A Tale of Orphan Disease

Orphan disease: A disease that has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. An orphan disease may be a rare disease (according to US criteria, a disease that affects fewer than 200,000 people) or a common disease that has been ignored (such as tuberculosis, cholera, typhoid, and malaria) because it is far more prevalent in developing countries than in the developed world. Medical Author: William C. Shiel Jr., MD, FACP, FACR

This is a more transparent definition than I expected. I was looking for something about rarity or scientific lag, but here in plain language, industry drives the abandonment just as it does the care. Cancer and all of it’s Chemotherapies is big business. Some rare disease that is scientifically lacking in explanation, and easily treated with steroids or other methods used for a number of other ailments, not so much, in fact it may be hard to find a doctor in your area that will even have heard of it, let alone believe in it if you bring it up.

The orphan I speak of haunts me and a large, but statistically small, number of other souls from Iowa to Iceland. We all have one thing in common, neuroinflammation caused by an autoimmune process not unrelated to our also high Thyroid Peroxidase antibodies. There is more to be learned about Hashimoto's encephalopathy than is known and many of us who suffer are debilitated by neurological symptoms that disrupt our ability to be fully functional without the aid or the dreaded Prednisone.

I myself was given a one week trial and felt better than I had in over nine months. Feeling a sense of hope for the first time in a long while, I hung on the line for my neurologist to write me a prescription for a longer course, and much to my brain’s dismay was denied. Due to the fact that she basically does not believe in HE.

This is a neuroimmunologist at the University of Iowa. A research hospital. It’s a very disheartening experience to say the least, to be abandoned by a physician after being offered a medication that allowed me to walk outside of my home without a cane for the first time in three months. She sighted concerns that the steroids were unwarranted because of lack of clinical evidence. But the truth is, HE is a diagnosis of exclusion and in that sense, made by the lack of clinical evidence. Yes, this is how science works. We partly understand how something works until we research the heck out of it and find more evidence. But sadly, due to the facts that HE is rarely diagnosed and is easily treated with steroids, it’s a really unlucrative disease, thus an orphan.

All of this said while many research papers do stress the importance of trying steroids for patients with unexplained neurological symptoms and high TPO antibodies due the ease with which patient’s lives can be so easily transformed for the better. If left untreated HE can lead to a host of complications including coma and dementia like symptoms.

So, why is my neurologist hesitant to diagnose me and extend my treatment? I don't know, although I imagine it has something to do with industry and money, not with my care. It’s a beyond strange time to be living with chronic autoimmune illness. COVID19 has made the world a scary place for everyone, and especially for those who are just surviving. When my plumber asks if he needs to mask in my house?! And then has the audacity to say “ya know, were all gonna get this thing.” I want to close my doors to anyone but my partner and our cats for the rest of time. I really don’t want to get this thing. My brain is already freaking out due to the overactivity of my immune system. Imagine my brain on COVID.

And not to mention, steroids make you WAY more susceptible to infection, due to their immunosuppressive power. Isn’t it the damn near most ironic thing, that the only thing that could save my brain right now could also make a life threatening case of COVID a lot more likely? WTF? Autoimmune disease is rampant. I have at least two and it looks like I’m developing a third plus the HE. There are so many of us in this boat or shall I say bubble. We are damned if we do, damned if we don’t. Luckily, not all of us are orphans and many of us have found proper care and successful treatments, but almost all of us are on immunosuppressants of one sort or another. BUBBLE.

I’m attempting the near impossible feat of finding a second opinion while on Medicaid. Mass General Hospital has a neuroimmunologist who will diagnose and treat HE. I don’t understand how our medical reality got this far from homebase. Accessible patient centered care feels like a distant reality somewhere in a post capitalist society.

Until then, please wear your mask, and don’t make me ask.



By Pearl Braunheim

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This website is not a substitute for professional advice, and the content here is not intended for use in diagnosing, curing, or preventing disease. The site does not employ and is not overseen by medical professionals. Articles and studies listed here are intended solely for personal use and reference.  Although you will find a great deal of information about HE/SREAT on this website, HESA cannot provide medical advice. If you have HE/SREAT, or think you may have it, consult a qualified neurologist,

preferably one with experience addressing immune-mediated illness. 

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