Adult-Onset Conditions | Ask the Geneticist (SM)

Q&A about conditions that begin in adulthood that are influenced in whole or part by genetic factors. Examples include diabetes, osteoporosis, and kidney disease.

Other information about adult-onset conditions:

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CADASIL (14) Diabetes (3) Fibromuscular Dysplasia (1) Hyperparathyroidism (1) Kidney Problems (2) Miscellaneous/Unclear Diagnosis (10) Osteoporosis (1) No Sub-topic (0) Showing 32 questions

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	Question		Date



	I have severe diaphragm weakness. My doctors have tried many tests to figure out what is wrong. I can only breath using about 33% of my lungs...but I'm holding my own oxygen wise...My doctors don't know what else to do - and I came across Pompe Disease during my research. My Primary Care Physician wants me to get the tests based on the print out I gave him - but we are having problems figuring out just who orders the test and who carries out the test... My Neurologist said he doesn't do that...and my Pulmonologist said he doesn't either. Can you please point me and my Primary Care Physician in the right direction?Are there other genetic diseases that could cause severe muscle weakness which started in the diaphragm and moved to my legs? I am 45 and this just stared in January of 2007. View Answer


	I HAVE BEEN DIAGNOSED WITH PRIMARY HYPERPARATHYROIDISM AND WILL HAVE SURGERY THE END OF THIS MONTH. IS THERE ANY POSSIBILITY THAT IPEX SYNDROME PLAYS A ROLE IN THE ENDOCRINE GLANDS OR HAS ANY ROLE IN HYPERPARATHYROIDISM? View Answer		2009-07-14


	Maybe I am over reacting. I don't know, but I need answers. I am a 37 year old women who has been aging rapidly after 31. Maybe it is nothing, but if I could I would break every mirror in my house. Since 31, my facial skin has been wrinkling, I am losing facial bone density, I have developed renauld's phenonomen(spelling), fibromyalgia, hiatal hernia, receeding gums, & several other issues. My mother died young, so I can't compare my looks with her. However, her sisters look great and have aged gracefully. My maternal Grand father died at the age of 52. I have pics of him as young as his early 40's and he looks OLD! OLD! Like 70ish. If I sent you a pic of my Grandfather, could you determine if by his looks if he was a candidate for Werner? Maybe I just lucked out and got the bad "genes." I am having horrible anxiety over the loss of my looks. View Answer		2009-03-21


	So I have Cadasil. I am thinking that stem cell research could cure this notch 3 gene. What do you think? View Answer		2009-02-21


	I had asked a question earlier about Cadasil and was given the very same response of what can be found at any Cadasil site. I want to know what isn't in the web sites. The doctors say no big deal, it's just a mutation. I want to know if I am going to have strokes, if not strokes then what if anything. Is it unheard of to have symptoms at 43. View Answer		2009-01-21


	Is CADASIL a real issue or not? Some sites suggest you have a notch-3 mutation, no big deal. Others suggest that it is terminal, nothing you can do about it except wait for the big one. I have been treated for MS for 7 years and things started happening that were not related to MS that's when the blood work came back CADASIL. I am off to the Cleveland Clinic soon unless I can find some solid info about this issues. My docs don't seem to concerned. So big deal, not a big deal....terminal or just a bother? View Answer		2009-01-12


	I have contacted a few people about my wife being tested for MODY. After talking to Mr. Ellard some years ago, he insisted I have her tested and suggested an American company instead of British. Ms. Spiro gave me this website link in an email. I need to find a testing place and to know the costs of testing. Can someone help? View Answer		2008-12-02


	Dear Sirs: I suffer from severe Hyperhidrosis and Insomina, I call my condition a stress disorder. I have been doing research for the past 20 years and come to the conclusion I suffer from a lack of the protein CREB. My blood work indirectly tells me this: My adrenal glands, dopamine and serotonin are slightly above normal levels almost all the time that I have been tested. My cholesteral is elevated and my DHEA is high. DHEA is protecting me from dieing. Is there a genetic test for CREB, to prove my theroy and bring me peace of mind ? View Answer		2008-10-25


	Hiii, I'm going to marry a person who has diabetes .He is 29 years old now,and he got it sience he was 25 yeras old. I know that diabetes is a multifactoral disease,but I need to know the chance of my children getting diabetes,I've heared that most of cases does not pass down through children.I dont have any family hiostory with this disease,and he has a brother with it.Is there any way to prevent this disease in the future. View Answer		2008-10-05


	I had mono at 8; developed a parotid tumor then; had many fibroid tumors in uterus and cysts on ovaries; developed pituitary tumor started as galactorehha and then changed to ACTH; removed most of tumor; removed adrenals to stop excess cortisol they were enlarged; now have been dx'd w/Ortho. Intolerance; chronic interstital kidney disease; have tumor on 5th cranial nerve 3rd branch; tumor on C1 paraspinal muscles; and T10 hemangioma; have scoliosis; peridontal disease and 'double jointed' in hips/legs; I am in great pain every day; and don't know what to be tested for. a piece of the puzzle is missing and nobody knows what it is -- do you have any recommendations? View Answer		2008-09-23


	My brother recently tested for CADASIL. The marker came back inconclusive:results low positive and negative. The MD may do skin biopsy test and/or repeat in few months. He had stroke 7 weeks ago and MRI suggest multiple strokes. Migraines started 3 years ago; will be 49. Has right side paralysis, speech and cognitive loss. In June it will be 10 years since I had stroke. Mine:hemorrhagic and no surgery. Before my brother's stroke MD said due to estrogen protecting me. I have visual and motor problems (mild) with mild depression diagnosed as being fibromyalgia:have all tender points and symptoms. Now not so sure. I get searing pains in brain:feels like along nerve. Should I have MRI to check for additional damage to brain since stroke? have genetic test for CADASIL to see if my test is more conclusive? Internist is aware of family history. Did initial blood work after his stroke for other diseases. View Answer		2008-03-17


	CADASIL is supposed to be a autosomal dominant disease, yet my cousin was diagnosed with this condition and my aunt and uncle were tested and they did not carry the abnormality. A paternity test was done and the uncle was found to be the true parent. How accurate is the genetic testing? These tests were performed in Canada in 2003. Stroke is not in the family nor dementia. Both sides. Uncles family averaage age at death, 90 same with aunts. What gives? How rare are mistakes, and how rare is a 'denoveau expression'?Would you recommend re-testing at a different lab at this time? Thank you. View Answer		2008-02-22


	My wife's family has been diagnosed as having CADASIL. I have been looking at some information on the web that contradicts information passed on through the family. It has been stated in family conversation that CADASIL can skip generations. I read today that it doesn't. My wife, at age 61, hasn't shown signs of having the desease, and dosen't want to find out. If, in fact, it doesn't skip generations, then she would like to get tested to rule it out for our two daughters and 4 grandkids. Any light you can shine on this would be appreciated. View Answer		2008-01-24


	I have a patient in their 60s who may have CADASIL and does not want genetic testing. In the patient's presence, their daughter has asked me in general terms about risk to the family. At present I have told her that CADASIL is inherited, but presentation is variable (and reminded her we are not sure her parent has the condition). I have given her the option to come and talk to me. I have strongly advised that none of the family should smoke, and that they should take standard precautions against vascular disease. What information/advice should I give? View Answer		2007-10-14


	what is the life expectancy for people with cadisals View Answer		2007-07-05


	My father has a chronic Kidney Disease that is not detected early. He has 8 children. What is the chance that one of his children will inherent or develop CKD in the future? View Answer		2007-04-02


	The father of a friend of mine possibly has CADASIL. This friend says it could take up to 1,5 years before they know for sure because the testing could take that long. What is the fastest method for testing this? View Answer		2007-03-30


	I am 49 yr old white female. For over 15 years I have been treated for major depression with panic and anxiety. I have chronic fatigue. about ten yrs ago i developed pulpy lesions over areas of my body that were difficult to remove. The Dr. or Derma. did not know what it was. My body temp. has for many years ran around 97degrees. Recently my Dr. said I have Metabolic Syndrome with Trig. of 744. For approx. ten years i have had chronic pain in my feet which no one can explain. Now I have yellow blisters on my hand which turn red and crusty. The Dr. says is Eczema. I have mild PCOS. Heat intolerance. Itchy feet. Chronic Constipation. Chronic Fatigue. Eye Pain.(mainly in the left eye) light sensitivity. distended abdomen. I have been trying to walk daily. After walking I come home and pass out cold for an hour or two. I also seem to be having weakness in the muscles in my fingers and hands. is there anything that covers all of these symptoms? Thank you. View Answer		2007-03-01


	I am homozygous for the MTHFR gene mutation. I do not have elvevated homocystine levels but I do have Primary anitphospholipid antibody syndrome. I am positive for both anticardiolipin antibodies IgG and IgM as well as the lupus anticoagulant. I have had one DVT and 3 superficial thrombi. Is there any relation between the gene mutation and primary APS? Secondly, my daughter, who is diagnosed with schizoaffective disorder, has had 3 brain MRI's showing multiple white matter and subcortical brain lesions. One of the disorders her nuerologist has mentioned is CADASIL. Is there any evidence that the MTHFR gene mutation is associated with CADASIL? Neither one of us has been checked for the notch3 gene mutation at this point. View Answer		2006-12-19


	60 yo Cauc male, hx of hypercholesterolemia, heavy alcohol consumption, recently diagnosed with atrial fibrillation and hemochromotosis. The patient receives phlebotomy but has refused the recommended pacemaker. First, is there any lab test on a typical Comp Meta Profile which would suggest hemochromotosis ? How is generally diagnosed? Is there a mechanism by which cardiac cells could be damaged by hemochromotosis? The cardiologist is suggesting a pacemaker with ablation which the patient is fearful of. What is the efficacy of this intervention? View Answer		2006-12-09


	My husband's sister has been diagnosed with CADASIL and my husband is going to be tested also for the condition. Our daughter, 36, had a slight stroke in 2003 (presented to the eye) and during genetic testing it was determined that she has a Factor III mutuation resulting in a hypercoagulative state. She is on coumidin daily, along with watching her diet. Based on this latest information, could the Factor III disorder be linked in any way to Notch 3 genetic defect? My husband and his mother both tested positive for the Factor III mutation and ancestors are from France (mother) and Sweden (father). My test was negative. Please advise. View Answer		2006-11-14


	I am 55 yr. old and have or had the following: 1. iron deficency, anemia, anemia of chronic diseaase 2. * PT 20210 G/A Gene Mutation (from my father) 3 .* Factor V Leiden (from my mother) 4 .* glaucoma (first my family) 5. manic depression with depression tendencies 6. * pulmonary embollism 7. hypothyroidism (moither and sister and paternal aunt) 8. ovarian cancer 9 .* acute gastritis 10 * abnormal bone marrow (no leukemia) 11.* Reynaud's Syndrome (first in family) 12. Cholesterol currently under control 13. blood pressure currently under control 14. * hearing loss (unknown cause)) 15. * adrenal insufficiency 16. * myeloproliferative disease 17. * essential thrombocythemia 18. PTSD (finally resolved) 19. * 108 lbs. weight loss in 12 months 20 * myleodysplastic syndrome 21. high cholesterol (currently 128) 22. blood pressure issues until weight dropped <170 The (*) items have been diagnosed since October 3, 2005. I've been the family historian for 36 years and no one has similar problems other than the ones I noted. Am I free game for more Autoimmune diseases because of what I already have? What does future hold for me? My siblings? My children? View Answer		2006-10-26


	I've been diagnosed with multiple auto-immune disorders: PT 20210 G/A Gene Mutation, Factor V Leiden, Thrombocytois, Thrombocythemia, Addison's Disease, Hypothroidism, Myelodysplastic Syndrome, Myeloproliferative, Dyslipidemia, Iron Deficiency Anemia, Anemia of Chronic Disease and Reynaud's Syndrome. With so many health issues, my doctor says I'm probably the only one in Washington State. Possibly 1 in 5 million. Is it possible to have one gene in common with everything? Or possibly a particular combination? What should I look for? What's next? View Answer		2006-10-17


	My husband is positive for HLA-B27. He also has a low RH factor. He has all the signs of Beta Thalesemia minor. He had a CT last yr that showed a brain lesion and has most of the signs of MS. We have not had confirmation on the last condition (MS), yet are very concerned. Our son also has the signs of Beta-T minor. Should we continue having test after test run with our regular Dr or move on to a specialist for testing? Will a genetics Dr be able to help confirm MS, as well as the other issues? My Husband is 34 yo and has days where he can barely function, he cannot work and the mood changes have made our lives hard. Memory issues are also a major issue as well as his pain levels. View Answer		2006-10-10


	My family lived in/around the nuclear testing of the 1950's S. Nevada N. Arizona. We all became ill with various different chronic disorders at the early adult stage (17-25). There are 5 siblings, one with rotten backbone and neuropathies, confined to sitting 24/7, David, born 1949, symptoms started age 22 with back brace; one with abnormal rapidity inweight gain/loss, heart subject to recurrent infections, onlist for heart transplant but his size precludes actually ever recieving, started age 29; Dan, first one born during testing, diead age47 after lifelong brittle bones, debilitating body aches pains, died age 47 brain cancer spread from lungs that came from??, myself, lifelong severe recurrent migraines, uncontrollable htn, diagnosed non local pheo,no operations due to fear of blowing blood vessels during surgery, whole body aches and rigidity, neuralgic and neuropathic., started loss of abilities age 21, decreasing, frequent globular cutaneous purience and infections, ready to die, Debbie, died massive blood vessl failure age, 45, life long misery, opoerations," the hypocondriac", headston reads I told you..,What the heck is this? I'm sick of doctors telling me go away., which I'm afraid is close.Can this be genetic or radianation induced? View Answer		2006-09-25


	I recently suffered a cerebellar stroke. I was told that the cause was a rare disease call fibromuscular dysplasia. In my case it developed in the bottom half of the brain. I am trying find out any information I can on not only the disease but that it is in the brain itself. Can you help? View Answer		2006-09-17


	My husband has End Stage Renal Disease and is on dialysis. He was diagnosed 6 years ago, but there's been no firm understanding of why his kidneys failed. He does not have diabetes, and there's no known history of diabetes in his family. He does, however, have high blood pressure. Several members of his family have suffered from gout, including his maternal grandmother, maternal aunt, and his half-sister. His maternal aunt has also had high blood pressure. About 6 months ago, her creatinine levels began to rise and her doctor had a fistula put in her arm in preparation for dialysis, although she has not yet begun dialysis treatment. No other known family members have been diagnosed with ESRD and placed on dialysis.We want to have children, but my concern is that this condition or propensity for this condition may be heriditary. Are there any tests that can be done to determine if this condition could be passed on to our children or the likelihood, based on known family factors, that our children could develop kidney disease? Who can perform these kinds of tests? View Answer		2006-07-18


	I had a positive genetic test for CADASIL several months ago. My brother and sister are unaware of this and presumably, as I was, unaware of this mutation and its effects. They each have a 50% probablity of having the gene mutation, too. There is no cure, no treatment. I sometimes wish I did not know I have it as I wait for symptoms. Is it ethical not to tell them what I know? View Answer		2006-05-31


	I have a friend (no, really, it's not me, it's really a friend) :) whose mother was recently diagnosed with CADASIL. What is the etiology of CADASIL; more specifically, at what age do symptoms usually begin to appear? If my friend suffers from migraines in her late 20s, is that an early warning sign (since migraines are a symptom of CADASIL)? Is it possible that her migraines are unrelated to CADASIL, and are perhaps related to the stress of dealing with a parent who suffers from debilitating migraines and dementia? Obviously, I ask because I'd like to be able to console my friend with alternative etiologies for her own migraines. View Answer		2006-03-20


	My maternal grand mother had an extreme case of osteoporosis. My mother, age76, has recently been diagnosed with a fractured sacrum. She has osteoporosis but has not had fractures before this. She is an active person. She works(making custom draperies etc.). She gardens. She took hrt until 2002 when they were deemed bad for you. And has taken actonel for 6 or8 years as well as calcium. Calcium for longer. Is there any help for her at this point. Is there a study which might benefit my daughter or myself in the future. My daughter who is 35 has a paternal grandmother who is severly handicapped from osteoporosis View Answer		2006-03-19


	I have been very ill for months. For whatever reason numerous doctors in my town, just can not figure out what is wrong with me. I have had one test after another, inculdinng a spinal tap which went south. One doctor mentined a genetic test that was not covered by insurance, might be the answer. When I inquired as to the cost,,, I will not be able to afford it afterall. The test was cadasil. After reading about it, it sure sounds like it might be what I have and what my Mother had. My Mother seemed to ave the same symptoms as what I am having, and she was misdiagnoised and ended up passing away from bone marow cancer. My question is this.. if someone has this disorder, is there any help or do they just live with the health issues. Also, if left alone can it lead to cancer? My issues are -stabbing pains in my head, confusion, joint pain, numerous growths in side mybody - ie: pre canceroius colon polyps,benign polyps in my espohagus, very large cysts ( 8) on my ovary, cysts in a left sinus, now I have liver tests comming back with bad readings on the atl, and also an overactive tyroid.... it actually jsut goes on and on... and oh yeah, I have a very very high "ana" level.. that no noe, can seem to figure out... they also did a mri and mra and the mri came back showing whie matter changes and acive de-mylanation.. which prompted them toe test me for ms... I am so confused and so sick of being sick and ran around form doctor to doctor , hospital to hospital... and just thought I would ask what you thought. Just incase. View Answer		2006-03-02


	If my father or mother is diabetic, can I also be diabetic? View Answer		2005-09-14

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