Dysautonomia (Autonomic Dysfunction) Community
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generations of dysautomia?

My family has 5 generations of documented autonomic symtoms that affect quality of our lives. It appears to be genetic. Classically we have hypermobility, mild to severe episodes of POTS, Fibromyiolga, lack of bowel motility, medication allergies, hypersensitive to thermal changes, autoimmune problems, pulmonary infections, Tachy Brady syndrome, mottled skin, dry eyes, and are fair skinned. We have a mixed family background that includes German, French, Native American. We were sent to U of W to be checked for EDS. The Dr. did flexibility testing and talked with us. His diagnosis; not EDS. He determined that we have dysautomia with related hypermobility. We didn't fall into his criteria but that we should become test subjects for one of his studies that was starting. The exam or health history was not thorough. Basically we were screened to be test subjects for a new study. Is there anyone out there that can do proper genetic testing and give us some answers. As a health provider I am astounded that there isn't more physician education and collaboration with specialist to help families like mine. We live in a remote area of Alaska so travel to be subjects is not an option. We need a conclusive diagnosis.
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612876 tn?1355518095
Autonomic dysfunction/dysautonomia is an umbrella for many, many different disorders, diseases, and syndromes.  There *are* a number of hereditary/genetic conditions which are either primarily classified as dysautonomias or cause autonomic dysfunction as a *secondary* symptom of the condition.  

First, I am not certain what the subspecialty of the physician was who checked you for EDS, but at least from what you described I am not 100% convinced that this was a thorough screening for ALL FORMS of EDS and that EDS should really be considered definitively ruled out at this point.  Please realize that I am not a doctor, so this does not constitute medical advice nor a medical opinion; I am merely a patient speculating and even this only on the basis of what you've said here.  However, I would encourage you to seek consultation with a genetic counselor and/or a rheumatologist to further pursue this matter if you are also hoping for a second opinion on this matter.

In my opinion, a genetic specialist might be your best bet.  Unfortunately, most of the autonomic-related genetic conditions are rather rare.  The hope is that at least a geneticist will have access to the right research materials and databases (and will have the tenacity and skills) to get to the bottom of this.  I could start listing hereditary autonomic conditions for you willy-nilly, but honestly it would be of little help because testing haphazardly for all of them would be cost-prohibitive (the genetic tests can be about $1000 or more per person for each test) as well as a massive waste of time.  You really need someone with expertise who can narrow down the field of likely suspects to a reasonable lists (or maybe down to just one possibility for all I know), and then to go from there.  If you do find a genetic expert and they say they don't know much about heritable autonomic conditions, let me know and I will give you the name of a medical textbook they can refer to for more information that may guide them in the right direction.  

I don't know what to tell you about living out in a remote area of Alaska, to be honest.  We have people who live in fairly major cities on the West Coast who have to travel all the way to the Midwest (MN or OH) sometimes to get their diagnosis completely hammered out because only partial diagnostic testing clinics for autonomic exist west of MN in the US currently, unfortunately.  I've never looked for autonomic specialists in AK (gosh, I hope I'm not embarrassing myself by getting that abbreviation wrong ... it's been a while since I had to refer to Alaska for anything I guess) for anyone before, but considering how hard it is to find them in several areas of the Continental US, I'm not surprised that you're struggling to get good diagnosis/care.  

If you find out what particular disease you need to be tested for, it's quite likely the testing can be sent away to whatever lab in the US is able to properly process that test (for many rare diseases only a few labs are able to process the test accurately), so your location will not be an issue most likely once someone figures out WHAT to test for.  Also, depending on what it is, there might be an assistance program to get the testing at low or no cost.  I can help you look for that when you find out what test(s) they are wanting to order.

I'm sorry this is so ambiguous and I don't have more definitive answers to offer.  If you would like, we could start slowly going through your family members one by one and going through individual symptoms with a fine-tooth comb and I could *try* to see if I spot something in one of my textbooks that might be a fit, but please realize that I have limited time and resources and that I'm not a doctor or a geneticist.  While I would love to help you, and am certainly willing to give it my best shot, your best chance will still be with an actual geneticist doing this rather than me.  

Welcome to our community and I look forward to getting to know you better!
Avatar universal
Thank you for being so informative, I have learned more, by reading postings on this site. More on our background. We moved to alaska from Oregon 2 years ago, so, we are not opposed to traveling to a clinic that has knowledge & can perform proper testing. My family specifically our women, have a long history of issues relating to this disorder. Most recently, we were seen by specialist's in Anchorage, AK and U of Washington about 1 year ago when my daughter became severly symptomatic especially with sever heart arrythmia's. She underwent testing by cardiologist, whom took family history and then referred us to a rhuematologist, whom referred us to the geneticist at U of W. We were hoping to get formal testing and diagnosis, but instead, informed we would be good test subjects. Our goal would be to have 1 clinic have all studies and test performed, with providers that have knowledge and access to information. Giving us 1 place to have records of all necessary test and diagnosis. Also ability to provide us with current reccomendations & therapies.
We have not sought further testing since wasting time, airfare & money and being burned by the genetics clinic in WA.
We're hoping this site may provide an answer of where to go.
Apologies for getting so lengthy, but the following history may give you a very shortened list of what I have undergone with this condition.
In my case, I'm 50 YO. I have undergone around 20 general anesthesia surgeries.  
My mother, daughter & I, have uncountable #'s of tests performed, illness's, hospitalizations, drug/chemical allergies,prescriptions etc. High incidence of childhood injuries, allergies and kidney/bladder infections (NO history of child abuse)
Pregnancy history:1 miscarriage at 4 months gestation, 2nd pregnancy: severe high BP (unknown cause) premature delivery, 3rd pregnancy: conceived twins, 1 died early and resorbed.
Urology: Uncounted #'s of bladder & kidney infections. 6 surgeries for kidney stones, different surgeons, Dr's & facilities.
Hypermobility syndrome has caused numerous issues including 8-9 surgeries for knees- spanning 20+ years, 4 surgeons. TNC diagnosis's, drugs, PT, alternative medicines, etc.
GI Tract: IBS, Internal intestinal hernia's; 4  surgeries in 3 years 2 different Dr's/facilities.
Other surgeries included partial Thyroid/Para thyroid surgery, appendix, colon surgery caused from lack of motility, hysterectomy, removal of 7 inch lipoma.
These are just the necessary surgeries.
Then there is all the hospitalizations for different episodes of vestibular damage, arrythmia's, abdominal pain, testing, office visits, varied & numerous diagnosis, treatments for infections, drug allergies causing anaphylaxis, and intolerances to many prescriptions beta blockers, muscle joint pain, irritable bowel syndrome, pain induced seizure, Glaucoma etc.
I have seen alternative medicine clinics including chiropractors, homeopath, osteopath, acupuncture etc.. I just keep pluggin along :-)
The past 2 months, I have been treated for: pnuemonia, and have continued to have a tenacious sinus & ear infection. I am now on my 5th round of antibiotics (types I haven't developed anyphylaxis to) I just had blood work drawn  for a full panel of everything including thyroid ..again. And bacterial cultures taken from my sinus's.
I have accepted that I am not a normal human specimen. But on occasion have bouts of depression associated with this. I keep my chin high for my daughters, and granddaughters benefit. My daughter battles the reality that she has not, and will not have a "normal" life. She also  has bouts of deppression, caused from the stress of "not feeling good" from autonomic disorder.
We feel having a specialist in autonomic disorders that understands, and has current testing, can better collaborate with other specialist and physicians that treat us.
Also having a site where other's speak about their concerns, symtoms and results also helps us understand that we are not the only family that is inflicted with the disorder.
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