A (Partial) History of Me

This piece has been entered in the Patients Have Power Writing Contest run by Clara Health designed to raise awareness about clinical trials. I am passionate about this cause and hope it will help raise much needed awareness about the power of breakthrough research.

The cause of my (primary) rare disease is unknown. There are a few candidate genes, and research is moving forward, but at this time they essentially have no idea why I was born with Moebius syndrome, a very rare disorder causing facial paresis, skeletal abnormalities and neuromuscular impairment.

My go-to description is “It’s probably genetic, but not inherited” – they have no idea what causes it.
That’s not very specific, is it?
That lack of specificity, of knowing, is one of the hardest parts of living with a medical condition for which there is no known cause. It’s funny, actually, knowing the cause wouldn’t do anything groundbreaking due to the nature of my condition… but I want to know. I like knowing stuff.
Knowing what has “caused” my condition would, in a way, help me to better know myself.
So the question is: how do researchers research these rare, complicated disorders where there’s no clear genetic link?
I’ve been giving blood samples for over 20 years, clearly that wasn’t enough.
Enter the National Institutes of Health and Natural History Studies.
Moebius syndrome is lucky, in that the director of the NIH, Dr. Francis Collins, took a specific interest in us and championed our cause. He was part of a group that proposed the first natural history study of the condition.
It sounds ridiculous at first, to voluntarily put yourself through a week of testing, a few MRIs, yet more testing, getting zapped by electrodes, and more NIH waiting rooms than you can imagine. But it was actually pretty darn amazing.
In the winter of 2016, I spent a week in February roaming the halls of the National Institutes of Health Clinical Center, one of the most amazing buildings in the world. I met with so many specialists, all who were knowledgeable about Moebius syndrome (a rarity!) and were invested in the discovery process. I did have a lot of tests, some of which were annoying and painful or just loud (I mean, who voluntarily has 2 MRIs?)…BUT I was made to feel as if this was a really cool endeavor I was taking part in.
I was made to feel as if I was part of the discovery process. It reaffirmed for me that Patients Have Power.
When you have a very rare disorder, getting over 20 doctors in a week who all know about it and don’t act as if they are totally outside of their element is worth it. In addition to feeling like I was positively contributing to research, I got valuable information about myself.
Now, what happened next?
In the movies, a Natural History Study would magically lead to finding THE CAUSE and everyone would rejoice. Unfortunately, real life is not that easy. The researchers saw many people with Moebius syndrome, some people with similar conditions (and a few who they were able to diagnose with conditions while at NIH), and made no groundbreaking discoveries. Yet.
The work continues.
What is powerful about clinical trials and natural history studies is that the data itself is as valuable as the personal experience and treatment that comes from it. The data, samples and cell lines created at the National Institutes of Health are now in labs throughout the country, where researchers are still unpacking the causes of Moebius syndrome.
They have faith that discoveries will be made, thanks in large part to Natural History Studies.
I went to the NIH and all I got was this amazing photo of my brain!