Whole-Gene Sequencing Helps Diagnose A Teen’s Mystery Condition

By Nick Venable | Published

This article is more than 2 years old


NBC public service announcements nailed it on the head. “The more you know,” the more you can do about something. And while knowing the entire process behind whole-genome sequencing is probably an unachievable task for the average person, it doesn’t take higher education to understand that it can be a life-changing option for everyone on Earth.

Since she was around 18 months old, Lilly Grossman has suffered from debilitating muscle tremors attributed to a rare muscle disease that fooled doctors into misdiagnosing her time and time again. But thanks to IDIOM (Idiopathic Diseases of Man), a father-daughter run study out of the Scripps Translational Science Institute at La Jolla, California, Lilla and her parents, Steve and Gay, all had their genomes sequenced. After over 13 years of not knowing, the Grossmans finally had an answer, though still not a permanent solution.

The researchers found three mutations in two of Lilly’s genes, one that would cause the tremors and another that would cause muscle weakness and a lack of balance, which are the likely causes for her condition. Ceasing a laundry list of medications, Lilly was soon switched to a small variety of supplements and the drug Diamox, which helped another family with a similar gene mutation. For almost three weeks, Lilly’s tremors were completely absent, and the family experienced the best sleep they’ve had in many many years.

Unfortunately, the tremors did return, but they’re nowhere near as frequent or severe. Most importantly, no one has lost hope. Identifying the problem and reaching a temporary solution were more than the Grossman’s ever expected, and now there’s the chance for future progress to add to Lilly’s quality of life. Take a look at her well-crafted blog here, and if you find your eyes feeling just the slightest bit moist, I’ll believe you if you blame it on dust. Science dust.

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