Scripps Patient Who Cracked Genetic Disease Link Profiled by Science Website

After developing two seemingly independent and equally rare genetic conditions — one affecting her heart and the other damaging her nervous system — Scripps Health patient Kim Goodsell took things into her own hands.

She was convinced that her unusual medical combination was more than mere coincidence. She applied her pre-med schooling (which never resulted in a degree) to the mission of finding the “unifying theory” of her illnesses.

Months of dogged research finally led to a suspect — a mutation of the LMNA gene that had never been linked to both conditions. A genetic test proved her hunch correct.

Goodsell’s current physician, Scripps cardiologist Eric Topol, MD, says her journey marks an important watershed in medicine made possible by the proliferation of digital technology and the online democratization of information.

“People have been talking about empowering consumers since there was an internet,” he said in a recent article published by the science website Mosaic. “But finally, we’ve reached a point where someone can delve into their condition beyond what the top physicians . . . could.”

In another article published on the Huffington Post’s Healthy Living blog, Dr. Topol described how Goodsell recently used smartphone apps and an add-on ECG monitor to diagnose a heart blockage problem in her mother at home that required immediate attention.

“It represents just the beginning of where unplugged medicine can take us,” Dr. Topol wrote in the post.

The Mosaic article, “DIY Diagnosis: How an Extreme Athlete Uncovered Her Genetic Flaw,” is no longer available.

Read the Huffington Post article: From Pain Points to Point-of-Need Health Care