What if you had a super-rare disease and thought you were the only one on the planet who had it?
What if your medical team suspected you might be right about that because they’d never known anyone with your particular set of symptoms? What if that same medical team diagnosed you with similar-but-not-quite-right diseases?
Lilly Grossman feels your pain.
The Atlantic details from the time she was a little kid, she has suffered from uncontrollable tremors that robbed her of her ability to sleep soundly. At first, they only happened at night, but gradually, they began to interrupt her every waking moment and she ended up wheelchair bound because of balance issues.
Lilly and her parents went from doctor to doctor and received one wrong diagnosis after another–all well-meaning, but all incorrect. The light at the end of the tunnel appeared with her parents, Steve and Gay, found out about IDIOM, or Idiopathic Diseases of Man, a clinical study conducted by Scripps Health Foundation and led by Eric Topol, MD. Also assisting in the study is Dr. Topol’s daughter Sarah Topol. The study uses whole genome sequencing to help determine the causes of idiopathic human diseases that defy diagnosis, or don’t respond to treatment.
Lilly’s genes were sequenced, and then an amazing thing happened. Suddenly, she wasn’t alone. The sequencing determined that Lilly has a mutation in a gene called ADCY5 that causes movement disorders. There was only one other family that had surfaced on the IDIOM radar with ADCY5, and Lilly was prescribed a medication that had helped them. For the first time, she was able to sleep soundly.
Lilly was featured in a National Geographic article, and soon, other families were contacting the Grossmans with similar stories. Another result of the article was medical professionals began to reevaluate patients for whom they had no conclusive diagnosis, or who were not responding to standard treatments. A community was born.
And the best part, medicine aside, is Lilly was crowned Homecoming Queen, graduated from high school, and is now a full-time college student. And all she had to do was be an answer to the question, “What if I have my genes sequenced by IDIOM?”
