After having spoken with many other patients I’ve noticed a commen theme in that nobody except a handful of experts in the medical community really wants to acknowledge, much less treat patients with some sort of Dysautonomia. I keep wondering why and what is so political about it that healthcare professionals will go to any length to avoid the entire issue, even terminating and sabotaging a patient’s care, or starting it just to discontinue it once the patient’s symptoms start improving.
There are a number of types of Dysautonomia, and although once believed to be rare the real truth seems to be that the official statistics don’t accurately reflect the large number of people with one of these afflictions.
Thus it remains an orphan disease/disorder and those who find themselves with one of these forms are often left to fend for themselves without adequate medical back-up and support, sometimes not even believed when the symptoms begin to appear.
I decided to do a little research and found a very interesting article about Familial Dysautonomia, a severe form which is strongly genetically linked to Ashkenazi jews. Often children with the disease don’t survive to adulthood and are so medically fragile that any demand on the body, or even an emotional stress can throw such individuals into an autonomic crisis.
Apparently the Synagogue has an unspoken taboo regarding the disease not wanting to “upset” their congregation, as one Rabbi put it. Few clergy and organizational leaders other than in the Orthodox community have been willing to publicly address the issue.
Dalia Laitin, a genetic counselor was unsuccessful at getting Jewish leaders to spread the word, and went on to develop a panel in her own lab to test for several genetic diseases at once.
One such lab which screens for Familial Dysautonomia is University Children’s Genetics Lab. You can contact them for testing at (323) 669-2271.
It was only a year ago that medical research undertaken at Fordham University in New York uncovered the genetic mutation responsible for this autonomic dysfunction. From this research sprang a few screening programs at selected labs nationwide. With 350 documented cases world-wide, a prevalence of 1 in 30, there are more than 20,000 carriers in the Los Angeles area alone. A catch 22, little government funding has been put into this disease citing the assumed rarity of it, yet there is no way really to claim rarity when routine genetic screening is not being done on a large enough scale to be able to determine the true prevalence.
As with many other diseases once thought to be rare (including, Sarcoidosis which 13 years ago was still considered quite uncommon and in which the literature was rife with misconceptions), accurate statistics are lacking and clearly under-representative.
Advocates state that further research into FD will also elucidate important vital information necessary to find treatment and ultimately cures for other Dysautonomias and related disorders such as Autism, Parkinson’s, panic disorders, and ANS problems that are secondary to Diabetes and High Blood Pressure (which already are on NIH’s radar).
With all the misconceptions floating around about Dysautonomia it isn’t any wonder that doctors don’t know the first thing about it and are afraid to touch it with a ten foot pole, but that still is no excuse for them not to get educated!
Junk science journal articles talking about the correlation between small hearts and deconditioning give research a bad name and do nothing to legitimize just how disabling a condition it is.
Many doctors with little familiarity with these conditions are under the false impression that it doesn’t need treatment even when the patient is clearly suffering. This is not only erroneous but cruel to the patient when there are at least a few things that can be done to reduce the symptoms. When someone walks in with these symptoms there really is no reason to delay testing even if it requires an out-of-town referral. Doctors; if you truly care about your patients, admit when you are not qualified and give them this very important referral expeditiously so that they can obtain the treatment they so badly need.
My pulmonologist (Dr. H.) made a big mistake by refusing to refer me and then charting that this work-up was “premature” while he didn’t think the same about suggesting I go to a psychiatrist before all other differentials are ruled out. It would be a shame to abort the search prematurely when doing a more advanced work-up sooner rather than later could possibly save a patients’ life and at least give them a better quality of life. For a doctor to take the easy way out (for himself) and resort to the position that the root problem is non-existant is not only undermining to a patients’ dignity, but wastes valuable time that is better spent on actually looking for the underlying condition most likely causing the Dysautonomia. The sooner a condition can be identified and treated the sooner the patient can begin to feel better. I found this interesting interview about a documentary called Undiagnosed; Medical Refugees which was written and Directed by Katia Moritz.
Interestingly, Katia is a psychotherapist and was afflicted with a hard-to-diagnose disease herself and even she was dumped into the psychiatric bin when doctors were unable to categorize what she had. She says that she was pretty good at advocating for herself but was shocked that even she had alot of difficulty defending herself when this happened to her, so she could just imagine how it was for others with rare or un-named diseases that were having trouble getting a diagnosis.
It’s interesting that for many other conditions such as Heart Disease and Diabetes medical professionals are always touting the mantra of “early detection” and “early treatment” so why should Dysautonomia be viewed any differently?
Diana Driscoll, a patient turned researcher has written extensively on this condition, created a forum, and has a prolific Youtube channel where she speaks about all sorts of topics of interest to doctors and patients alike. In this video Diagnosing Dysautonomia she discusses some of the tests that are done in a comprehensive work-up;
Despite her rather comical and light-hearted demeanor she is a very intelligent and knowledgable woman and really knows her stuff! The Quantitative Sweat Feflex Test (this is the one Dr. V. referred to as the Sweat EMG), and the Thermoregulatory Test (involves covering the patient with orange powder which turns purple in the areas where he/she sweats while placing the person in a heated box) are two of the tests done in a comprehensive autonomic work-up. The Tilt Table Test only detects POTS, so if yours is one of the numerous other types this test is not sufficient and your condition may be falsely ruled out if position does not trigger it so you need to go further than that in order to nail it down.
In her video she also states that for the detection of Gastroparesis there are several tests besides just the Gastric Emptying Test (something I didn’t know); for instance, one which measures the Peristalsis in the GI tract called the Sham Feeding Test. I had the Gastric Emptying Test but it seemed my Gastroenterologist (although she was well-meaning) really didn’t know where to go from there.
It seems to me from all the reading I’ve done that in society and the field of medicine (and especially within specialties such as Neurology) there is alot of shame and blame associated with conditions that defy definition and/or are unpredictable. For the most part Dysautonomia by its very definition is inconsistent and unpredictable; an autonomic nervous system out of control.
I’ve been thinking alot lately about how common it is in medicine for people to make very black and white assumptions about what things mean without looking at all alternate explanations. Too often you hear doctors say things like “weakness in the leg was inconsistent.” It is a shame that doctors are taught to interpret that as some sort of untruth on the part of the patient rather than the umpteen other possible reasons why a given symptom presents that way. Real life isn’t that cut and dried.
In the field of Neurology (which by the way was devised by males and was built on very sexist beliefs dating back to the era of Sigmund Freud) you will discover that there are all sorts of “tricks” used to determine the difference between “real” disease and what they consider some version of faux disease (which they view as anything from a mental illness mimicking neurological disease to out-and-out fraud). This is a very cynical way to view their patients and I think does patients a very grave disservice. It certainly flies in the face of any good doctor/patient relatinship and sets up a mutual distrust. Here’s a video illustrating alot of these tricks;
The whole premise this is based on is a generalization and there is always the danger of error in utilizing these methods. Just imagine how many patients who have something legitimately wrong are falling through the cracks and being misinterpreted as functional or faking and the ramifications this has nation wide! You can bet that many people with Dysautonomia and other poorly understood conditons world-wide are being sidelined and their diagnostic process being delayed or stopped because of such counter-productive techniques and the antiquated philosophies that surround them. Such practices belong in the dustbin of history and have no place in modern medicine.
As a general rule people mistrust what they don’t understand and can’t predict, so this just might be the crux of why there is so much prejudice and skepticism regarding Dysautonomia and thus the unwillingness to treat it. Any of the automatic bodily functions can flicker on and off like a lightbulb and they don’t always fit a set pattern. Their greatest consistency is in their inconsistency. A symptom can stop for the moment just as suddenly as it appeared. This is particularly true of those types of Dysautonomia other than classic POTS, so it can be difficult to catch the symptoms in a quantifiable way while they’re happening. I guess this must be partly why it takes an average of 7-8 years to diagnose. This is way too long and the cost in human suffering is massive.
There is a need for more research, as there are likely more forms of Dysautonomia than are currently named, but at the same time attitudes in medicine need to change and become more accepting, and healthcare professionals need to work with patients; not against them. Instead of looking to debunk these challenging conditions and avoiding dealing with them doctors should actively seek to study them and learn from them, coming from the core belief that the patient already knows something’s wrong. Of course; they wouldn’t be wasting their own time (much less the doctor’s).
This condition takes alot of our energy merely to get through the day. It’s hard enough to be ill, but then having to fight tooth and nail for everything we need to function in our daily lives adds an extra burden that only makes the journey more arduous.
This past week I was really relieved initially when I thought that my new GP would be making the necessary arrangements to start the IV Saline infusions, but got to her office and discovered that Dr. V. had not in fact specified “for Dysautonomia” in the paperwork she’d faxed over. Nobody had told me that. In fact just a week beforehand one of the new doctor’s office staff told me on the phone that everything was a go and that Dr. P. had everything she needed. Once again this plan has fallen on its face because each doctor seems to be looking to another to impliment it.
I left there that day exasperated and nearly in tears wondering if I would ever be treated. She’d not only forseen a problem with that, but wondered out loud whether her corporation would let her fill out airline forms or sign off on other paperwork, or give out of town referrals. Though Piedmont is Emory’s competitor she says it has political problems of its own. (At this rate I may have to look for a small private practice. Oh, God, Bernie Sanders and Elizabeth Warren, where are you now? Seems these multi-million and billion-dollar corporations are taking over medicine and that’s not good).
I told her I couldn’t imagine why on earth Piedmont would have an objection to her giving out-of- town referrals or filling out forms to support those referrals given the fact that neither she nor Dr. V. had in the end put the diagnosis in the official place where diagnoses need to go.
I also mistakenly thought that Dr. V. had entered the official diagnosis in my chart, but upon closer inspection of the records it did not appear on the list which contains all my official diagnoses on the right-hand side. In fact it had been entered as part of her notes (which is another thing altogether). For the purposes of treatment that alone won’t suffice, at least not for most doctors.
The nurse from the Medicaid waiver program was here today for her 3 month visit and noticed I was running a fever. It has been this way on and off for about a week now. My hair is still falling out everywhere.
Here it is only 4:00 in the afternoon and my Myoclonus is breaking through earlier than usual.
I should hear from Dr. P. sometime this week as to whether she can complete the tasks on the list that Emory abandoned before it was finished. Then I will know what I need to do next. It’s too bad that she got stuck cleaning up Emory’s mess, but I’m the one whom it adversely affects most. Knowing that there’s a whole community out there keeps my head above water, if only barely.
I hope that my plight will ultimately make things easier for others with these conditions who also struggle for access to healthcare. It’s been a rough weekend, but I wake up another day to fight the good fight.