who has recently been found to be genotype MZ with a conf. test. The interesting thing is that I did the first screening on myself at the same time and my genotype came up MM. Is this possible? We have not typed her father yet as we are divorced and he lives several hours away. My daughter is 26 and having nocturnal hypoxia, tachycardia at rest and at random other times, which is what brought us to do this test. Should I be retested with a more confirmatory test? Or will it really matter as far as finding out what is going on with my daughter? View Answer		2009-05-27


	My daughter was diagnosed with AIS when she was 16. Her ovaries and falopean tubes were removed (all had cancer except 1 tube). All other organs were in tact and healthy. Since the surgery, she can/does have periods when she takes Yasmin or similar drugs. She is 20 now and has very painful intercourse which causes pain not only during intercourse, but for several days afterwards. She uses lubricants and has found that soaking in a hot tub for 30 minutes after intercourse helps a little. She also has a lot of pain that lasts for several days after a standard female exam. She indicated the pain starts at and is severe at the opening (point of entry) and inside. Has this been studied as a side effect of the surgery or AIS? Can you offer any suggestions to minimize/eliminate the pain? Thank you. View Answer		2009-05-25


	Dear Geneticist, Is there a commercially available genetic test for Tangier Disease? If not, what sorts of labs have the means to do such a test for such a disease? Thank you View Answer		2009-05-23


	What are the questions my children should be asking in order to understand the long-term and practical (insurability, employability...) issues of being a child of an Alpha-1? View Answer		2009-05-21


	Hi there...If someone can please help me with this question, I'd greatly appreciate it. My girlfriend of 3 years and I would like to have kids and the disease Hallervorden-Spatz is present in her family. Her two sisters (1 older and 1 younger) were diagnosed with this disease in childhood. Her 2 brothers (youngest siblings) however do not have it, and neither does my girlfriend. There is no family history of the disease; however, her parents are first cousins (this is unfortunately common in pakistani culture). I am also from the subcontinent- India. Also, just to confirm, neither myself nor any of my family members (including extended) are related to her family. I am concerned as to whether or not this serious genetic disorder will pass onto our kids, and if so, what are the probabilities/chances it will? Any info is greatly appreciated. Thank you. View Answer		2009-05-19


	My son is currently one year old but was diagnosed at 6 months with Chylomicron Retention Disease, Mild Pancreatic Insufficiency, Vitamin D and E insufficiency and Infant Reflux. He currently has TPN (Total Parentral Nutrition) every night for 12 hours, 7 days a week. Apparently there are only 40 cases worldwide and i am concerned that i cannot find any medical professionals who specialise in this disease as i would like more information as to how to protect my child, now and in the future. Can you advise me about the disease and who i can contact as i am concerned about the long term effects i have read about in various medical journals. Thank you so much. View Answer		2009-05-19


	Three of my family members have been tested for Alpha-1 and have been determined to have the MZ gene. My father has smoked, quit and restarted and now only has about 3 1/2 years left. My mom never smoked though she grew up in a house full of second hand smoke. Finally, my 12 year old sister has never smoked and due to asthma my dad rarely if ever smoked around her and never smoked in the house. Is it possible for my mom and sister to go through life without ever developing emphysema? Is it possible for someone with and MZ genotype to never develop any lung or liver problems is my ultimate question? View Answer		2009-05-11


	My 3 year old son has Bassen Kornzweig Syndrome. I was wondering if current studies are underway for intestinal transplants in patients with this disease. i know that they are success with other diseases but wanted to know if they are researching it or already have. View Answer		2009-05-09


	I have several family memebers who have had polycystic kidney disease,, Including mY Grandmother , My Uncle and My father, I am not so worried about myself but I have two sons what are our chances of developing this Disease? View Answer		2009-05-06


	I have identical twins age 18--One twin had salty tasting skin when he was little and if he cried his tears would leave a salt residue,he sweats profusely during activity, and has trouble breathing during exertion. Lung function test normal. He used to have vomiting bouts when he was younger----no diagnosis-would vomit for days. His identical twin has chronic sinus infections---could this be Cystic Fibrosis---if it is possible that it is CF, who would you contact with their age being 18---. Childrens since they have a genetic department? View Answer		2009-05-04


	My sister is in the hospital with a blood clot in the bowel. She has Alpha-1, (just diagnosed) is 59, has liver cirrhosis and her liver is shrunken. She has a cough but the doctors say her lungs are good. My question. My blood test showed normal levels.The doctor said I should have my children tested. Everything I have read says that both parents have to carry this in order for it to be passed down. Is that correct? Also, the doctor is telling us that blood clots are a result of the Alpha-1. Is that correct? Worried sister View Answer		2009-04-12


	Hx: I have Malignant Hyperthermia, MH, (via muscle biopsy) and coincidentally I also have an elevated Macro CK Type-1 Level. That being said, I have a couple questions: #1) Could you tell me the main symptoms of "myopathic carnitine palmitoyltransferase II?" ((because it appears as though, from what I can tell, some of the muscular symptoms are similar to the muscular symptoms of MH's Awake Symptoms....)) #2) Does there exist a relationship between m-CPT-II and Malignant Hyperthermia?....or is it likely that my Macro CK Type 1 level is coincidental? I thank you in advance for your assistance. View Answer		2009-04-05


	Is it possible to identify multiple mutations on a chromosome for a cystic fibrosis carrier. For example would a child of a carrier display multiple mutations for Delta F508 and I348T and still be a carrier or would this result in a diagnosis of CF? View Answer		2009-03-25


	Does an Alpha One antripsyn level of 0.26 grams per liter in an infant indicate that the infant definately has AATD? View Answer		2009-03-23


	Hi there, I was wondering if you would be able to give me some information on the genetic basis of diagnosing conditions such as CF? View Answer		2009-02-23


	Where can I find specific information on Francis Collins' identification of the gene for cystic fibrosis and Huntington's Disease? View Answer		2009-02-22


	Dear Sir and Madam, I have a son 14 year old. From before 15 months have increased liver enzymes. Also, made the biopsy of liver and penicilamine test which show the increased copper, in the cell and in urine. Doctor decided that it is better if he take medicine for Wilson disease. In the laboratory for genetic analysis in Croatia and in Austria the test was negative. Before pair days, we sent the blood in Cagliari ? Italy. I received the information that in Croatia made control of 2 genes, in Austria made control of 20 mutation of gene and in Italy 90. How existing cc 300 mutation of gene of Wilson disease, please could you send me the addresses of laboratory in USA which is able to control all mutation? View Answer		2009-02-18


	I was diagnosed with FMF @ 46. I had years of pain with my period, I was successfully put on the pill to stop that and it worked. I had episodes of pleurisy. I never had abdominal pain until 46. I had a complete work up, and after genetic testing (because both my parents are Sephardic) I came up positive for FMF I am M694v/V726A heterozygote. I am on one colchizine (0.6) daily for three years, and have done great. My kidney function is normal, and they check urine for protein every six months. Everything is normal except at my last physical my dr checked my c reactive protein and it was elevated (10.8). Is this common? Is this anything to be concerned about? I was on two a day, and at that time my c reactive protein was normal. My doctor wants to keep me at one a day because two cause my liver function to be slightly higher than normal. Thank You. I am otherwise very healthy. View Answer		2009-02-12


	can a fetus develop polycystic kidney disease from infrequent use of i painkillers or street drugs? View Answer		2009-02-11


	i am the partner of a 27 year old male sufferer of Cystic Fibrosis with congenital bilateral absence of the vas deferens caused by CFTR mutations. i have recently seen multiple citations of information implying that CBAVD is characteristic in atypical presentation of CF, however i have been unable to acertain whether the likelihood is that the cystic fibrosis is itself atypical when these fertility issues are present or simply the absence of the vas deferens when caused by CFTR mutations is classified as an atypical presentation of cystic fibrosis when no other symptoms are recorded. i would greatly appreciate your assistance in this matter. View Answer		2009-02-11


	PKD runs in my family. There is a long line of people whom have already been diagnosed, including my uncles, aunts, and grandmother(who is currently on dyalisis and has had a brain anurisum due to the disease). My mother, brother and sister carry the gene as well. When they were tested they were told they have a mutated version of the gene. What exactly does that mean? Nothing was explained to them when they got the results. I know that there is a 50% chance I could have it as well. I unfortunatley haven't been tested yet. I too have a child and would like to know what may be on the road ahead if I get the same results. View Answer		2009-02-06


	I am 66 years old and have many of the symptoms and family history of hereditary hemmorhagic telangiectasia. Will medicare pay for genetic testing to aid in management of this condition. Thank you. View Answer		2009-02-05


	I am 39 and engaged to a man who is 41. We want to try to start having a family fairly soon given my age. (We are getting married in Oct. 09). My brother is mentally ill (most likely schizophrenia) and I have an aunt that most likely has it as well. My fiance had two sisters with cystic fibrosis and has two sisters that don't have it. Can I be tested or do both of us need to be tested. He currently lives out of town during the week which is why I'd like to come be tested first. View Answer		2009-02-05


	Please help me,I have PKD I was 48 years old when I was told me kidney's failed I am 50 now and looking for a live donor my sister who is 33 has been tested and they told her she was a 95% match but did find a small cyst on her kidney which they say doesn't look like it is Polycystic but of course they want to make sure so they want her to do another CT Scan in 6 months my question is if the can tell in 6 months why cant the tell now View Answer		2009-02-05


	My husband has twin sisters who are afflicted with Tuberous Sclerosis. So far as we know, my husband does not have the disease. We have one child who does not have it and are trying to conceive another child. We were told that so long as my husband does not have the disease that our children have no more statistical chance of getting the disease than any other child whose parents do not have TS. My husband shows no external signs of having TS (skin tumors or lesions). If he did have it and has gone undiagnosed for over 40 years, would our other son have gotten it? Should we consider a DNA to eliminate all doubt. View Answer		2009-01-22


	My father-in-law has just been diagnosed with Alpha-1 antitrypsin deficiency. He is 73 years old. He was diagnosed with pancreatic cancer last year and on Dec. 2, 2008 had his pancreas, spleen and gallbladder removed. His recovery was going well until he got the C diff. bacteria and developed pneumonia. It was only then that his bilirubin began rising. All biopsies on his liver have been good. His pulmonary function had been good prior to the surgery. On a hunch the doctors did genetic testing and found the AATD. My question is: should my husband and children be tested for AATD? Can it be treated, medicated? Prognosis? Thank you. View Answer		2009-01-21


	I have alpha1. My question is whether this can affect my heart? My mother, brother and uncle all died from congestive heart failure. Am I at risk for that disease? View Answer		2009-01-19


	Mam 3 deti. Najstarsi je syn, dve mladsie su dievcata. Obidve maju diagnozu ataxia teleangiectasia. Aka je pravdepodobnost, ze aj synovi sa mozu narodit chore deti? Dakujem View Answer		2009-01-18


	where facility for conformation of infantile systemic hyalinosis is available for patient and parents. give me detail and its cost. sample required for diagnosis. View Answer		2009-01-06


	My mother had PKD (polycystic kidneys) and both of my sisters have it. An utrasound of my kidneys shows that I do not have it and my husband does not have it. Is is possible for my daughter to have PKD? View Answer		2008-12-31


	My husband and I are both healthy adults pregnant with our first baby. I was originally tested and it was discovered that I have a mutation for CF. My husband was then tested and he has a different mutation for CF. What are risks to our baby? Would you reccomend us having an amino? Thank you so much, View Answer		2008-12-08


	In order for person to be a CF carrier, does he/she need to get a carrier gene from BOTH his/her parents? View Answer		2008-12-03


	If a patient has polycystic kidney disease and has a kidney transplant is there any way that the new transplanted kidney can get PKD? (I know that sometimes a kidney with PKD will be transplanted with the patient's knowledge but my question is for a transplant with a kidney without PKD). View Answer		2008-12-01


	my husband was recently diagnosed with familail mediterranean fever .we were told that he is a heterozygous positive . i need to know if and how it could be inherited by either of my 2 sons. they are 12 and 16 . thank you. View Answer		2008-11-29


	IF ONE IS DIAGNOSED WITH POLYCYTIC KIDNEYS AND IS 39 YRS OLD. dOES HIS CHILDREN NEED TO BE SCREENED. IWOULD LIKE TO KNOW ABOUT THAT. View Answer		2008-11-27


	Hi, My daughter is 3 years old and she was diagnosed with Cystic Fibrosis in July 2008. Her genes are df508 and p.Val520Phe and i would like to know abit more about them in regard to gene therapy, are they common, more severe than other defective genes etc. I would also appreciate if you could give me any information on Pre Genetic Implantation as we are looking into this in relation to having another child. We already have another daughter but she has not got CF. Id be very grateful for any help you can give me. View Answer		2008-11-12


	My mother was diagnosed with cf (im not sure which strand) at birth and suffered her entire life with the illness and its effects. I was told that I am a carrier for it (once again not sure what strand or mutation), but my concern is that I am ttc and am worried if since my mother had it if my children will or if they will be carriers. View Answer		2008-11-08


	Is there a relation between gender and familial Mediterranean fever? View Answer		2008-11-04


	My 7 month old has just been diagnosed with alpha-one antitrypsin dificiency and we are just trying to figure out what this means and more about the disease. I am curious... Both of my uncles on my moms side of the family have Hepatitis C and I am wondering if there is a connection with Hep C and alpha-one or if sometimes one can be misdiagnosed for the other? My uncles have both under treatment and one is showing "non-detected" and the other one showed "non-detected" for six months after the treatment and now is showing extremely high counts again. It just seems strange to me that there are 2 rare liver issues in my immediate family. My son just had the liver biopsy last week that showed some issues and we are trying to figure out where to go from here. Thank you for taking time to respond! View Answer		2008-10-23


	My brother & I are ZS. Iam 60,he is 59. 2 of my children, 1 grandchild are MS. The rest have not been tested. 1 of my children smoke, severe asthma, hayfever, productive cough. What are his chance although he is a carrier? He is MS. Does this disorder skip generations? My older sister died of CA at age of 47,1993. Her kids are MM.I was the only child with asthma since 4th grade. I noticed SOB at age 30. Diagnosed age 45 with COPD. Just found out about disorder about 6mo. ago. We get prolastin 1x wk, in process of qualifying for lung transplants. View Answer		2008-10-13


	What if you were just dx. with AAT and also found out that you were pregnant. What are the risks and tx. in being pregnant. View Answer		2008-09-29


	My father was diagnosed in 2001 with polycystic kidney disease. He was 78 at the time, he passed away in 2007, (age 85). At the time, I was told that "each child of a parent with PKD has a 50-50 chance of developing the disease". Given those statistics, my brothers & I (all in our late 50's) sometimes wonder which of us will develop the disease. Is there a reliable genetic test for PKD? Also, does the NIH sponsor any genetic testing? Thank you for your time & attention. View Answer		2008-09-27


	I am a carrier of the gene mutation for CF and pregnant. We are awaiting my husband's test results. I have read that if both parents are carriers, then the child has a 50% chance of having CF. I have also read that there are many different mutations of the CF gene. My question is whether each parent must be a carrier of the same exact gene mutation in order for the child to have a 50% chance of having CF? Or, if both parents are carriers of different CF gene mutations, will the baby still have a 50% chance of having CF? View Answer		2008-09-25


	I have PKD1 and would like to know where I can have my two daughters genetically tested for the disease. My oldest daughter is 21 and the youngest is 14. I am close to needing a transplant and my oldest wants to donate if she can. We recognize that a negative u/s prior to age 30 is not exclusive of the disease (she had one at 14 that was negative). I don't want her to donate if her sister has the disease, therefore I would like to have both of them tested so that she can make the best decision possible. Thank you for any information you can give me. View Answer		2008-09-22


	I have a grandson with alpha 1/he has very severe liver dx and will probably require transplantation during childhood.I am his paternal grandmother.Ihave just been to a physician for recurrent lung problems..ie frequent pneumonias,shortness of breath;i have also been a smoker for many yrs.ihave a nodule in the right lower lobe,however the physicians don't seem to think this is cancer as it is very dense on CT scans,it has two long 'legs' but is not an AV malformation.pending biopsy in about a week,this was just found on xray this week.Does apha 1 ever cause nodules/or lesions? should i be tested for alpha one? not sure of the course to take ...please help. View Answer		2008-09-22


	What percentage of persons with asymptomatic polycystic kidney disease go on to develop renal failure? I have a patient who had this disease but did not know it and was involved in a traumatic injury, subsequently developing acute renal failure. She was born 11/7/1948 so she was 58 when she was injured. Would her age have factored? View Answer		2008-08-04


	Hi, I recently saw a genetic councelor to test for CF mutations. My brother had fertility issues and was tested for CF and it turns out that both of his CF genes are mutated, one is CBVAD and I am not sure of the other one. My brother has no other signs or symptoms of CF. It was suggested that I go for testing as well. Turns out that I have the 2 exact same mutations - one CBVAD and the other I cannot remember. I have never exhibited any signs or symptoms of CF. How can this be? Thanks for your time. View Answer		2008-07-28


	I have polycystic kidney desease and only one of my sister doesn't have the condition ( 3 in total counting me) and my sister want to know which is the probability of her passing the desease to her daughters or future generations. View Answer		2008-07-17


	My son was recently tested for anti-trypsin. The test reading was 153. The doctor said he believed it to be a normal reading...My confusion stems from a serum anti-trypsin activity test I took in 1983. The result was 240 mg %. I was told then, "a perfectly normal result would be a level of greater than 250 mg %." I was also told, "Severe emphysema is associated only with very low ranges of this enzyme, i.e. 50-100 mg %." (My mother and her 3 brothers all developed emphysema at an early age. I now understand that liver disease is also associated w/a deficiency. I contracted hepatitis in college...) Questions: Is my son's doctor reading the test correctly? My son's urologist can't explain protein in my son's urine. Could this be related to anti-trypsin? ...Please help. View Answer		2008-07-08


	Dear Sir/Madam I have a son with (www.mct8organization.org) I have a 10 week old baby girl and an older girl of 15. He has a endocrine appointment next month, at this appointment the girls are going to be tested for the syndrome. I know it only effects boys, and my eldest is absolutely fine. I am worrying, but have you ever heard of any girls that have been effected by the condition other than having thyroid problems. Many thanks for your time View Answer		2008-07-04


	my daughter who is pregnant tested negative on her cf screening test. Since her sister had cf should more genetic testing be given to her. View Answer		2008-06-27


	My mother's sister recently had a kidney transplant due to PKD. Her son (in his 40's) had a sonogram and also already has cysts. My mother is 75 and had a sonogram but doesn't show signs of the disease. Since my mother is "clean" and assuming my father doesn't carry it, does that mean I have no chance of getting it? Or, is it possible it didn't form in my mother but that I could still have inherited the mutation that causes PKD from my mother, even tho she doesn't have signs of it? I ask because my 13 year old son has had some abnormal blood tests and I wonder if it's possible it's passed down to him somehow. View Answer		2008-06-20


	I have a daughter who is 30 years old and pregnant. She oppted for the genetic testing. Now the test has come back that she is a carrier for CF. There is no history of CF in either of us have any history of CF. Both of us are willing to have a blood test to rule this out. View Answer		2008-06-18


	I was wondering how long a child with Ataxia Telangiectasia will live and how can they be as comfortable as possible? How soon do they expect a cure to come about for this disease View Answer		2008-06-06


	my two year old child has cystic fibrosis. delta 508. just recently he has been diagnosed w/ having vitiligo. his primary care physician doesn't seem to think the vitiligo is a very big deal but i am a little worried. i have researched a little and know that vitiligo can be caused by vitamin insufficiency or diabetes. is there a genetic connection between cf and vitiligo? should i have any concerns? View Answer		2008-06-01


	I saw an article in the local news regarding malignant hyperthermia. During a recent dental procedure, after being injected with local anesthetic, I experienced similar symptoms: rapid and irregular hearbeat, shortness of breath. Could routine dental anesthetic and these symptoms indicate that I may have this MH gene? I am due to undergo further dental work soon and am concerned about experiencing this again. Thanks View Answer		2008-05-31


	I have been confirmed to have Tangier Disease, but I also have bone and muscle control problems and a shrinking or smaller kidney. Is it possible to have more than one genetic problem? How would I find out? Thanks View Answer		2008-05-26


	a NEWBORN IS DIAGNOSED WITH THE CYSTIC FIBROSIS D508 GENE AND A RECESSIVE GENE. THIS CHILD DOES NOT HAVE THE CLASSICAL CF, BUT DOES HE HAVE CF? HE IS NONSYMPTOMATIC. HE WAS BORN PREMATURELY AND HAD A BOWEL OBSTRUCTION. MY QUESTION IS THE DIFFERENT CATEGORIES OF CF/ AND PROGNOSIS. View Answer		2008-05-20


	I (age 37) have suffered from obvious allergies, chemical sensitivities, and asthma, and frequent respiratory infections. I always have excessive and thick mucus in my airways. In my teens I started to suffer from chronic constipation. My mom (age 62) has scleraderma and my sister (age 34; who's pregnant) just found out she, although apparently unaffected, just found out through genetic testing that she has a mutation for cyctic fibrosis. Is is possible that I may have the same mutations and that it is contributing to some of my problems? I appreciate your time and consideration. View Answer		2008-05-16


	My sister, who is currently pregnant, tested positive for carring the CF gene. Since my sister is a carrier, what is the likeliness that I also carry the gene? My wife is also pregant (7.5 months) and she tested postive for carrying the CF gene. We are concerned about our almost term babies health. View Answer		2008-05-14


	I have recently found out that my 28 year old girlfirend has got PKD. I do not know if it is PKD1 or PKD2. She has not developed any symptoms of the disease but her 33 year old brother is subject to hemodialysis, her mother died after kidney transplant while her 38-year old sister has a healthy child. All have allegedly PKD. If I wanted to have children with her what is the probability that my children will develop PKD assuming I do not have PKD myself? Many Thanks. View Answer		2008-05-09


	Two of my grandsons have been diagnosed with Wilson's disease in the past few months. They are brothers and the eldest had a liver transplant yesterday at Children's Hospital in Pittsburgh, PA. Since we don't know whether my husband or I is the carrier of the gene, shouldn't we get tested so that we can warn not only our other grandchildren but neices and nephews on either side of the family? I'd hate to know that we didn't warn the right people and have it diagnosed too late like with my grandson and then have to have this terrible operation. Thanks for your help. View Answer		2008-05-06


	I have tested positive for the R117H, 7T/7T form of CF. My husband has tested positive for F508. Do we both have to test positive for the same mutation in order to have a child that will have CF? I realize there is a greater chance that the baby will be a carrier, but since we are carriers of different mutations is there a chance of the baby suffering with CF? View Answer		2008-04-30


	I have 3 children. During a screening when my daughter was pregnant it was discovered she was carrying a recessive gene for cystic fibrosis. I subsequently tested my 2 sons, and they both carry this recessive gene. Would both their father and myself carry this recessive gene or only 1 of us, in order to have passed it on to all 3 of them? If only 1 of us would need to have this recessive gene, would it have been passed on by the mother only, or either parent? View Answer		2008-04-29


	My husbands brother has polycystic kidney disease. My husband is 63 and he has no symptoms. His sister does not have the disease but we just found out that her two sons have the disease. There is no such disease in my family. What are the genetic chances of my son and daughter having this disease? They are 23 and 25 years old. Should they be tested? Should my husband who is now 63 be tested? If necessary, what kind of testing. Your information/guidance will be greatly appreciated. View Answer		2008-04-29


	My mom's sister has Polycystic Kidney Disease. Do I need to be tested? View Answer		2008-04-29


	I am currently six months pregnant. I recently found out that I am a carrier for cystic fibrosis. My doctor told me that my husband needs to be tested to see if he too is a carrier. If he is what does this mean for our unborn son? Is he garunteed to have cystic fibrosis? Or is it just a chance? View Answer		2008-04-23


	dear sir,please give an answers for listed questions. 1.through hypokalemic perodic paralysis is it possible todo an work in private companies with more physical activities. 2.ihave herd after 50years the permenant muscle weakness during an permanent wekness is it posible to continue our work. 3.is there any chances through this to held in a wheel chair. 4.through this disease can you work independently with out taking any help from others. View Answer		2008-04-23


	I come from a large family with a history of MH. In ~ 1980, all of my uncles and aunts from my dad's side underwent muscle biopsies at the Foothills Hospital by Dr Brownell in Calgary, Alberta, Canada. My father tested positive, as did 2 of his brothers and I believe one sister. My siblings and I (7 of us in total) all tested negative. I found this remarkable since each one of us had a 50% chance of testing positive and zero out of 7 did. I have since heard rumours of blood testing which can be done to determine MH. 1. Is this true? 2. Has testing etc advanced since the 1980's and should a person get retested??? 3. I now have 2 children and vaguely I thought the genetics individual had told us that I would have a 50% chance of MH and my children have 25% chance. Is this true or did I get that wrong? 4. Is there any risk for my children?? 5. Should they be tested? Thank you in advance. View Answer		2008-04-22


	I was wondering if you could tell me what it means to have two 7 T Alleles and why you would need genetic counseling for this. Thanks so much for your answers. View Answer		2008-04-21


	This is extremely lengthy so here goes. Diagnosed with FMF @ 15. Now 50. Within last 10yrs developed psoriasis, arthritis, r-hand surgery, r-knee surgeries-4, r-shoulder rtc and labrum tear with pins, gall bladder removed, fibromyalgia, sleep apnea etc. It now seems that all the surgeries I have had I am going to have to have repeated. Also, there are more joint problems that seem to be occuring. Is it possible that FMF has contributed to these conditions? I am at such a loss. I am on so much meds that I am sick of it. Methotrexate 10-2.5mg enbrel 50mg 2xwk 400mg provigil cymbalta etc I do not take any pain meds as they do not seem to work. Please help Thanks sooooooooooo much View Answer		2008-04-21


	How good are the genetic studies for Familial Mediterranean Fever in Chinese kids? Which lab would you recommend? Who in Atlanta has experience with this entity? View Answer		2008-04-15


	Is Hutchinson-gliford progeria syndrome infectious in any way? View Answer		2008-04-15


	my question is : if is any test available for tuberous sclerosis. if you are so kind to give me some adress of nearby laboratory where is performed this test thank you! View Answer		2008-04-14


	My little girl had a tumor in her left kidney and had a partial nephrectomy. She may have TSC according to her dr. She has alot of warts on her hands and one on her head, she also has 1 white patch on her tummy, are all these other symptoms? View Answer		2008-04-07


	My father has Malignant Hyperthermia and so do I. my brother however tested negative. Is there any risk that my nephews could have the disorder? View Answer		2008-04-03


	Hello. I recently read a story where a young woman died from what doctors believe was malignant hyperthermia after being administered some kind of anasthetic during surgery. I am needing nose surgery and am now terrified to go into surgery for fear of dying from this affliction. To my knowledge, there isn't a history of this condition in my family but from what I am reading, that does not mean you are in the clear. I have two questions. Is there a reliable test that can tell a person if they have this condition prior to going under anasthesia? Also, are there alternative anasthetic drugs that can be administered in place of the ones that are known to trigger MH? If so, do most anasthesiologists have these alternatives on hand? If there are alternative drugs then why do anasthesiologists even use drugs that can trigger MH in the first place? View Answer		2008-04-01


	My 6-yr-old son recently had an Left Inguinal Hernia Repair. The surgeon noted the absence of the vas deferens on the left side. Is it possible for the vas deferens could still be present on the Right side, and what tests can we have done to find out? I am assuming a diagnostic arthroscopy, but I would feel terrible to have him go through this now at such a young age. Should I worry that Cystic Fibrosis may eventually develop, or not necessarily so? Where should we begin? Thank you for your time. View Answer		2008-03-26


	I have Familial Mediterranean Fever and belong to an online support group. One of our new members asked if there is a relationship between FMF and autism, i.e., is there a greater incidence of autism in those who have FMF and/or who are carriers of FMF than in the normal population?Thank you! View Answer		2008-03-24


	My friend has had CF his entire life. Right now he is 17 years old and he is very healthy: he takes enzymes with his meals and occasionally wears a mask when he's feeling tight, but otherwise his lung function is usually at 100% and he happily plays hockey and runs and exercises without a problem. He has had a few staff infections and one or two bronchoscopes over his lifetime. Needless to say his CF is probably as mild as one could find, especially seeing the severity of other cases. Since I cannot seem to find a case study that applies to someone as healthy as he is, I was wondering about his life expectancy. CF is a degenerative disease, but if he stays healthy and keeps this up, would it be possible to maintain his current condition or will it inevitably get worse? Do you think he could outlive the 35 year life expectancy? View Answer		2008-03-23


	Dear Sir,i would like to know the chances of having a baby with familial mediterranean fever, i'm pregnant, this is my new baby. i don't have this disorder and no one in my family does, but my husbands' brother is the only one in my husband's family who's got this disease. so i would like to know if there's any chance to have a baby with it or even a carrier for the gene??and my second question, individuals with FMF, are they able to have a baby? 100% normal?please read and concern.Thanks View Answer		2008-03-19


	I would like to know about how this genetic disease of the lungs is treated. I have a lot of lung disease in my family, bleb resections on 2 out of my 6 siblings and some diagnosed emphysema. Is there a treatment for this disorder if found in my family gene's? I have three children and 7 grandchildren and if it is genetic, I want to know if there is any cure or treatment for this disease. I had a bleb resection and have been diagnosed with moderate emphysema myself and had lung tissue removed and analyzed during my surgery and it was tested for cancer and endrometriosis. Is this Alpha 1 in any way related to the endometriosis? our mother claims her doctor told her that she had the liver of an alcoholic, is that any indication of alpha 1 disease? What kind of test do my children, grandchildren and I have to have to find out if we have it or are carrying this disorder? Thank you for anything you can offer me.... View Answer		2008-03-19


	I am pregnant and recently found out that I have the cystic fibrosis gene. Can it be possible that I am the only sibling of three to carry this trait? I have two sisters that have no been found to have the trait. View Answer		2008-03-11


	Is Wilson's Disease a result of; or has any relation to inbreeding within familes? View Answer		2008-03-11


	If both parents are carriers of CF, can you decrease the chances of having a baby with CF with a medical procedure, such as IVF? View Answer		2008-03-06


	I am a 45 yo caucasian male of Irish/English decent (with a little German thrown in). I was diagnoised in 2003 with hereditary Hemochromatosis, and subsequently required a liver and kidney transplant in 2005. I am a homozygote for the H63D HFE mutation;I am a homozygote for the ZZ allele of Alpha-1 Antitypsin. The AAT deficiency was discovered in the pathology of my diseased liver post transplant. Question: Is there any chance of either disease recurring now that I have a new liver? My childern are all hetrogygotes for H63D and are MZ for the AAT gene. View Answer		2008-03-04


	my child has been diagnosed with mediterranian fever or fmf. he had a positive gene i think D148Q. he has the symptoms of this also. he is usually hospitalized because they think its his appendix because of the abdominal pain and fever. its only lasts for several days goes away only to return months later. his attacks always start the same way and begin suddenly. his c-reactive protein is high along with white count and he gets ulcers.my question is why would the D148Q be positive. could it be something else. are you familiar with this test. View Answer		2008-03-04


	I am doing a paper on Wolman disease. I have specific questions to answer and have been able to find answers to most of them. However, I am unable to get information to the following question: How was Wolman disease originally discovered? I hope you can help me. Thank you. View Answer		2008-02-29


	My husband's father had PKD as did various members of his father's family. My husband has been getting checked yearly and doesn't appear to have it. He is 40 years old. We have 3 children ages 6,5 & 3. I read there is a 50% chance of having PKD if one parent has it. At what age does he not have to worry about having PKD? Wouldn't my husband already have PKD identified? Also, if he is not a carrier, what are the chances that my children have PKD? Should my children be checked now? Thank you so much View Answer		2008-02-24


	I am embarrased to ask this and feel a bit selfish and unkind to even think about it but here it goes :( There is a guy who asked me out but before I allow myself to even think about it I need to consider something seriously. His brother has TSC (with very bad symptoms...had to be institutionalized in his teens and was a very hard decision for the family to take). I don't know much about his parents. His mom seems alright, when I saw his dad he seemed a bit "disconnected" or just sort of somewhere else, maybe he was just distracted or concentrated on something else. I just saw them from far away. My question is, is there a way I can know the possibilities of having children with TSC if this guy and I were to consider a serious relationship? View Answer		2008-02-20


	WHAT EFFECTS DOES FOP( FIBRODYSPLASIS OSSIFICANS) HAVE ON THE CARDIAC SYSTEM? I HAVE A 48 YR OLD PT, HER HEART RATE IS RUNNING FROM 100'S-140'S. THIS IS A NEW FINDING. NORMAN HR IS IN THE 70'S. View Answer		2008-02-17


	I was digagnosed with Alpha 1-Antitrypsin after my son, who's 3 was digagnosed with his. His phenotype is sz with his level is as low as 45. He hasn't seen his specialist yet, neither have I. How series would you say his is, his liver enzymes have been very high since birth, mine are within normal limits, I cant remember which phenotype i am, i do know that i'm a carrier and my level is low (87) and my cae total complement ia high (137) Should I be worried about myself as much as I am about my son. I'm not a smoker and I am only a social drinker. Any advice is helpful. Thanks. View Answer		2008-02-15


	I am 48 year old female and 8 months ago it was discovered that I have 4 benign brain tumors. I have a 21 year old son who is a high-functioning autistic. Reading about it, I discovered, my son and I both share quite a few characteristics collectively, with this disease. I came across some information by mistake researching the skin conditions that appeared on me about 2 years ago. They include: white spots all over my chest area, a growth on my forehead and one on my scalp and numerous irregular sized brown spots that the doctors did refer to as cafe au lait spots. My son's teeth despite a lot of dental work have all but rotted away, and in his late teens he had several bladder/kidney infections that were treated with antibiotics. Many years ago, I had a growth removed from under my thumbnail. Would I be unreasonable in requesting that my doctor look more into the possibilty of TS in myself and my son. What should I do next? Thank you. View Answer		2008-02-11


	My husband has a Condition called Asian Flush. We understand that this is caused by a mutation in the ALDH2 gene. We also know it is inherited from one or both parents. His issue is neither parent has this problem and in fact can drink most people under the table. He seems to be the only one with this problem except our daughter. She grabbed a beer once when she was little and drank before she realized it tasted bad. She turned red.We have also read that this gene is dominant. Which brings up a interesting question. Is it possible to have this and pass it on if it is not inherited? Or is his mom not telling us something? Can it skip a generation? View Answer		2008-02-10


	I have two children (19 & 21) with Childhood Hypophosphatasia. I have adult onset Hypophosphatasia. My 14 yo son was also diagnosed with it, however, two years ago I was told that it was determined that he does not actually have it. He has had multiple medical problems since birth and has extremely low bone density in his hips & spine, similar to OI. Since finding out that he does not have Hypophosphatasia I have taken him to Johns Hopkins and Kennedy Krieger to no avail as far as a diagnosis. To date they are monitoring his bone density. My question is: We have had diagnostics done to begin orthodontal treatment. The orthodontist is planning on beginning treatment with an expander because my son has a high arched narrow pallet. His concern is whether or not he should leave the expander appliance on for longer than the standard 4 months in case the bone formation needs extended time to reform because of history with my two other sons any myself having difficulty fractures healing. View Answer		2008-02-06


	What is the history of cystic fibrosis?(ex. first recongnized, the early fallacies, how it got its name) View Answer		2008-01-28


	I am a carrier of cystic fibrosis. My spouse's cystic fibrosis screening test is negative. Are there additional genetic tests we should request in light of me being a carrier prior to pregnancy? View Answer		2008-01-23


	My aunt, my mother's sister, had 2 children with severe tuberous sclerosis.My mother recalls other mental disorders going back on her mother's side. But of course years ago no one knew anything. So I don't know if these also had tuberous sclerosis. I do know one child had severe retardation just like my cousins. My aunt to my knowledge had no outward signs of the disease. Her husband didn't either, and as far as I know no family history of retardation. I was wondering if I can be a carrier? I have no outward signs. I wonder if my aunt was a carrier? I have no children and am now 64. View Answer		2008-01-20


	I am pediatric Gasterologist. I have patients with volman disease . please let me know how can you help me about gentic diagnosis and treatment. with thanks View Answer		2008-01-14


	My nephew's girlfriend has just been diagnosed with COPD. She has been a vegetarian most of her adult life. What affect would this eating regimine have on her condition going forward? Should her doctor be told in case it is relevant? Also, is alpha-1-antitrypsin deficiency something she should look into given there is a connection with being a vegitarian? View Answer		2008-01-01


	My mother was diagnosed shortly before death at age 48 of emphysema. She of course new nothing about this diagnosis and was a smoker. My question is, I was told that both my parents would need to have this condition for me and my 2 sisters to have Alpha 1. Can you please shed light on this for me. Your input is greating appreciated. View Answer		2007-12-06


	im 30 years of age and i was diagnosed with fmf since i was about two years of age. until now i still have the attacks about once a month and it lants for about 72 hours. please if you have any cure or suggestions. thank you. View Answer		2007-12-05


	I just found out a friend has CF, but he only has it of the digestive system--it does not affect his lungs (or so he says). But he also told me he has to do breathing therapy each night, is on anti-biotics a lot and takes a medication each time he eats. He was diagnosed with diabetes last year. He turns 47 soon. He assures me he will live much, much longer, but I wondered if he is not telling me the whole truth (to "protect" me)...is it possible to have CF of the digestive system ONLY? Thank you, "searching for the truth" View Answer		2007-11-29


	I would like to know if my unborn child will have the risk of having Tuberous Sclerosis? His father has a brother who has Tuberous Sclerosis. My partner does not have the condition. However, he has not been tested to see if he carries the gene. Only his older brother has been diagnosed with Tubeous Sclerosis. Both of his sisters have children and none of the children have been affected. Thank you for your time. View Answer		2007-11-28


	My son has a strong family history of Malignant Hyperthermia. His Paternal grandmother died of it, as well as his father died at age 29, the medical examiner was unable to determine whether or not Malignant Hyperthermia was the cause. My son is 8 years old, and also has ADD. He underwent genetic testing for MH that was unconclusive. The Geneticist suggested that we treat him as if he has the disorder, until he is old enough to have a muscle biopsy. He is on Concerta, Strattera, and zyrtec in the morning, and the pediatrician has now added Clonidine before bed. Does the mixture of these meds pose any concern with the disorder. I have read literature on the disorder, but nowhere have I found a list of meds to be avoided. I know that it generally pertains to anesthetics, however I am not sure if there are other meds that could trigger the disorder. Could you please assist me in this situation. View Answer		2007-11-27


	Is there any relationship between Hypothyroidism and Polycystic Kidney Disease? My client's initial TSH was 5 and approximately 8 months later the TSH level rose to 9. He is currently taking Levethyroxin. He also has numerous cysts on both kidneys and liver, but so far his Creatinine is within the normal range. He is also being treated for Hypertension. His Cholesterol is elevated, but is not being treated. I am a nutrition educator providing dietary assistance to my client. Your response will be greatly appreciated. View Answer		2007-11-20


	I am 15 years old and I Have FMF. I cannot take colchicine because it was causing fluid build up on the brain. is there anything else i can take and i would like to learn a little more about FMF? Can you help me please? My great-grandfather was from Italy. He died before i was born. Could he have anything to do with it? Like his back ground or something? Please let me know!!! Thanks View Answer		2007-11-17


	is cystic fibrosis lethal? View Answer		2007-11-09


	my children have cousins ( 1st & 2nd) on both sides of the family- my brother-in-laws daughter & their 2nd cousin on my side that have CF. Does this make my kids more likely to carry the gene, so that their children will have a higher chance of having this? View Answer		2007-11-09


	My husband and I are trying to get pregnant and just got back our genetic test results. He has the w1282x cystic gene. My test results for CF came back negative but my doctor said I have a 7T and 7T variant. Is this normal? Can this combination have any impact? Thank you. View Answer		2007-11-07


	dear doctor : can i marry a girl who has a 12 year old brother with a polycystic kidney disease without getting my kids infected with this genetic disease . thank u and my god bless u with ur sience . View Answer		2007-10-28


	To whom it may concern,I am doing a mutation report with regard to the Niemann-Pick disease, type 1 mutation. I was wondering if the gene NPC 1 is a hotspot mutation and what functional effect is associated with this disease (i.e. hypomorph, hypermorph) View Answer		2007-10-27


	My daughter (age 48) was diagnosed with severe emphysemia relating to Alpha-1 antitrypsin deficiency. She started Prolastin injections four or five times but had high temperatures every night and felt ill, so stopped. She was never tested for Hepatitis before getting the treatment. She is getting blood tests tomorrow. I was tested for the Alpha-1 phenotype but do not understand the results. I came out M1M1, and L 78 mg/dL? My mother had asthma and her mother also. I come from England and read it is prevalent in Europe. My daughter was a smoker but quit two years ago, and became worse with her breathing. Any information would be appreciated. Thank you. View Answer		2007-10-24


	Where can I find help for my child with a very, very rare syndrome called "Faisalabad Histiocytosis" she is the only child in the U.S. with this genetic disorder. View Answer		2007-10-22


	what is germline mosaicism? is it related to tuberous sclerosis? View Answer		2007-10-18


	I am currently learning about cystic fibrosis and I was wondering is there any advantage to having this disease? View Answer		2007-10-17


	Dear Geneticist, I am a 36 year old female who has had lung problems all her life. When I was 5 I was diagnosed with cystic fibrosis. A later re-test was negative. Occassionally in my adult life doctors have suggested I have cystic fibrosis. I am having some testing done as a pre-cursor to freezing eggs and was just told I am a carrier for cystic fibrosis with the Delta F 508 mutation. Does this mutation mean exclusively carrier or could it cause and extremely extremely mild form of cystic fibrosis or some other lung problems? Thank you for your clarification. I really appreciate it. View Answer		2007-10-16


	I have been diagnosed with mild alfa-1antitrypsin and I understand that exposure to tobacco smoke can worsen this condition in the lungs. I would like to know if exposure to alcohol can worsen the condition in the liver also? View Answer		2007-10-16


	Is there any testing that can be done to find out if I am a carrier of Wilson's Disease? View Answer		2007-10-15


	would HHT cause a young adult to have extremely heavy prolonged menstral periods? This 14 year old also suffers nose bleeds and what appears to be mouth ulcers. She has not been tested for HHT but has a family history of heavy mestral/nose bleeds in her female direct line and great great grandmother had a facial port stain. Should I push for a genetic test for HHT based on this evidience? View Answer		2007-10-15


	What is the name of the most common gene for Cystic fibrosis? Is it DF-508 or 506? I remember Delta Frank - then three digits, I think. Thank you. View Answer		2007-09-29


	By chance it was found through an ultra sound scan that i had one polycystic kidney. The third scan was done last month after 10 years from the first and they told me the kidney is not present any more ! what happened to the polycystic kidney how come it has disapeared? the other kidney on the left is normal. View Answer		2007-09-28


	I have just been notified that I am alpha-1-antitrypsin deficiency. What is the life span? View Answer		2007-09-28


	Can a parent (68) of a child (50) who has PKD not exhibit any signs of the disease? The parent's older sister is in the end stages of the disease and on dialysis so it is on that side of the family. I am thinking of having a screening myself as I have a few signs of the disease, though my father (sibling to the above sisters) has no signs/symptoms of the disease either and he is 74. Can it lie forever "dormant" in some people and be passed along to their children? I don't quite understand how this all works. Thanks for any information! View Answer		2007-09-24


	My daughter is 36, She got Wilson Diesease when she was 18, She is on pencillian, She does not have tremors anymore, My question is will she ever get her speech back? Are there any new medicine that we should know about? View Answer		2007-09-24


	my brother in-law has this condition,CFTR-related congenital bilateral absence of the vas deferens (CBAVD) , we are researching for our children to see if they carry the cf gene. Does the gene come from both parents? meaning my husbands parents or can they carry the gene from just one parent. also how do you determine which parent has the gene? no family members have CF or present or past.... View Answer		2007-09-24


	My best friend has been told that her 7 week old baby has two gene mutations for cystic fibrosis which would mean she has the disease. She recently had a sweat test administered and the baby's results came back normal. I think her level was a 19. What does this mean? View Answer		2007-09-22


	I am a 57 yr. old female of Irish, Italian, English and Scottish decent. My first cousin has 2 children whom have Alpha 1 antitrypsin def. her other children are carries. I also have two first cousin who died with cystic fibrosis. I'm concerned because I have been diagnosed with moderate asthma and non alcoholic cirrhosis of the liver, should I ask my Dr. for a test to see if I have Alpha 1 antitrypsin def. or am a carrier or am I over reacting. View Answer		2007-09-21


	it has recently come to my attention that my granddaughter may have Familial Dysautonomia. how is this condition diagnosed? if it is genetic, is it preventable, treatable? View Answer		2007-09-17


	i am 46 years old with pkd. I have always been able to maintain my weight but in the last 6-10 months I have become very bloated and tummie. The bloating and pronouned swelling make me look pregnant and I feel very unattractive and aware people are looking at me. I have tried dieting to nearly starvation point to no avail. I have considered smart lipo lipo/laser do you think this an option? Other than my bloated tummy I carry no weight. View Answer		2007-09-15


	I was diagnoised with Alpha One in 1996. My lung disease physcian in told me my "geno-type (?) was "ZZ". Over the last 10 years my symtoms have become worse but that was no big suprise.My question to you is if I should be retested at least for the geno-type? I was with Dr. Pean when he was talking to the lab and he was actually having to raise his voice at them to give them the geno-type. My orginal level was 18 View Answer		2007-09-14


	Please I need a help explaining the result of my daughter, a 5-year Jordanian Female.After having two abdominal attacks with a fever, vomiting and diarrhea, the doctor ordered a test for the diagnosis of Familial Mediterranean Fever.The result was as follows: (Heterozygous for M694V mutation by PCR)Then the doctor decided that she is affected with FMF, and prescribed colchicine.Knowing that neither me nor her mother (both parents) are affected with FMF; but we don't know if we are carriers, could she be affected with FMF? Even if she has an autosomal dominant pattern, could she be affected while both of the parents are not? View Answer		2007-09-11


	My 21 yr. old daughter who is pregnant found out that she is a carrier of cystic fibrosis. I had two first cousins that had CF so I new this was in my family. My question is - for my daughter to be a carrier, does that mean my husband and I both must be a carrier? Thank you. View Answer		2007-09-01


	My daughter is newly diagnosed with tuberous sclerosis. Is Von-Hippel (miss-spell) the same? View Answer		2007-08-29


	Dear Dr, Kindly could you clarify to me the possibility of the occurance of the familial mediterranean fever in a female 24 years old mother of 2 kids, with no family history from both parents at all & she is leaving in the mediterranean area. She had a baby recently then she had periodic fever every week at the same time with agreat pain in the breast ( she is using pumping for feeding her baby) lab examinations found high level of amyloid and ESR 38 at the first hour & 71 in the second hour, CRP & ANA also were high. what is the best genetic test which can diagnose this caes accuretly. Thanks & Regards View Answer		2007-08-27


	I have a few questions about Incontinentia Pigmentosa. My husband and I are wanting to conceive this year or next but I want to make sure I know all of the updated info on IP. I have IP however I consider myself to be minorly effected. I am completely blind in my right eye but have good site in my left eye (since birth), I had open sores at birth that cleared up by 2 months, I have mostly baby teeth, and my hair is thick and coarse.Now I know each child has a 50/50 chance and if boys get the gene then it's fatal but my question is in regards to having a girl. How bad can the "case" be? In other words could she still have effects mentally or would it be simular side effects to me? The reason I am asking is because my mom has IP as well and she has vision problems with her left eye though she is not blind, she too has mostly baby teeth, although she was not born with any of the sores. So hers too are very minor. After giving birth to two daughters without IP she then had me and we were both diagnosed with IP at my birth.Next in your opinion which would be worse/better to have for my first pregnancy.... a boy that might miscarry or a girl that has IP. I know it sounds silly to ask but I also know I'm going to worry during my future pregnancies. I guess I'm asking which one I should be more worried about, which I know is a silly question but I was just wondering what your opinion was on this.Last but not least do you recommend preimplantation genetic diagnosis? If so can you please explain the benefits of this with IP patients? View Answer		2007-08-21


	I was diagnosis with polycystic kidney disease and I want to know what kind of treatments for the disease. Please answer back as soon as possible because I'm very nervous. View Answer		2007-08-21


	hi i have a 2 year old little boy he recently had a MRI because he had a place on his back that that may be a ashleaf mocule that leads up to tuberous sclerosis, well his peditrican said that the results of the MRI was that he had a Arachnoid cyst csf on posterior fossa,my question is ,is that a sign of the diease ..... or has anything to do with it.... we take him to see a neroglists at CHKD the pedrition does not know anything about it so please reply thank you View Answer		2007-08-14


	Cystic Fibrosis question...My husband's uncle had a child and grandchild both die of CF. However, there are no cases of CF in aunt's family nor in my husband's father's side or his mother's side. My husband is 1 of 8 children with 17 grandchildren with no CF dx. I have no CF dx on either side of my family. How concerned should I be that the child I am carrying could be diagnosed with CF? We are trying to decide if it is necessary to have my husband and myself tested for the CF gene. View Answer		2007-08-13


	I have a patient (2 mo old baby) with a 2nd cousin with alpha 1 antitrypsin deficiency. Is there any genetic testing that is advised in this situation for that distant a relative? View Answer		2007-08-07


	Our son is dating a 20 yearold girl whose mother was told at age 18 that she could only hope to live till age 23 because she has PKD. The mother is now 43 years of age but has bad back pain and is not well. The father had died of PKD when the mother was only 3 years old. This daughter / girlfriend was tested last year and it appears she does not have the disease. What are the possible implications if our son and this young woman decide to have children? View Answer		2007-08-02


	My husband suffers from PDKD. We have 3 kids ages, 14, 11 & 5. Is there a specific genetic test that can help us discover which one of them might suffer from PKD? View Answer		2007-07-31


	my cousin is 3 months pregnant and just found out she is a carryer of the gene that causes cf what are the chances of the baby being born with cf it is unknown if the father is a carrier too he refuses to take the test please email me back as soon as possible View Answer		2007-07-26


	Hello, I am currently researching Tangier's disease and was interested in knowing if there is a genetic test that can be done to detect the gene. I know it is an autosomal recessive disease but I was wondering if there is a way to find out if the parents carry the allele for the trait. Thanking you in advance. View Answer		2007-07-25


	I have a 2 year old son who is going to be tested for Cystic Fibrosis next month. I was tested when I was an infant and the test was negative. Is there anyway to know, based on my childhood test, that my son's test will also be negative? View Answer		2007-07-09


	We have been informed that our son (16) has tangier disease. My husband adopted him when he was 6 yrs old. I was wondering if I was needing to get into contact with the biological father as he has 2 more children, and what are the chances that they may have this disease? View Answer		2007-07-06


	Besides genetics, are there any other causes of FOB-fibrodysplasia ossificans progressivas? View Answer		2007-06-20


	I have wilson's disease.What i want to know is every single food im allowed TO EAT AND EVERY SINGLE FOOD IM NOT ALLOWED TO EAT and also please tell me how to reduce my copper INTAKE IN DRINKING water. View Answer		2007-06-17


	We have a pregnant patient who has been tested for familial dysautonomia. Does her husband need to be tested and if so what does that entail? Also, what are the risks to the fetus? View Answer		2007-06-12


	My husband has FMF. We are trying to conceive. Does this have any implecations for male fertility? View Answer		2007-06-08


	i had a recent blood test for alpha 1 antitrypsin and my number came back 200 and the max is 220 does this mean my condtion is genetic or not View Answer		2007-06-08


	Hello. Please could you help me. I live in South Africa and there are very limited sources of info on TSC here. I suspect my son who is 10 years old may have TSC and am really struggling to get a diagnosis. His symptoms are as follows: Subependymal nodule on trigone of left lateral ventricle 9mm; Dyslexia, ADHD and possible Bipolar with anxiety disorder; Myoclonic seizures and absence seizures; 1 Cafe au Lait spot on chest (1 cm x 2.5cm) White leaf shaped patches on back and shoulder x 4. Large white patch (size of tennis ball) on chest. Supernumerary nipple. No history of TSC in family. Also, is granuloma annulare a TSC skin lesion becuase my other son had this on his finger and foot. Thanks so much for your help, I would really appreciate it as I am lost at this stage. View Answer		2007-05-19


	Our Childs sweat test number was a 37 which is in the normal range as far as CF. Our Dr's concern is that it might be a mutated form of CF which caused such a high number(Although Normal). Is this possible? My wife was tested when she was pregnant and was negative and I am fertile is it possible we could conceive a child with CF? View Answer		2007-04-23


	My first daughter died of infantile polycystic kidneys accompanied by congenital hepatic fibrosis which is inherited by an autosomal recessive mechanism. This was the postmortem summary received. After two years of this incident, my wife again gave birth to another baby boy and he is now 2 years and 3 months. Is there a chance that even this boy will also get this key disease? Is there a need to go for a scaning? View Answer		2007-04-12


	I have tuberous sclerosis..and my husband and I would like to start having children. I have read that the chances are 50/50 I had a lighter case..does this guarentee a lighter case for my child or could it be more severe, also is it possible to get my eggs tested or would they all automatically have the Tuberous Sclerosis? View Answer		2007-04-11


	I have AAT, I am getting weekly infusions of Aralast which seems to keeping my level at 3.00. I have been told my condition is terminal. I'm tired all the time and do alot of sleeping. How long does a person last with a condition like this. View Answer		2007-04-10


	While I was pregnant with my first child, I was tested to see if I'm a carrier for cystic fibrosis. The results were negative. I was not retested during my second pregnancy. We found out that my husband's 3 year old great nephew has cystic fibrosis. His niece and her husband were both carriers of cystic fibrosis. Does this mean that my husband could be a carrier of cystic fibrosis? Thus, my children could be carriers. I spoke to his mother and they are not aware of cystic fibrosis in the family. I'm worried for my children. I had my first child test during the newborn infant screening. She does not have it but does it mean that she could be a carrier? View Answer		2007-04-10


	I had a child with Diamond-Blackfan Anemia. I know the great resourse of NIH. I need your help for information on PNP, Purine Nucelsid Phosphorylase. There are 2 little boys in Huntington, WV who have this. Their family is struggling with it and have no health insurance. I want to help them if I can. Please send anything you may have, so we can help them. Thank you . View Answer		2007-04-07


	I am the parent of a son with Autism, another son and I with severe allergies, fibromyalgia, Celiac disease and other severe health issues myself, possibly genetic (?). The issues aren't limited to my little part of the tree, but have grown from at least 2 generations above me.I am currently trying to find the cause of a disorder that I have that I am told is strictly genetic - hypokalemic periodic paralysis, which I have had problems with all of my life. At 25 (13 years ago), I had my thyroid ablated with I-131. Shortly after that my thyroid became toxic and the paralisys was diagnosed for the very first time as thyrotoxic hypokalemic periodic paralysis. That was the first time it was diagnosed after 25 years of telling doctors (many of them) about the problems I was having. Doctors since then have all been skeptical (to the point of my embarrassment) as to whether any of this happened, was accurate or why I need to take so much potassium. Once stabilized, I was able to get by with KCl 20 mEq/day for about 10 years. Then about 3 years ago we raised it to 40 mEq/day (with much coaxing from me). About 2 months ago the paralysis attacks started again to the point that I finally went to the hospital - twice. A neurologist there was interested in the case and seemed very comfortable increasing the KCl to 60mEq/day. Over all the attacks have improved slightly, they are not gone. When the neurologist and I talked we agreed that there was a possibility that the issue in question isn't all about Potassium. He suggested that we might want to do some genetic testing.I am already disabled and have been unable to carry on a normal life for the last 4 years, cannot drive (and so rely on others for this), and am in a terrible financial position.I know that before I start to actively pursue this with another physician, I need to have my homework done.I have some of my family on board to help me document our family tree, including as much health/medical information on each person in the tree as possible.I feel that this is my last stand in fighting for myself and for my children - I just don't have much left.What tools - software, forms, other(?) can I put together this information in such that it will be most presentable and understandable when presented to physicians? Are different formats helpful for different types of physicians?I have found many general geneology programs out there, but when you add in the health/medical requirement, the list gets very short. View Answer		2007-04-05


	My husband, was born with polycystic kidney disease, as well as heart defects. (Doctors have told me that his heart and kidney problems may be related/connected.) He was born in March 1952. His kidneys started failing--something like 20 percent function, as I recall--in the late 1990s. In January 2001 we finally had to start getting him patched up; he had an aortic valve replacemen (St. Jude titanium) and a mitral valve repair. In March 2004 he had surgery for an ascending aortic aneurysm. We finally were cleared for the kidney transplant and had it in January 2005. I was the donor. He died in January 2006, after suffering a brain hemorrhage in December 2005. (He had been on warfarin since January 2001--I can't help thinking warfarin had something to do with his death, but, of course, he needed it to prevent blood clots.) His parents say they don't have polycystic kidneys. Our neprhrolgist says Rick might have started the PKD problem. I am told our daughter--our only child, who is now 21--has a 50 percent chance of having PKD. I have been told by our nephrologist and another physician of my husband's not to get her tested for it--too hard to diagnose at her age; might get false negative. What do you think of this situation? Is the prognosis for our daughter correct? View Answer		2007-03-30


	My grandfather and mother have HHT. I want to know how to get tested for it myself. Also, I have had two pseudo tumors and would like to know if it could have something to do with HHT. One of the pseudo tumors lasted for 6 years and I did not fit the profile for the normal patient. View Answer		2007-03-29


	My father has HHT. he had four children non of us have any visible signs. should we be tested? should i have my four year old son tested? View Answer		2007-03-27


	I am a carrier for Cystic Fibrosis. I know that there are many mutations of a gene that can all cause CF. Would my husband and I have to have the same form of the gene, or if we are both carriers despite the mutational differences, would we have the same chance of having a child who actually has CF? View Answer		2007-03-06


	My sister recently found out she is a carrier of CF. After doing some reading on the disease, a light bulb came on regarding our own son. He is 8, has always seemed to be susceptible to colds, has issues with getting overheated very easily and over the last several months has complained of stomach pains especially after eating. He is at a healthy weight but he wants to eat all the time. It's like we just can't fill him up. Is it possible I would be a carrier of CF if my sister is? Is our son showing signs of CF? View Answer		2007-03-05


	I am currently pregnant with twin girls through IVF with ICSI. My husband was diagnosed with CF when we started trying to conceive. He is missing his vas deferens. His mutations are R117H and G551D. I have been tested for the most common 32 CF mutations and have been found negative for these mutations. My questions are: 1) Should I have CF gene sequencing to determine if I have one of the less common mutations to determine the likelhood that one of the girls will have CF? What are our chances? 25% if I have a mutation? 2) My husband has no symptoms other than a episode of pancretitus 7 years ago, he is now 33. If one of our girls does get CF will it be a more mild case? 3) I know that the R117H mutation caused my husband to lack his vas deferens. If the girls inherit this mutation will they have infertility problems? If we had a son and this was the only mutation he inherited, was a carrier for CF, would he also lack his vas deferens? Thanks so much for any info you could give me. View Answer		2007-02-21


	I have PKD. I am the only one in my family that has it, does that mean that both of my parents would have to be carriers? Could my brother be a carrier? All of my grandparents do not recall anyone in either families having this disease. Another question..........if my husband and i have a baby, what are the chances of it being born with PKD? View Answer		2007-02-15


	I'm sort of worried. My right leg is constantly twitching and in immense pain, by eyes are killing me, I've developed a twitch in my neck recently as well, my lower extremities are sometimes numb, I've had abdominal pains, and I've dipped wildly in and out of extreme anxiety/depression and happiness. My doctor took blood and everything, and before he said anything about what he thought was the cause, I suggested Wilson's Disease (which apparently he thought he could keep me in the dark about and was very suprised that I knew anything about it). He confirmed that that was his first guess. Based on my listed symptoms, how likely is it that WD is the right diagnosis and how long do I have before treatment becomes ABSOLUTELY necessary? Help! View Answer		2007-02-12


	If the first born has AATD how are the odds of later births having the problem. I am the Great Grand Father of anewbborn diagnosed eith Alphas Antitrypisin Deficiency. I thank you for your help View Answer		2007-01-31


	My father has recently been diganosed with Systemic Mastocytosis at the age of 82, which I understand makes him 1 of 200 nationally and the oldest living person with this "orphan disease." Other than high blood preasure, and hard of hearing, he has been in good health until all of a sudden this appears. He religiously has yearly if not simi-yearly physicals all with good results. Should this of shown up in stages or does it just happen all at once? I am becomming more and more like my dad with hearing and blood preasure at my age of 49. Is there anything I need to watch for or should I even be concerned? Your responce is appreciated in advance. View Answer		2007-01-27


	My mother's sister had two children with cystic fibrosis. I realize that it is a genetic disease and I understand how it is passed on, but I am curious... since my mother's sister has the gene, is it possible that my mother has it? What about my siblings and myself? View Answer		2007-01-24


	My husbands nephew was diagnosed with cyctic fibrosis in July of 2006. My husband and I have been trying to conceieve for the past two years and have had no luck. He also tried for 5 years with his x-wife. Is it possible if he has the recessive gene that he will not be able to have children? View Answer		2007-01-22


	My daughter was diagnosed with CF at birth. She passed away at the age 14months. Me and my husband have not been tested yet. We are currently thinking of having another child. My question is, what are my chances of having another child with CF. View Answer		2007-01-15


	My husband (deceased 10/26/2003) was a ZZ with alpha 1 antitrypsin deficiency. I tested as an AA Our daughter who is 41 is currently having shortness of breath and is seeing a pulmonary specialist. He said that she could have a mild case of alpha 1. How is that possible if she is only a carrier? What is her prognosis? Should she have her 11 year old daughter tested? View Answer		2007-01-15


	Hi, i am carrying out a project on x-linked SCID...i just wanted to know if there were numerous diseases involved in SCID X or is that a disease of its own? if there are other diseases involved in scidx, which ones are they? View Answer		2007-01-06


	Can two non-carrier parents have a carrier child (c.f. in specific)? View Answer		2007-01-04


	My third and youngest child, (son) was born with Tuberous Sclerosis . As far as we know his two older brothers are not affected. Recently, my oldest, first born son, is the father of a baby girl born last year with Tricuspid Atresia. My question is this: Could the defective gene for Tuberous Sclerosis be connected to the birth defect of Tricuspid Atresia? My husband and I have no history of any genetic defects and neither my two oldest sons. My second son is recently the father of a baby girl and she has no defect. If you need more information, I can provide. Thank you for any information you can give me. My son and his wife have not been to a geneticist yet. View Answer		2006-12-31


	I had a child six months ago that was diagnosed with cystic fibrosis. After he was tested, we discovered that my husband and I are both carriers of the gene. We have been told that we should consider gene therapy or adoption in order to have more children. Is it possible to have gene therapy to correct the cystic fibrosis genes that we both carry so that we can have more children, and if so how do we find out more information about the process involved, who we should contact, costs, etc? View Answer		2006-12-19


	my daughter tested postive to cf when she was pregent as a carrier now her daughter just born tested postive can this mean she is acarrier? the father was not tested and should he be View Answer		2006-12-15


	My grandmother (my mothers mother) died of complication from Alpha 1-Antitrypsin Deficiency (cirrosis of the liver). My Aunt (my mothers sister) has just been diagnosed with the same condition and has cirrosis and liver tumors. My mother is getting ready to be tested. If my mother test positive does it mean i could also have the condition? If my mother tests negative could I still have the condition ? (does it skip generations?) What is the best tests to have? View Answer		2006-12-13


	What is the genetic cause of the dieasae Cystic Fibrosis? View Answer		2006-12-08


	My husband is a carrier of CF mutation 117H and has the variant poly T 7T on the same chromosome. I was also just tested and am not a carrier, but have a copy of 5t on one chromosome. Can you comment on the potential disorders of a child? we are trying to get pregnant. View Answer		2006-12-07


	I am currently doing a project on Fibrodysplasia ossificans progressiva and I was wondering if you could tell me anything about prevention, cures, or treatments of this disease that are currently going on in the genetic community. Thank you for your time. View Answer		2006-12-01


	Hello, I found out about 2 years ago that I am a CF carrier. My youngest son married a woman who knew she had a r"ecessant gene for CF. My son was tested and found to have a mutated gene with allelles leaning toward respiratory problems. My question is, can a carrier experience some symptoms of CF? All my life, I have had difficulty with thick phlegm during my asthmatic bronchitis episodes. Also, I understand that there are "markers" present in the carriers such as polyps in the body. I have had a polyp removed from my colon and on my father's side, there were relatives with nasal polyps. My sister visits an ENT specialist who thinks there is a possible connection because of some of his patients seeming to share some of the symptoms of CF. My son does have a an eighteen month old son who has been definitely diagnosed with CF, but as of this time, no major symptoms have come about except for elevated liver function tests. Thank you for your help with this question. View Answer		2006-11-28


	What is the average life expectancy of a child born with cystic fibrosis? View Answer		2006-11-17


	I have a question about fibrodysplasia ossificans progressiva. Will a person with this disease be able to have a job? What is the life expectancy? Are there prenatal test for this disease? View Answer		2006-11-13


	Hello, I am 1 of 4 sisters who have alpha one anti trypsin. One sister is a ZZ genotype with low levels and has got emphasyma COPD as a result of this, with the rest of us being carriers with MZ geneotypes with varying levels. My questions is, would our parents also be carriers for my sister to get the ZZ genotype one gene from both of them, they are old and say it has missed their generation and that it was from previous generations as they are healthy and in their 80's and they will not go for a blood test. Is this denial or can it be right. Looking forward to your reply. View Answer		2006-10-24


	If a child has been diagnosed with Hemophagocytic Lymphohistiocytosis (HLH) is it likely that a sibling may have the syndrome as well? View Answer		2006-10-14


	If we are both carriers of cystic fibrosis but the gene mutation is different, are the probabilities of the baby having the disease smaller than normal? View Answer		2006-10-05


	Recently my doctor indicated that FMF may account for the unexplained high fevers (>104F). Having read about it, most of the literature states that this condition occurs in peoples of mediteranean descent. However, I am Indian and as far as I can tell, there's no mediteranean ancestry. Doesn't that mean that FMF is not a possible explanation for my sudden fevers that occur out of the blue? View Answer		2006-09-25


	My son has Alpha-One Anti-trypsin deficiency. Five years ago he was seriously ill with Guillain-Barre Syndrome. Is there any connection between the two disorders in terms of being susceptiible to GBS if one has Alpha? He was on full life support for nine (9) weeks. Would having been on a vent influence his lung condition later on? Thank you. View Answer		2006-09-22


	I would like to know if PKD is inherited more so from the mom or dad's side or can it be inherited equally from either side if one parent has this disorder. View Answer		2006-09-20


	There is a hypothesis that some double recessive diseases survive because there is a survival advantage for the single recessive carriers. For example, it is speculated that sickle cell anemia has survived because the single recessive carriers have increased immunity from another disease (malaria, I think). I was wondering if it is known whether there is an analogous situation for the alpha 1 antitrypsin deficiency disease? View Answer		2006-09-19


	I just got my blood work back that showed I was positive for Familial dysautonomia. My husband took the test yesterday to see if he was a carrier - my husband is half Ashkenazi 1/2 Sephardic. What is the chance he would also be positive. I am really upset about this- my doctor doesn't seem to concerned. View Answer		2006-09-07


	I am doing and assisgnment on inherited emphysema and was wondering if you could tell me what gene it is on? because i have not been able to find this anywhere. View Answer		2006-09-01


	My niece is newly diagnosed with A-T (Louis Bar). As my husband and I approach having a second child we carry concerns about needing genetic testing. Is this a valid concern, and if so how do we approach this matter? Background info: My sister shares the same mother and a different father. View Answer		2006-08-28


	To Whom It May Concern: I would like information on the topic: Nodular heterotopia bilateral periventricular. Would this be a Congenital Malformation or listed as a "rare disease" which I read that the above is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the (NIH). Any input would be greatly appreacited. View Answer		2006-08-18


	About Me: Male, Age 32, Birth Place: India, Caste: Hindu Genetic Testing Results: CF Mutation Analysis - Negative for 97 mutations analyzed; Intron 8 Poly(T) Variant Analysis - 7T and 7T (negative for 5T); Chromosome Analysis - 46,XY; Y Chromosome Microdeletion Analysis - none detected in the AZFa, AZFb or AZFc regions. I undervent bilateral vericocelectomy. It was found that the left testicle has 2/3 developed epididymis and no Vas Deferens. Right side was normal. What can cause unilateral absence of Vas Deferenc? View Answer		2006-08-13


	my granddaughter was born with cystic fibrosis was diagnosed in womb after an ultrasound showed an echogenic bowel then after further testing showed my daughter and her husband were both unknown carriers further testing showed the gene came from my husband but my question is would it be possible for my granddaughter to have even been a carrier if neither parent were carriers my son in law is saying he was told that she could have been a carrier of the gene even if they weren't that she could have inherited it from her grandfather the fact is she has the disease but we would like to know if a person can inherit the gene without a parent being a carrier View Answer		2006-08-11


	A member of my family has tested positive to have the gene for familial amylodosis. Does this mean that the person although, now not symptomatic, eventually succumb to the disease, or can one simply be a carrier and never get the disease. View Answer		2006-08-05


	I would like to know if what my sister said is true. She was tested for CF during her pregnancy and told she is not a carrier. Since I am the brother, she said the doctor said I would not be a carrier either. But I have a son that was born with CF. Is this possible? Can you tell me if this actually true? View Answer		2006-07-28


	My 10 month-old grandson is being worked-up with a tentative dx of tuberous sclerosis. His father, my son, works in a company that checks for underground fuel leaks. Is it possible that this occupation could lead to mutations that would cause tuberous sc.? We are not aware of any hx of this in either maternal or paternal relatives? The child has the white marks on his skin, and has seizures. Otherwise, he seems to be alert and social. View Answer		2006-07-25


	My sister and her husband carry the trait for Familial Dysautonomia. They have 3 children with the disease. How do I go about being tested for the trait? My sister told me that there are certain characteristics in carriers such as chronic dry eyes and bowel problems. I have chronic dry eyes and pan ulceratrive colitis. View Answer		2006-07-25


	My great neice is 4 years old and diagnosed with Polycystic Kidney Disease and Cowden Disease. My nephew (her father) had the classic symptoms of CD when he was born, but back in the 1977 they didn't have a name for it. We pretty much dismissed my nephew's health issues (enlarged head, tonsils,adnoids,fatty tumors) because he was a premature twin. My questions are: Is the PKD caused by CD? Should other family members including but not limited to his fraternal twin and older sister? Are there any sites you feel that would be beneficial to the family regarding these two diseases. View Answer		2006-07-24


	My friend was diagnosed with familial Mediterranean fever disease. Her mom said that she is unable to consume alcohol as she will have a serious reaction with it and end up in hospital. I was wondering whether she can still drink with this disease or is it just her mom making up a story ? I understand that she shouldn't drink when she is taking tablets, but if she wasn't on tablets, would the alcohol interfere with the disease causing a serious problem to her health ? View Answer		2006-07-20


	I was wondering if you were able to provide me with a little more information on Cystic Fibrosis gene mutations. My husband and I found out we were both positive for a CF gene mutation. One is DeltaF508 and the other is RH117 negative for the 5T allele. I am aware that the Delta F508 mutation is a known severe disease causing change, and that the RH117 may or may not cause a severe disease causing change. I also know that there is a 25% chance of having a child with CF. I was just wondering if you had any information regarding the inheritance of these two specific genes in order to determine what the specific risks may be to children who inherited these two genes. I thank you for your time and would greatly appreciate any information you could give me. View Answer		2006-07-14


	I have familial mediterranean fever. What is the likelihood that my son will have this condition. I know that it is a recesively inherited condition, and my wife does not have it, but she may be a carrier. Is there anyway to check for this disease, or to check to see if you are a carrier? View Answer		2006-07-10


	My 8 year son was recently diagnosed with an AVM between the left and right hemisphere under the corpus callosum. He was adopted as a baby and I have no information about his biological family. Should I have him tested by a geneticist to rule out Rendu-Osler-Weber Syndrome? View Answer		2006-07-09


	My father passed away about 2 weeks ago after years of battling PKD. He had high blood pressure in his 40s, and then when he was 60 his kidneys failed and he started dialysis treatment which continued for seven years until he died. His father also had the same disease. My father's physician told him that the likelihood of me, his daughter, having the disorder was extremely small since it would only affect the males in my family. Then I recently did some research stating that the liklihood of the children of a person whith PKD having the disease was more like a 50% chance, regardless of sex.Do you know what the statistical likelihood would be? View Answer		2006-06-30


	Hello,Polycystic Kidney Disease runs in my family on my father's side. My grandfather had it and four of his six childred developed the illness. My father apparently did not have the disease and in fact donated one of his kidneys to a brother. My father died in his early fifties (lung cancer). My question relates to the genetic transmission. My brother and I were both told that we could not inheret the illness through a father who never had the gene. However, I am not sure we can know that he did not have the gene and I also read that a person can carry the gene without symptoms. Can you tell me whether my brother and I should be concerned? View Answer		2006-06-28


	I am a carrier of Cystic Fibrosis (tested and confirmed). My brother had the disease (passed away recently). I am experiencing fertility problems because of "unexplained fertility" and recently had a failed IVF treatment. I am 38 years old. Can the fact that I am a carrier of CF cause my infertility problems? Other information: Caucasian, 55kg, 1.72metres. No previous pregnancies. receiving fertility treatment for the past 3 years. View Answer		2006-06-27


	My son is detected with two copies of I556V variant. What is that mean? His sweat test result is 14, which I believe is within the normal range? View Answer		2006-06-19


	My husband has Tuberous Sclerosis. We've done a lot of research and spoken to a lot of families affected by TSC. From all this research it seems to show that the first "pregnancy" (not necessarily the first child) is free from TSC. Is this a true possibility and also, is there any research that shows that a mildly affected person with TSC will have a child who is also mildly affected? View Answer		2006-06-15


	Good Day, My Father had been diagnosed with heireditary hemorragic telangiectasis. I hope I spelled all that correctly. I too have some very mild symtoms. The occasional nose bleed, or tiny red spot on the skin (usually only temporary)have never really bothered me........But over the last 6 months I have had some cracking of the skin on the very tip end of the thumb, index, and middle fingers only of each hand. The end of the digits feel bruisey just before and after they "crack". The cracking is parallel to the finger print ridges and about 1cm in length. After the crack heals, in a few days, The skin around the healing crack begins to dry out and peel revealing fresh skin. The nails are clear, the beds are pink, blood flow seems to be "normal". Then after 2 weeks the process starts again. I have seen a dermitologist with little result. But I was unaware of the existance of HHT at that time. Finally to the question ........I recently got suspicious that this may not be your average dermititis and could be related to HHT. I read an article on the web today that mentioned "clubbing" of the fingers could be a symtom. While I have no deformations at all, could the skin cracking which is limited to the same 3 fingers of each hand be related. If so how. Is it common. Is it treatable. Steriod creams, anti-imflamitorys, ect. Thank you for any information you can provide. I will be making an appointment when able with a local genetics clinic when able. View Answer		2006-06-08


	My daughter has been diagnosed with non classic cf. She has a severe mutation of w1282x on one side and the 5t polymorphism on the other. She is 5 and a half months old and shows no symptoms. she is actually in the 80th % for her weight. What can be expected with such a diagnosis? View Answer		2006-06-04


	I am 64 years old and when my 38 year old son told us that he is a carrier of Cystic Fibrosis and also only has one vas deferens I had a blood test. I just discovered that I am a carrier of Cystic Fibrosis. Will my 38 year old son be able to have children. He has been married for 4 years and they are trying to conceive. His wife is not a carrier. I have a 36 year old daughter with 2 children. I have a 32 year old son with one daughter. My husband will be tested. Should everyone in our immediate family be tested? View Answer		2006-05-22


	My 31 year old son has just been diagonised with PKD. It is my understanding that he has PKD3, I am having some trouble finding information concerning PKD3, I can find 1 and 2 but not 3. View Answer		2006-05-19


	A 31 patient woth a strong family history of Polycystic kideny disease, currently not exhibiting clinical cysts in the kidneys.is contemplating being a kidney donnor for her brother (age 34) diagnosed with end stage renal disease secondary to Polycstic kidney disease. What gentic testing is required to predict possible development of clinical polycystic disease and can she safely be a donnor. View Answer		2006-05-05


	My brother-in-law's mother was just tested for alpha-1 antitrypin deficiency and she tested postive. Does the mother more then likely pass this on to her son or is it like a 50/50 chance between a son and daughter? View Answer		2006-05-03


	Dear Doctor, I really hope that you could advice me on the below matter as I live in Jordan and there are no FMF specialist in my country whom I can consult.I am a 29 years old female, diagnosed with FMF, but I ONLY experience the FMF attacks during menstruation period, therefore, and since the timing of the attacks are certainly predictable, is it safe for me to take colchicine only during the menstruation period? I mean, does the development of amyloidosis in my body take place only during the FMF attack or does it take place everyday and therefore I should take colchicines daily?Your prompt reply would be highly appreciated. Thank you in advance for your help. View Answer		2006-05-02


	Is it possible that my five year old son, whos brother of 15 months old, could have cystic fibrosis? my 15 month old son has it which we have known about since he was born. my other son was tested for the delta 508 gene, which is the gene found in his younger brother, and it was negative. we are in and out of hospital with my older son as he has all sorts of problems so i just wanted to know if there was a chance that he could have another form of the cf gene. View Answer		2006-05-02


	Hi , i'm not sure if my question is supposed to be answered by you because it is not a genetic based question. I'll give it a try. Why does the deficiency of alpha-1-trypsin seem to effect only the lungs and liver why not other organs..? View Answer		2006-04-29


	Can you tell me what the gene that carries the disorder cystic fibrosis on and the genetic makeup of the gene too. View Answer		2006-04-27


	My sister suffered from Familial Dysautonomia. I have read that it most often occurs among Jews. Neither of my parents have a known Jewish ancestry, but they both carry the gene.Is it possible for this disease to occur from two nonJewish people or must they have Jewish relatives that they dont know about? View Answer		2006-04-26


	Are there any physical characteristics for cystic fibrosis? Also, how is medical research advancing in finding ways to cure cystic fibrosis? Thank you! View Answer		2006-04-23


	I am trying to find information on the possible evolutionary advantage for a person heterozygous for cystic fibrosis. I have two unsubstantiated claims that heterozygotes have a resistance to typhoid and/or cholera. I also remember hearing something about a resistance to bubonic plague. Can you give me any references on any of this? View Answer		2006-04-22


	I come from a family with Polycystic renal disease. My Mother, Brother , Grandfather and many Great Aunts and Uncles have the disease. I do not have PRD. My question to you is, can I pass this gene on to my childern? How early in a childs life can PRD be detected? What can be done to prevent the disease from becoming active? View Answer		2006-04-12


	If I am a carrier of alpha1antitrypsin def. can i still develope lung disease or any other problems from this or will i just carry it and pass it on to my children? View Answer		2006-04-08


	Would like information on alpha-1 antitrypsin deficiency. I have a long family history of a parent, grandparent, uncles, etc. with emphysema and lung problems (COPD) with and without smoking or being exposed to second hand smoke. Would also like information on skin condition, Panniculitis, and how it is related to the deficiency. View Answer		2006-04-06


	My wife and I have been diagnosed as carriers of the CF gene. If we decide to get pregnant is there a test that can be done earlier than 11 or 16 weeks into the pregnancy to determine if the baby will have CF? Does it matter that we are using the IUI fertility treatment in order to get pregnant?? Would you recommend going to a genetic counselor before making a decision on anything? What would a counselor be able to tell us that we can't find on the internet?? View Answer		2006-03-30


	Hi, I have a weird question. I was diagnosed with the congenital absense of the vas deferens. My wife an I had assisted reprduction and everything went well. My question is this, because my sperm cannot leave the testes area. Does that make me more "sexual" I feel like I am always wanting sex or I am aroused by almost anything. Thanks View Answer		2006-03-28


	I am curious as to how a child inherits/develops cystic fibrosis. Do one or both parents have to test positive for a gene??? any information you can give me would be appreciated. thanks View Answer		2006-03-28


	i have been diagnosed with the condition alpha1anti trypsin and i have the gene p.sz. I would like some more information on how this condition will affect me, and what does this gene p.sz mean thank you. View Answer		2006-03-28


	My daughter is dating a young man who is 24 and has cystic fibrosis. I understand the disease is genetic. Will my daughter be able to have children with this young man and what are the chances they will inherit this disorder. My family has no history of this disorder, the boy's mother and father and sister have no symptoms of the disease either. I know my daughter wants children and am concerned they may inherit this disease. View Answer		2006-03-01


	My husbands father died of alpha1antitrypsin. Since then my husband has been tested for this every year, but it continues to come up negative. He is now 20 and we are talking about having children. Is is possible to pass on this disease to our child? View Answer		2006-02-24


	What can Cystic Fibrosis lead to? View Answer		2006-02-16


	What is the gene mutation R75Q? What does it mean and how does it relate to a person with CF (Cystic Fibrosis)? THANK YOU View Answer		2006-02-12


	My sister's son, age 35, in seeking answers for his infertility found out that he had missing bilateral vas deferens. Further genetic testing showed that he had a gene for cystic fibrosis and that with 95% positivity his mother is the carrier. I am just curious how this could not have been picked up before this. I also have a son who has never had a child, but never underwent any testing for the condition. I am most curious as to what this means, and what is in store for my two grandsons age 18 and 16. View Answer		2006-02-02


	My mother is suffering from cystic fibrosis and she is 40 years old. Can you please help me to know that what kind of doctor should I refer her to and also under what kind of treatment she should be for her disease? View Answer		2006-02-01


	I am pregnant, and just found out that i am a carrier of the cystic fibrosis gene but i do not show symptoms. My husband has not yet gotten tested. I was wondering, how do you get the carrier gene. I do not know anyone in my family with the gene or the desease. does one of my parents have to be a carrier for me to be a carrier, and since i am a carrier, does that mean i could run into problems or be affected in any way? View Answer		2006-01-31


	I was watching the Discovery Channel about a man with Alpha-1 Antitrypsin deficiency. He had asthma like symptoms. He had a lung transplant. The show claimed he would then live a healthy life. Since Alpha-1 Antitrypsin is made in the liver and he did not have a liver transplant, how is this possible? They did not mention anything about being on any type of medication. View Answer		2006-01-31


	How could I be tested to confirm whether or not I have X linked Hypophosphataemic Rickets? View Answer		2005-09-14


	Is there a gene that triggers fatty tumors? My Mom had them, I have them, and now my children have them. Is there a way of getting rid of the gene that triggers it? View Answer		2005-09-14


	My spouse and I had a miscarriage in May; this was after I had 2 successful pregnancies with my former spouse.My spouse was diagnosed with a benign angiomyolipomas and the leading cause of this is Tuberous sclerosis complex (TSC). If he does indeed have this disease, could this have been the cause of our miscarriage? His ex also had a miscarriage when they where together and that is the only other pregnancy he has fathered. We want to try agin, but now I'm concerned that it will happen again because of this disease. View Answer		2005-09-14

Add to Favorites


Home	About	Site Map	Disclaimer	Terms of Use

Copyright © 2009 by Emory University. All rights reserved.