One in a million: On being rare and undiagnosed

Image description: a gold circle with white inside in the center with many small gold dots around it. In the center of the circle reads “One in a Million: On being rare and undiagnosed. Disability Diaries”

One of the questions I get asked most often is “What’s your condition” and to be truthful, we don’t have a name yet for the overarching syndrome. So far it’s simply a seemingly never ending and ever expanding list of symptoms (many without treatment) and other diagnosis's that seemingly fit into a supposed overarching genetic diagnosis. As many of my doctors say “I’m in a class all my own.” For many have never seen such a combination of symptoms. 

This past January before Coronavirus took over the world we were lucky enough to be able to send off our saliva samples for genetic testing at a lab down in Maryland. Due to some research while looking for clinical trials, research opportunities and things of the like on the Boston Children’s Website I stumbled upon a curious finding, one that has allowed us to hopefully crack a piece of this ever so complicated puzzle. 

Image description: the Mass Eye and Ear cafeteria window looking out on the Charles river at sunset, light from the overhead lamps inside makes a pattern through the window. A view of Cambridge across the river and a small park with trees is visible.

At Boston Children’s exists a genetic research center called “The Manton Center for Orphan Disease Research” If you don’t know what an orphan disease means, it doesn’t affect orphans. Orphan diseases are simply a subclass of rare diseases and disorders reserved for the most uncommon. I sent an email to the directing coordinator and after a somewhat lengthy phone conversation about my, and our families health history they agreed wholeheartedly that I would be an excellent candidate for the program, as would the rest of my family. The offered us the opportunity that they were currently conducting with Whole Exome Sequencing in collaboration with GeneDx down in Maryland, the lab responsible for the initial sequencing. After the sequencing is finished it is sent back to the Manton center and resequenced for check for errors, before being analyzed, a report is drawn up and then sent to the provider listed in the (very long) paperwork. The best part? It’s all free!!!

For years we have wondered what in the world is going on with me, and to a degree with the rest of my family members, while seemingly unrelated we all have things with a confirmed or likely genetic link, as well as traits and symptoms that grandparents previously had that seem to have resurfaced with a generation skip.

This testing that will come back in the fall, likely September or October, and perhaps November if Coronavirus causes further delays may hold the key to identifying that genetic link, and perhaps genetic links, as it is already confirmed I have two genetic variants of “unknown significance” in the ARSA gene, which seem to cause a pseudo-deficiency of a certain enzyme.

While I take pride in being rare, as I feel it makes me all the more unique, it does get extremely frustrating at times. Mostly for the fact that absolutely no one knows what in the world is going on with me, despite their knowledge and expertise. In addition, many of my symptoms have no treatment or cure, making things even more  frustrating. 

None the less, while however frusterating the bad days might be, I take great pride in being rare, and hope to educate people on rare diseases and that they might not be as uncommon as people think. Doctors like to says in medical school “think horses, not zebras.” But there’s a lot more zebras out there in the world than even they know.

After-all, I am truly one in a million