Contributor: Ann Poorboy
I have ALWAYS loved to dance! To feel the freedom with movement in any form is how I express myself best. Whether it was dancing at a club, skating, or having a dance party with toddlers at the end of a Disney movie, the freedom of movement brings me joy, and brings me more energy to do the more mundane tasks on my list.
But what if you HAD to dance? What if your freedom of movement was replaced with involuntary movement. And by dance, I mean Chorea, one of the many movement disorders associated with rare diseases. What would you do then? A woman who lives near me had an involuntary movement in her leg followed by severe pain while Christmas shopping. At first she thought it was associated with a previous back injury, it wasn’t. She sought help, but medications, including steroids, left her with a different personality, and therapy didn’t eliminate the problem.
Like many people facing the onset of a movement disorder associated with a rare disease, she probably didn’t realize at the moment, that she was about to lose everything. Patients with these rare diseases often lose their jobs, their friends, their marriages, their worlds. Their entire support system is disassembled when they need it the most. I’m told, the hardest part for many of them, is that they don’t look sick. It’s difficult for friends and family to understand why someone is normal one day and quite literally spastic the next. So, without anyone else, patients go online and look for help. But they often have to pour through multitudes of websites to find answers. Here’s one tremendously insightful post I found for living with a movement disorder:
“Living with a genetic or rare disease can impact the daily lives of patients and families.”
Really?! I know there are better sites out there, as do the patients you’re working hard to treat, but this type of gloss-over for something that has imposed such a dramatic change in one’s total being. Patients are looking for solutions. They’re looking for treatment options that can help them, but often the online avenues they find don’t connect them to physicians who treat their disorders, or to the therapies that can help.
Movement disorders sometimes spread slowly insidiously. They transform a true dancer into an involuntary one and that’s when it ceases to be funny. Not all movement disorders are associated with rare diseases, but some are; and not all movement disorders are associated with terminal illness, but some are. It is sometimes a simultaneous life and death sentence.
For these patients, the diagnosis can often take years. For example Dystonia can be divided into primary and secondary types. Primary dystonia is considered a rare disorder, while secondary dystonia is more common. Some patients begin seeing symptoms as children, but aren’t diagnosed until much later in life. Chorea can be associated with many underlying disorders, including pregnancy. A root cause analysis in rare disease is taking diagnosis by exclusion to the extreme. I would let physicians know that sometimes, just sometimes, we are in search of zebras and not just horses.
For so long, movement disorders were considered “cosmetic” or “psychological,” but I’m really dating myself here. Now that we as a society understand these are neurologic conditions, there is hope that the Orphan Drug Act will inspire companies like yours to find a cure or provide relief for the symptoms.
When that day comes, my team will do what we do every day. Wake up and search for patients with rare diseases and connect them to your therapies. So in conclusion, as we enter the Thanksgiving holiday, I find myself eternally grateful to only dance when I want to. And if you aren’t so fortunate, know that my team is doing everything we can to find companies who have therapies to help.
I’d love to learn more about your association with rare diseases.