Autoimmune Disorders | Ask the Geneticist (SM)

Q&A about conditions that occur when the immune system does not work properly which are influenced in whole or part by genetic factors. The immune system is the body’s defense against infections and other invaders. Health problems that result from the immune system working against itself are called autoimmune disorders or autoimmune diseases. Autoimmune disorders are known to run in families and are influenced in whole or part by genetic factors. Examples include lupus, ankylosing spondylitis, and rheumatoid arthritis.

Other information about autoimmune diseases:

-National Women’s Health Information Center website: http://www.womenshealth.gov/faq/autoimmune-diseases.cfm

Subtopics

Addison disease (1) Ankylosing spondylitis (13) Antiphospholipid syndrome (1) Asthma & Allergies (7) Autoimmune Polyendocrine Syndrome (1) Buerger disease (1) Celiac Disease (1) Crohn Disease (7) Diabetes (4) Fibromyalgia (1) Guillain-Barre syndrome (1) Hereditary angioedema (HAE) (1) Lupus (SLE) (2) Miscellaneous/Unclear Diagnosis (11) Multiple Autoimmune Disorders (5) Multiple Sclerosis (MS) (3) Myasthenia gravis (2) Osteoarthritis (1) Polymyositis (1) Psoriatic arthritis (1) Rheumatoid Arthritis (4) Thyroid Problems (12) Ulcerative Colitis (1) No Sub-topic (0) Showing 82 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	I was born with a condition that makes me paractically be allergic to the cold weather or water, and I practically become unable to use any parts of my body that moves as the room or weather becomes colder. Is this a genetic disorde? Because my brother and mother and other sibligs also have it, the problem is that they are in Mexico. And what is it called? View Answer


	I was diagnosed with Rheumatoid arthritis at age 12, my mother was diagnosed at the same age as a child and my maternal grandfather was diagnosed with RA as well. I am 26 years old and my husband and I are planning on starting a family soon. My husband's mother was diagnosed with RA also a few years ago. Due to the fact that RA is present on both sides of the family, what are the possibilities that our child would be afflicted with RA? View Answer


	what are the genes involved in the aetiology of asthma View Answer


	My brother was diagnosed with Crohn's disease when he was 18 years old, he is now 33. He went through surgery and god knows how many different drugs trying to find one that was really effective. Thankfully he is coping and has been living much more comfortably since his procedure to remove his extremely diseased intestine (1 ft of his large intestine). Nonetheless he is still taking numerous medications to treat his symptoms. I am trying to find out if there are alternative treatment options such as gene therapy that may be more effective then his Remicade therapy. I mention gene therapy specifically because on several occasions I have found it mentioned in respect to Crohn's disease and I wanted to hear a professional opinion on the matter, but I would be highly intersted in hearing any other information you may have about the disease, treatment options, and/or new research findings. Thanks View Answer		2009-08-26


	I feel that I have many of the symptomes for ankylosing spondylitis, but my HLA-B27 test was negative. Does this completely rule out the chance that I have this type of arthritis? I have sisters that share many of the same symptoms but not to the extent that I do. I do not know their HLA-B27 status. Also my mother who is disceased had many of the same symptoms as well. She died from myeol-dysplasia that transformed to a myelo-mono acute leukemia. Any link? View Answer		2009-08-14


	I am a pulmonary pt. that was dx with asthma years ago. In the last 4-5 years my symptoms have increased to the point I have SOB 90% of the time even during the use of Albuterol. I have been on Flovent, Advair and Symbicort with no relief. During my severe flares I am placed on Prednisone still with little relief in the end. I have been told that I have had pneumonia twice in the last 3 years. My PFTs have been stable in the high 80?s and 90?s until about 4 years ago. Now (without prednisone) my FEV1 and FVC are both in the 70?s and the ratio mid to upper 80?s which is normal. My pulmonary MD seems to feel that this all asthma and my PCP really have no thoughts. Is A1AT something that I should be tested for since I appear to be worsening and the meds don?t work they way they should. I feel that I am becoming worse instead of better as time goes on. Thanks so much for the return information. View Answer		2009-07-06


	What are the outcomes and treatment options for children screened for Congenital hypothyroidism at ages 2 and 5 years? View Answer		2009-07-06


	Hello. I am 5 months pregnant. My husbands sister who is 17 was born with Lupus and his brothers daugther who is 5 has vitiligo. Alzheimers and diabetes runs in my family. I have been doing some research on autoimmune disorders and have not been able to find much. What are the chances that my children will be born with some type of autoimmune disease? View Answer		2009-06-24


	I have recently been diagnosed with Hereditary Angioedema. I have had this condition for 43 years, my trigger is PTSD. I have a low C-1 esterase inhibitor (23dL) only when infected otherwise it is normal. I have also been told that Bradykinin is assumed to be the most important mediator. It affects my eye lids, the area around my nose and under my chin and neck, my for arms and hands. These areas swell blister and seep. All of these areas are painful along with itch and burn at the same time. My problem is nothing works to relieve the pain and the itch. Anabolic Steroids, Stanazol, Danazole, Predniszone and anti-histmines and topical creams are all ineffective. I've been given fresh frozen plasma and this also seems to be ineffective. I've been told my condition is very rare. Medications and drugs do not work on me. Is any other blood test I should be aware of to help pinpoint my condition? View Answer		2009-06-17


	When I was younger I was diagnosed with Polyarticular Juvenile Rheumatoid Arthritis at the age of 3. It then went into remission when I was 6 years old. When I was 16 my arthritis returned and I started going to Children's Hospital in Seattle, WA for my physicals. My doctor at the time said that it could have been passed down genetically and had skipped generations before I ended up getting it. I have always been interested in how this could be possible and wanted to know if there could even be some kind of genetic link. I do know that I have a second cousin that is much older than me and had what is thought to be the same condition as me when he was younger. My arthritis has gone into remission, once again, when I turned 23 and has been in remission for the past 2 years. It all just seems odd to me why it keeps coming and going. Any ways a geneticists point of view would be interesting. Thank you. View Answer		2009-06-15


	When I was twenty, my identical twin daughters were stillborn at 29 weeks. We were told at a sonogram that they had Turner's syndrome. An autopsy also revealed that they had adrenal problems. Unfortunately, at the time I was depressed over their deaths, and I didn't get very many details. I have two daughters in their twenties. Both have been told by their seperate doctor's that they are anemic, and one has been diagnosed with Hashimoto's. Could my daughters have a genetic disorder related to Turner's syndrome? View Answer		2009-06-12


	I have been VAGUELY been diagnosed with a varient of GBS/CIDP. Reason I say vaguely as there is little supporting documentation to support the diagnosis but Neuro has little to go on. My question is that should a CPT2 test a good idea for me? My symptoms are weakness to the point of collapsing with episodes, every muscle hurts and tender and chest pain which is not attached to any heart condition which has been thoughrly tested. Last for days, weeks or months. Tendancy to be after a really good day of physical exercise with little to no pain til day after. Family history of type problem but not to my extent. Present meds of 200mg Imuran is failing. Thanks. View Answer		2009-05-13


	I have done a lot of reading on celiac disease, autoim-mune thyroid disease, EDS hypermobility, PLMD, and fibromyalgia and have found some curious things. When I read that celiac disease causes autoimmune thyroid disease it was an 'Oh' moment for me.The Ehlers-Danlos syndrome has a sub group of people with fibromyalgia, and periodic limb movement disorder is part of the mix for FM. Then I found your website which says all these disorders are on chromosome 6 (6p11, 6p21, 6q25.3, 6p21.3). Is hypermobility EDS actually celiac disease since they both appear on 6p21.3 and no one has been able to find the genetic marker? I see so many similari-ties between the two. How can they be at the same locus address and not be connected to each other? View Answer		2009-05-07


	I have 2 sisters and 2 half-sisters. Both my sisters have auto-immune disorders. One has systemic lupus erythematosus(diagnosed at age 30), the other has rheumatoid arthritis(diagnosed at age 30). One of my half-sisters is currently being tested for rheumatoid arthritis(she is 46). My other half-sister seems to be fine. I currently am showing no symptoms of anything either, and I am 36. What are my chances of developing one of these diseases? I do have minor auto-immune disorders. I have alopecia areata and excema, plus premature graying. View Answer		2009-04-20


	I have Ankylosing Spondilitis, my daughter has fibromylagia and my father has just been diagnosed with polymylagia rhematica - Is there a connection in our genes that has influenced this? View Answer		2009-03-30


	Are thyroid problems genetic? My father has a failed thyroid (hyper or hypo or graves disease, I don't know). I have several symptoms of hyperthyroidism and plan on getting it checked out. Is there a greater chance of thyroid problems since my father has that? View Answer		2009-03-09


	Hello & Thank you: Iam 53 years old male, while serving in the army 1974 to 1976 i developed ezcama on my face and neck that left scarring very bad scarring, in 1980 i had a bout with iritis in my right eye and stayed in the hospital 1 week, since then i have had many bouts with a sore back & hip pain and several bouts of iritis. last year i was diagnosed with Ankylosing Spondylitis, could all these be related ? it just seems that some how they are related, otherwise im healthy. View Answer		2009-02-08


	Can Crohn's disease be diagnosed before birth? View Answer		2009-01-19


	I am 33 years old and was diagnosed with Grave's Disease at age 25. I was then diagnosed with breast cancer at age 28. I did undergo testing for BRCA1 and BRCA2 and was negative for those mutations. My daughter was diagnosed two years ago at age 8 with Hashimoto's. My mother was diagnosed with Sjogren's several years ago in her 50's and now she is being checked for myositis/dermatomyositis. Do you know of any genetic disorders that link these conditions? I am concerned because of the earlier onset that has occured with each generation. Thank you! View Answer		2008-11-05


	I have a niece and nephew who are both said to have lupus, but I was wondering if there is a possibility that they have familial mediterranean fever? The symptoms and problems that they have seem to be symptoms of both illnesses. Also, I had a brother who would have high unexplained fevers and short term attacks in his limbs. My cousin has an toddler that is starting to have unexplained high temperatures as well. Also, the mother of the two children with lupus has the thalasemmia trait. I had read an article about someone who has a family member with thalasemmia minor and another relative with familial mediterranean fever. I'm just curious thanks. View Answer		2008-11-05


	Thank you for your time. I have three children, 5 year-old fraternal boy/girl twins, and a 2 year-old girl, all of which have had a serum sickness reaction on separate occasions to penicillin on day 9 of a 10 day dose. The reaction for each of them included swollen, painful joints, fever, erythema multiforme, and relentless itchy hives. Our pediatrician, after my first child reacted, explained that there is no genetic link to this type of allergic reaction and that we could use penicillin for the other children. Neither my husband or I are allergic to penicillin. Both my mother and my mother-in-law are allergic to penicillin, but their reaction wasn't a serum sickness kind. Is this serum sickness reaction to penicillin somehow a genetic thing for my children, considering all three have had this serum sickness reaction to penicillin? What about subsequent children, could we assume they would also be allergic as well? View Answer		2008-10-19


	Hi, I'm wondering if all of the disorders in my family are from the same gene, HLA-B27, or if they are related in any way? My mother had Polymyosistis. My brother and his daughter have Reiter's Syndrome. My mom's sister has Limb-Girdle or Non Myotonic Dystrophy or Non Diastic Myotonia. This same sister of my mother, her daughters, have Sjogren's Syndrome and the other has Stein Leventhal Syndrome. My son has mild Cerebal Palsy. Should I get tested for a specific link in my genes for all these diseases? I am very healthy with no symptoms at all. Thank you. View Answer		2008-09-30


	54 yr old female, diagnosed with PDH Deficiency. 13 yrs ago via fresh muscle biopsy w/ fibroblast confirmation. I experience seizures, resperitory arrest, lactic acidosis etc. Now Drs. believe I have Anklyodosing Spondilitis. Is there a relationship between my E1 alpha subunit mutation and this invasive arthritis? Gallbladder removed due to scarring, lower colon, the same. Bladder biopsy scheduled, shoulder arthritic and repaired, upper/ lower spine arthritic, coccyx, pelvic bones, hips, eyes, all affected. It's difficult breathing, ribcage cannot expand properly. Muscle wasting causes tendons & ligaments to shorten, pulling joints apart. Days full of therapy, traction, yoga, pain. Reoccurring abcess over coccyx. DR.s believe it's due to trauma. I'm thin. When bathing tailbone breaks through skin, where pilonidal sinus was removed 30 yrs ago. Tests rule out reoccurance of this. Spine, midback and coccyx, get sore, hot, red. I can't sit or lay on my back. Can AS cause this as well? View Answer		2008-09-23


	I was diagnosed with Chronic Polymyositis via NIH, analyzed muscle biopsy report & seeing a Dr. SH Stone, coming down from NIH to Children's Hospital, during the same hosp., stay of 1967. Dr. SH Stone tested for a still in research Jo-1, found positive - 11 years old. Also had a Malignant Hypothermic reaction n recovery/heart attack n surgery - nearly died. Other speculations: Periodic Paralysis. Recently found Ragged Red Fibers, ammonia elevated, Cirate Cycle & Pyrvate abnormal. In 1967, NIH saw cases of AMP def., in Chron.,Polymyositis, in research - Mine-felt it was burnt out. Never tested for AMP. Hoping for testing for AMP deficiency. Q: Is there one gene that can be tested (not a group) leaning towards Polymyositis in this? It's the cost, might not be able to afford it. Q2: Can AMP deficinecy thru severe spasms, no exercising cause the alt/ast, aldolase and CK 704, cause all to be elevated now, rising,dropping suddenly - all in one month? Any help greatly appreciated. View Answer		2008-09-05


	My concern is for my two sons. I am the fifth member of my family to be diagnosed with Multiple Sclerosis. My father had it, and three of his sisters had it. One of his sisters had primary progressive, and died in her thirties as a result. Another sister had secondary progressive. The rest of us had/have remitting relapsing MS. Are my sons at a greater risk of developing this disease as a result of the frequency of occurrence? Neither of my two siblings have MS, but they and/or their children have other autoimmune disorders. View Answer		2008-08-31


	My wife suspects she has Ankylosing Spondylitis based on symptomology and positive HLAb27 blood work. We are told that there may be two other genetic markers that can lead to a more definitive diagnosis. Do you know what those markers are and how they are determined? Thank you so much! View Answer		2008-06-25


	a male patient aged 57years is having psoriatic arthropathy without any skin changes apart from seborrhoea since 25 years but no family history about the same, what are the chances of the same running in offsprings? View Answer		2008-06-23


	After 21 years of misdiagnosis, they have CONCEDED to Addison's disease. My children are showing signs as well. How can I get genetic testing for my children so they won't go thru what I did? I can afford it, I don't think I can get it without a doctor? Please advise. View Answer		2008-06-09


	Is there a relationship between congenital hypothyroidism and stress fractures in young girls? My daughter is 14 years old and has been on synthroid from birth. She has been running cross-country and has a stress fracture in both legs and also her hip. I look forward to your response. View Answer		2008-05-29


	I was wondering if my hypothyroidism could have been genetic even though I didn't show symptoms until I was four or five years old. If not genetic, what could be the cause? View Answer		2008-05-13


	My partner has two sisters - one has Stills Disease (has had since she was 4 years old and is now 37) and the other has just been diagnosed with auto-immune hepatitis at age 39. We have a baby daughter, aged 16 months. What is the risk that she will also develop an auto-immune disorder and is there anything we can do to reduce any risk? View Answer		2008-05-12


	My son is 10years old- he was diagnosed with Type 1 diabetes at age 5....My husbad ( his father ) was diagnosed with Type 1 at age 25...his father was diagnosed with Type 1 before age 12. I would like to know what can be done to prevent my grandchildren from getting it? My husband has a brother and he does not have it nor does his 4 year old daughter, I do not understand why when both my husband & his brother have the same parents.I am dealing with 3rd generation insulin dependent diabetes and would like to prevent 4th generation, any suggestions? All 3 of them have great difficulty gaining weight also. View Answer		2008-05-09


	My father has Ankylosing Spondolytis and mu dad's sister has Lupus. I am a 35 year old female and have had lots of fatigue. View Answer		2008-05-06


	I have the understanding that Ankylosing Spondylitis skips a generation and usually occurs in males. Also, I thought that it is not active until it is triggered by something, such as a high fever. My question is two-fold. 1. Are my understandings correct? 2. My husband and I are considering having a baby. My dad has Ankylosing Spondylitis. We are worried that if we have a son he will have AS, since I thought it skips a generation and usually occurs in males. How worried should we really be and how likely is it that if we do indeed have a son he will be afflicted with this disease? Thank you for your consideration, View Answer		2008-05-05


	I have a daughter that was diagnosed with Multiple Sclerosis at the age of 19 and a son that was diagnosed with Schizophrenia at age 21. Neither of these diseases are in either my husbands' or my family. Are Multiple Sclerosis and Schizophrenia related in any way and where did they come from if no one in either my family nor my husband's family ever had either disease? View Answer		2008-04-30


	I am 31 yrs old I have been diagnosed with several auto immune related disorders. I am currently taking 23 prescriptions and several otc to get by. With all these and some great Dr.s I am still in pain every day. All my specialists don't communicate with each other. They look at it like each illness is its own individual problem. I would like a fresh perspective and find someone to evaluate all the diseases and drugs and possibly come up with a better solution. It seems every new symptom gets a new drug and it is really adding up. Who do I go see to be the ring leader of this mess. I have no idea where to start. Several of the main dx are Ankylosing spondylitis, Factor 5 Leiden mutation, Several GI problems, endometriosis, Allergies and asthma. View Answer		2008-04-27


	I have spinal conditions that my neurologist has diagnosed as degenerative disc disease, spondylitis and radiculapathy. I have had two discectomy surgeries in the cervical part of my neck. During each surgery, I was told that I had bone spur growth that had to be removed. MRI tests have shown 11 discs have been affected (including the two that were operated on). I continue to have cronic neck and back pain and currently take narcotic pain medication, muscle relaxer, and another med for neuropathic pain (burning in the muscles). I was told by a nurse (doesn't work for my doctor) that there is a genetic connection between celtic descent and spondylitis. I think the nurse called it ankylosing spondylitis when she was talking about the genetic link. My doctor has not tested me for ankylosing spondylitis. My family (on my mother's side) is from Scotland and Ireland. Is there any genetic link to celtic lineage and the spondylitis? View Answer		2008-03-27


	My daughter contracted JRA at age 4 seven days after receiving the MMR vacine. I worry about a genetic link regarding my younger daughter taking. My daughter suffered for 7 and 1/2 weeks, constant pain. I worry that it could happen to my other daughter and maybe be permanent. I also worry about effects on my older daughter to any other vacines. To add to the mystery I just put another piece of the puzzle together. I took the Depo provera shot years ago and have had near the same symptoms that my daughter suffered. Mine has been ongoing for the last alsmost 15 years. The pain is in my hands and feet, just like my daughter. Could there be a link? I would appreciate any help that I can get. I have tried pretty much everything to get some answers. My younger daughter will be 4 at the end of this month and is supposed to take the MMR. I have requested the vacines seperated so that she can avoid the Rubella, which has been blamed for my older daughters problems. View Answer		2008-03-12


	I was dx with dermatomyositis in 2005. My disease has been active since I was dx and have been treated with prednisone. methotrexate and cellcept. Recently after seeing my doctor because of increased pain in my feet I was dx with R.A.. My Question is what influence my dermatomyosits may have played in my dx of R.A.. View Answer		2008-03-08


	Hi, I am a Grad Student in genetics about to take my qualifying exams and so far I have not been able to find a clear answer on what is the way of inheritance and genetics of autoimmune diseases. Can you please tell me some information about it, I've read books and papers and all I've found is that it is a multifactorial disease, with strong influence by the environment and that it is not a mendelian inheritance, but little is known. Can you please help me? View Answer		2008-03-05


	A blood test showed that I am HLA-B27 positive. Is this passed genetically? If so, does it skip a generation? Is it passed only through the paternal or the maternal line, or can it be passed by either parent? Is it gender-specific as to who it is passed on to, or do males and females test positive for it equally? I understand it can be associated with inflammatory illnesses. Is this correct? Finally, do you have any statistics on what percentage of people are HLA-B27 positive? Thank you very much. View Answer		2008-01-21


	Hello,My mothers, sister's son died of hemophillia at a young age. I have been diagnosed with many different conditions over the years from lupus, liver disease, rumotoid arthritus, diabetic neuropathy being the last to explain chronic severe whole body pain over the last 10 years. I currently take meds for pain, high blood pressure, urinary retention, diabetis, colesteral. This also includes all over acute severe pain at times and numbness and through the years diarrea, and many other metabolic type symptoms including fatigue. I saw a show on acute intermitent porpheria and wondered if there are other diseases related to hemophillia I might look at. Thank you in advance for what might be a life saving direction to look for help. If it is helpful my father died of what was listed as Lupus complications and starvation and high levels of pain managment drugs(which resulted in kidney shutdown). I also suffer from severe urinary retention. View Answer		2008-01-19


	My wife and I are wondering if she became pregnant would our baby have multiple sclerosis since I have MS View Answer		2007-11-07


	i am 29 years old. dad has crohns, i have had 6 colon polyps remved in the past 4 years. 2 precancerous adenomas. I have been diagnosed with insullin resistance, and PCOS, as well as Intersticial cystitis. Are there any genetic test you would recommend to see why i have all these conditions at sucha young age. View Answer		2007-10-11


	This post is very important. It is my life. My girlfriend is having hashimoto's thyroiditis. She is taking replacement doses daily for hypothyroidism. Her maternal grandmother and that grandmother's sister are having graves disease. Her mother's sister is having hashimoto's thyroiditis. My girlfriend's parents were normal and their marriage was second degree consanguinous marriage. I'm normal and in my family my mother and maternal grandmother are having rheumatoid arthritis. I'm also a second degree consanguinous marriage child. But my girlfriend is not my relative. I know that environmental factors also play a role. Now i want to know the approximate risk of my child to have hashimoto's thyroiditis when i marry my girlfriend. I had given complete family history. I am a doctor, and i can clearly understand your explanations. And for my previous post you suggested genetic counseling. What they do in genetic counseling and how it helps us? Please reply in detail. View Answer		2007-10-04


	I am a physician in India. My mother and my maternal grandmother are having rheumatoid arthritis(RF negative). My girl friend is having hashimoto's thyroiditis. Her grandmother had graves disease and had undergone surgery. Her mother's sister is also having hashimoto's thyroiditis. My girl friend is now taking replacement thyroid hormone regularly. I want to know what are the chances of having autoimmune problems in my child when i marry my girlfriend? please guide me. View Answer		2007-09-18


	can toxic cehemicals cause this condition ankylosing spond. or servere injury to spine from trauma or diabetes View Answer		2007-09-08


	I have one older brother(41) and one older sister(33), both of whom have been diagnosed with Ankylosing Spondylitis. Both had severe problems for MANY years before their diagnosis, I have had little to no problems. I have never been tested, can you tell me my odds of having AS? View Answer		2007-09-03


	Hello I am a caucasian female, 20 years old. I have been having some GI problems over the last number of months that are concerning, including some blood in my stool (not occult that I am aware), anal fissure/s, constipation, bloating. My question is this: My father has Crohn's disease for which he has had 14 surgeries for in his lifetime. He was diagnosed at 28 years old. His brother (my uncle) also had this disease and it killed him when he was 24 years old. He started having symptoms at 18, and was diagnosed at 20. Can you tell me what percent chance I would have of having this disease as well? My fathers two other children 34yo and 21yo do not have symptoms as of yet. My mothers family has no known history of Crohn's. We are worried and I will be going in to see a GI doctor in a couple of weeks. View Answer		2007-08-14


	Hello, my 5 yr old daughter has uncontrolled chronic severe life threatening asthma. Her specialists have performed bronchoscopies , done allergy testing and checked her immune system and all are ok. They have also done sweat testes to rule out CF. Any time she comes in contact with a virus or flu, she displays no symptoms of a cold but instantly has a massive asthma attack, often requiring weeks in hospital with lobe collapses and has been in ICU. She has had over 30 admission to hospital so far. We have run out of medications to try. She is on the 98th percentile for height and 95th for weight. Her feet are flat footed and her toes bow in towards each other more than normal. Her elbows are double jointed. My personal theory is that we are dealing with a form of anaphalaxis, that her immune system over reacts to these viruses, but there is not testing for this that I know of. In her last skin prick for allergies she had a huge reaction to hystamine. Between episodes she still has mucus that sits in her lungs at night that needs moving each day. but otherwise she is ok. Could this be a genetic issue? Her asthma really is similar to CF but she has no weight or gut issues. Could you suggest what to do? View Answer		2007-08-09


	My father, aunt and grandmother all have the ankylosing spondylitis disease. I have been tested for HLA-B27, and it has been shown that I carry it. For the past four years, (I'm 15 now) I have been having trouble with pinched nerves, pains in my spine, knees, ankles, Achilles tendon and ribs. Do all these pains mean that I could have the ankylosing spondylitis disease? View Answer		2007-07-28


	Hello there, I have a few questions about congenital hypothyroidism. I myself have had this condition since birth, I wasn't born with a thyroid gland. I'm 20 and a half years old and have been on Synthroid since a few days after birth. My dosages have varied over the years, though now it is at 0.2MG. I would like to know if congenital hypothyroidism, even when treated, can cause any skin problems/disorders? If I were to have children some day, would they inherit my congenital hypothyroidism? Or could my condition affect their growth and health with in my womb in any way? Not that I am planning on doing so, but I am curious to know what would happen to me if I stopped taking my Synthroid all together? I imagine all the symptoms of hypothyroidism would arise, but would death eventually occur? View Answer		2007-07-19


	This guy that I have been dating recently has Crohn's Disease. I am not sure if he knows that I know this or not, but I found out from a close friend of ours. She said he doesnt want children of his own because he doesnt want to have a child to have to go through what he has if he passed it on. I am curious to know just what the chance would be of something like that happening if he were to try to have children. He loves kids and wants ones of his own, but told me that he cant have any. he hasnt told me why yet, but I feel that the reason that our friend gave me is why and he just hasnt told me of his fears yet. This is a new relationship but I am just trying to be prepared because I really want children of my own that i carry. Can you offer any advice in this matter because I do like him a lot so far and never dealt with anyone in a relationship with any kind of lifelong illness. Thank you for your time! View Answer		2007-07-02


	I have ankylosing spondylitis. I think I remember reading or being told that Native-Americans have a genetic predisposition to a manifesttion of AS. I am 1/8th Indian and wondered if this is true. View Answer		2007-06-30


	I would like to know whether a child who has a PARENT with asthma, has the same probability of having a predisposition to asthma compared to having a grandparent with asthma. Basically does having a parent vs grandparent with asthma make a difference in the possibility you inherit the asthma. View Answer		2007-06-17


	I recently learned that I have a family history of antiphospholipid syndrome (paternal aunt). I am 19 weeks pregnant, with my first. While I have never had a an episode of vascular thrombosis, I have other very nonspecific findings, i.e., raynaud phenomenon, dizzyness with exercise, minor chest pain and shortness of breath when stressed. I have also recently noticed new small telangectasias, and when I visited my brother recently he has numerous ones as well. He had spoken with a hematologist regarding them who was not concerned, however was unaware of our family history of antiphospholipid syndrome.I will be meeting with a MFM next week - for another reason (i.e., younger brother born with isolated heart defect -transposition of the great arteries, hypoplastic left ventricle, hypertrophic right ventricle and septal defect). And am curious if I should request a PT and INR? No family gene mutation has been id (or investigated). I realize APS is dx following a episode of vascular thrombosis or pregnancy complication in addition to detection of anticardiolipin immunoglobuling IgG or IgM andipodies, or lupus antiocoagulant antibodies....but am curious if family history is ever a consideration (as relatives may be at a 33% risk)...and if there are any published medical guidelines for preventative therapies for patients with family history of APS and nonspecific symptoms? If you have journal article or text to refer me too that would be great....I will share them with my OB. Many thanks! View Answer		2007-05-14


	Are autoimmune diseases genetic? I have a cousin that has lupus, several family members with diabetes, and an uncle who had Sjogren's, mixed connective tissue disease, and several other autoimmune diseases. Any information that you can offer would be greatly appreciated. View Answer		2007-04-23


	Generally speaking, what do you think might be the health and cognitive effects of untreated congenital hypothyroidism in a person by the age of eight? Would they necessarily become profoundly cognitively impaired? If medication were introduced for the first time after the age of eight, could any negative conditions then be improved? For example, if such an individual had become cognitively impaired, could the introduction of thyroid-replacement (or is it hormone-replacement?) therapy then help the person regain some of their cognitive function? View Answer		2007-04-05


	iknow of a child who has neen confirmed hypothyroid,the father is also hypothyroid and so is the grandfather.the parents are not consanguinous.what is the chance of this condition being hypothyroid View Answer		2007-03-13


	Hello: I am making an inquiry into Autoimmune Polyendocrine Syndrome or Polyglandular Autoimmune Syndrome and if possible could you please tell me more about this syndrome (I am assuming they are the same). Based now on our family medical history I am questioning if it may be possible that some members may have or had some form of this syndrome and that it came from my mother?s side of the family which is of Finnish decent as it is her parents, some of her siblings and their offspring and my brother (my only sibling) as he was the one who got the biggest brunt of it all and he passed away recently at age 42 (and I have now only made this possible genetic connection). He has two young sons and I have concerns for them one of which is currently being assessed by an endocrinologist for delayed puberty due to extreme low levels of testosterone. My brother?s other health issues which I found after researching this syndrome and which it appears can be related to this syndrome were SLE (diagnosed at 16), IgA deficiency, idiopathic thrombocytopenia and splenomegaly and in addition I believe at the time of his passing he also somewhere along the way may have developed AIH (which I never knew even existed before I started researching) but that it simply went undetected due to the use of the immunosuppressant?s taken for the Lupus and a donated kidney from me and he had been doing very well with his transplant for 4 years until suddenly he developed hepatic encephalopathy first and then liver and kidney failure last (even though they had him on dialysis) at the time of his passing. They indicated that he had cirrohsis badly but it was not from self-abuse either so I can only assume it was from another disease process. My father?s side of the family has had no such issues of this nature whatsoever so that is why I think the possible inheritance is from my mother?s side of the family (she herself had none of these disorders) but her mother and siblings (and their offspring) have had vitiligo, keratoconjunctivitis sicca and thyroid issues particularly Graves disease. So is it even possible for you to tell me based on what I have provided that there may be reason for concern in regards to this syndrome possibly being inherited in our family, and if so, then how my brother would have inherited from my mother who I assume would have been the carrier and also what type of inheritance it would be exactly and if my brother indeed may have had this syndrome can it be possible for it as well to affect his two sons. At present, I also have some sort of hypo function endocrine disorders but am awaiting my appointment to see an endocrinologist. Also if you suspect there may be a slight chance of this syndrome in my family being inherited can you tell me specifically what genetic tests one would need done to help to ascertain this? Thank you in advance for your reply it is greatly appreciated. View Answer		2007-02-04


	My son, 28 years old, excellent health.......then 3 years ago, developed pancreatitis. Was treated and recovered. Then last year developed iritis and uveitis in left eye. Treated with steroids. Recovered. Was tested for HLA-B27 gene. Doesn't have. 6 months later, bloody, mucousy stools. Had colonoscopy......revealed colitis, proctitis. Given suppository treatment for 60 days.....Recovered. 1 month ago, uveitis, iritis in right eye. Again started on steroid treatment. Taking much longer to recover this time. Had to have huge outside hemorroid lanced in emergency room yesterday. Diet has always been fine. What is causing all of these problems to what WAS a very healthy person? Nothing in family history of any of this. If you could possibly know or point us in the right direction it woul TRULY be appreciated. Thank you so much View Answer		2007-02-02


	I Have had chronic bad breath for over 25 years. I have never been able to find out why. I was diagnosed in 2005 with celiac disease. I am following the gluten-free diet. Do you think this condition has anything to do with my bad breath/ View Answer		2007-01-21


	I have recently found out that i am a carrier of the HLA-B27 gene, i am waiting to see a specialist to discuss what treatment i may require. My concern is that my husband and I had wanted to start a family but now we are not sure if this is a good idea as we don't know if our child would automatically inherit the HLA-B27 gene and as a result develope anklosing spondalitis. please could you give us some advise? View Answer		2006-10-30


	I have a 7 month old son. Both his dad and his uncle have diabetes. Also my uncle died from complications of diabetes.What are his chances of getting diabetes? I am very concerned about this....thank you View Answer		2006-10-24


	Having ankylosing spondylitis for 59 years, I am now addressing it in terms of a visual artist (I am chair of the visual art department at Loyola University in New Orleans).What I am asking has to do with the data and images surrounding the verbage that I am familiar with. Can you direct me to the images or list of the marker used for diagnosis, the ACTG chains, digital analysis, old images, especially engravings of what is now know to be AS, genentic displays of the defect in the chain of DNA, etc. This all may seem odd or insincere, but it is actually very serious for me to address this complex health issue in a new way while I am on research sabbatical to explore coding systems and how they intertwine in communications. I have participated in at least one large study conducted by the University of Texas and Dr. Racheal. Though they promised to provide the data used in their analysis of my condition, it never was provided. View Answer		2006-10-18


	This information is very important to me. My sister and I are both in our fifties with hypothyroidism. My condidtion is very mild. I have just learned that our oldest brother's 28 year old daughter was diagnosed with thyroid cancer;I was not told which of the 4 types.Our niece has had no previous exposure to radiation, which can be a causal factor. There is no known family history of thyroid cancer. Is there a link between the gene which carries hypothyroidism and that which carries cancer? View Answer		2006-10-12


	Is alopecia associated with Crohn's Disease? View Answer		2006-08-31


	I have myasthenia gravis since 1991, did the thymectomy in 1992 and 28 y.old.How could I be tested to confirm whether or not I have the "chance" to transmit myasthenia gravis to my children? What test can my sister do to confirm myasthenia gravis inheritance or predisposition? View Answer		2006-08-07


	What is the percentage of my son inheriting osteoarthritis? Could he be tested ? He is 11 years old. This past weekend we were traveling in the car(13.5 hrs), and had 3 rest stops, and towards the end of the trip he complained of his left hip area was painful and rubbing it helped some; I just thought a muscle spasm, but I worry it might be something else, because of the familly history. The paternal side of the family had knee/hip replacements; his dad bilateral hip replacements before the age of 50. Aunt, bilateral knee replacements, Great Uncle-hip/knee replacements. Thank you for taking the time to answer my question. View Answer		2006-07-24


	My Aunt Just Had both legs removed with the diagnosis of Buergers disease. Now my mother( her twin sister) has the same symptoms. Everyone seems to be uneducated on this disease.My mother use to smoke and now she has been smoke free for 3 yrs.Since this is occurring to them at the same time and they are twins, Is there anyway my mothers outcome could be different(not losing limbs)She has not been diagnosed with buergers yet but all the signs are the same.Could this be a hereditery type of disease and are there any specialists in this field who have had any success with this type of disease? View Answer		2006-07-12


	Hi,I am a pre-medical student at the University of Michigan. I was curious as to where I could find information about the genetics involved in causing and passing on Crohn's disease (also known as Inflamatory Bowel Disorder) to offspring. It seems to be a disease that is characterized in a very vague language and encompasses alot of symptoms. Mainly I guess I am curious to know the basic genetics behind Crohns and if it is known to be passed onto offspring in a traditional autosomal recessive manner or another means. View Answer		2006-07-08


	My father has a quite severe form of ankalosing spondilitus. He developed the condition around the age of 40. I am now 23 and whilst very fit(amateur boxer) and flexible I am suffering constant neck pain(present for over a year). I have visited sports physiotherapists who have been unable to cure the problem. I currently experience no hip or back pain but have been made aware that it is not unheard of for the symptoms to begin in the neck. I visited my GP with the problem over a year ago and he ruled out arthritus due to my flexibility however I am not totally convinced and slightly concerned!!!!!!!! What do you recommend and what are the chances of inheriting the same form of the condition as my father? View Answer		2006-06-20


	I have three auto-immune diseases: Hashimoto's, pernicious anemia, and Interstitial Cystitis. From what I understand, auto-immunity is where the body attacks itself. Currently, I have a "mystery" eye disease where there is an excavation in the back of both of my eyes, causing blindness. The only diagnosis I've been offered by three retinal specialists is "outer layer macular neuro-retinitis." One has suggested that it "might" have been a viral infection. It sounds an awful lot like an auto-immune disorder to me -- my body attacking the inside of my eye. What if I have a larger disease of which these four disorders are merely manifestations? Do I see an immunologist or a geneticist? Any suggestions for the top physician(s)? My vision loss presses me for time; location isn't an issue. View Answer		2006-05-05


	Hello everyone, I had a few questions on Diabetes and the Hereditary factor. I am 21yrs old and I am dating someone who is 22. We have Diabietes type 1 on both sides of our family tree. My Aunt and Uncle have it and His father has it. 1) My question to you is what is the risk of us getting married and passing Diabetes to our children. Could you explain how this works? 2) I know how the virus works but what about the added risk of having it on both sides? Or is there an added risk? 3) Is it true that it Skips a Generation? 4) I have heard from the American Diabietes Asso. That "The majority of people who develop type 1 diabetes have no history of diabetes in their family.Researchers in diabetes are working to discover what environmental factors, when combined with a genetic predisposition, might begin the chain of events that leads to diabetes. No one has found conclusive results yet." Or that ?Ninety percent of children who develop type 1 diabetes actually have no relative with the disease. ? The 4th Edition of the ADA Complete Guide to Diabetes (2005) cites that if a baby is born to a mother who is age 25 or older and has T1 diabetes, the baby has a 1% risk of developing diabetes. If the mother is younger than 25, the risk increases to about 4%. If the father has T1 diabetes, the risk for the child is 6%. Each of these risks is doubled if the parent with T1 developed it before the age of 11. A child born to parents who do not have diabetes has a 0.3% risk of developing the disease. usnews.com says that If one child in a family has type 1 Diabietes , siblings have about a 1 in 10 risk of developing it by age 50. The risk for a child of a parent with type 1 diabetes is lower if it is the mother who has Diabietes than if it is the father. If the mother is 25 or younger when the child is born, the child's risk is 1 in 25, compared with about 1in 17 when the father has Diabietes. When the mother is over age 25, the risk drops to 1 in 100 -- virtually the same as for the average American. The risks are somewhat higher when a parent developed Diabietes before age 1 While WebMD says if 2 diabetic parents have kids they have a 20% chance of geting it. {I got this info from my sister so I don't know if it is the case} Needless to say I am kinda confused. I am getting alot of heat from my family from this, so any infromation would be greatly helpfull! View Answer		2006-04-21


	I have a simple question. My 2 year old is has type 1 diabetes. Neither me or my husband or anybody in our family have diabetes. I'm pregnant, what are the chance of this child also having diabetes? View Answer		2006-04-12


	My mother passed away last fall withcomplications of adrenal insufficiency or addisons disease is this something I should be concerned about and possibly being checked by my family doctor for signs or symptons. I am 56 yrs old and my mother was 86 when she passed away. I was not sure if there was a genetic test I could take or even if I should be concerned. We also have pernicious anemia and thalasymia (blood disorder) that are common in our family. View Answer		2006-03-28


	My mother died 10 years ago of unknown causes. She had many symptoms that are identical to my own. The doctors have so far with me thought I had autoimmune hepatitis,lupus, and have definitely diagnosed me with diabetes. My children have simular symptoms as I have had. In general I would call it classic fibromyalgia and most of my doctors concur. I am anemic, have an increased iron binding capacity, elevated monocytes, positive ANA,elevated liver enyzymes,hypertension,chest pain, excessive sweating, heat intolerance, pruitus, skin lesions cresent shaped with blisters on left leg only, and one under my left eye, incredible lack of energy, memory problems, and my brother was recently diagnosed with MS and his doctor said he should tell his eight siblings that this was hereditary.Is there an easier way to come to diagnosis, or is each person in my family going to have to go through this slow torturous process of not being believed until all the symptoms have culminated, and are obvious for all to see? Is there a caveat of tests that can be done prophlactively to prepare us for the inevitable? View Answer		2005-10-16


	Is a person whose grandfathers are cousins have a higher risk of having Myasthenia Gravis? Could it be the cause of the disease? View Answer		2005-09-25


	Everyone in my family has an autoimmune disease. My husband and I have type I diabetes. I have Hashimoto disease. My sister has multiple sclerosis. My husband and I would like to start a family of our own, but I am concerned about the risk factors to a child with our medical history. View Answer		2005-09-14


	I was diagnosed years ago with SLE. I have always been told that we are uncertain of its origin/cause and that there was only a slight possibilty it could be genetic, although nobody in my fanmily ever had it. Someone recently told me it IS genetic, and there is genetic testing and "carriers" and other things I am not aware of. Is this set in stone or still being researched? Is it confirmed or just a current thought? I had to drop my rheumotologist a few years ago when I lost my health insurance so I can't ask him...thanks. View Answer		2005-09-14


	My 20-year old daughter is allergic to cats and also has mild persistent asthma. She is dating a young man who is also allergic to cats and has a serious allergy to nuts. He needs an emegency injection if he accidentally ingests nuts. He does not have asthma, however. I know that if two people with allergies marry and have children, the children's chances of allergy can go as high as 70%. What is the likelihood of the children of two allergic parents inheriting even more serious allergies than the parents? For example, I have read that variations in chromosome 5 influence the severity of asthma and the response to medications of asthma. Would parents with allergies be likely to have a higher chance to have a seriously asthmatic child, rather than one with a mild form of the disease? View Answer		2005-09-14


	My grandfather and mother both have hypothyroid disorders. What are my chances? View Answer		2005-09-14

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