Episode #21
The Harris Family and the fight against CMD
Betsy Harris was born healthy in October 2023. By four months her parents had noticed one leg looked different, and the answer seemed simple: a completely dislocated hip nobody caught at birth. She was casted, she started physical therapy, and the milestones still didn't come. At fourteen months her orthopedic surgeon suggested genetic testing. The results took until August, and the neurologist in New Orleans came back with congenital muscular dystrophy, a rare neuromuscular disorder affecting nerves, muscles and brain. She didn't know of another child anywhere with Betsy's specific mutation. Amanda Harris works in medicine and had never heard of it. Within two months, she and Tyler had started a nonprofit. Tyler and Amanda walk Andrew through what happens after a diagnosis with no treatment behind it. They explain how a few hundred emails built Betsy a medical team running from Boston Children's to the University of Iowa, how researchers at Atrium Health are breeding mice with Betsy's exact mutation so a therapy can finally be tested, and how Facebook groups led them to about ten families worldwide, including a mother in Ireland who'd been alone with this for five years. They also talk about the elephant sound Betsy makes when she's happy, which other CMD kids make too, and which became the logo. Their first Elephant Run at Jones Park raised over $70,000. The inaugural Fight CMD Golf Classic is November 16 at Windance Country Club in Gulfport, with registration at fightcmd.org under Get Involved. 3 Key Takeaways 1. The Delayed Diagnosis A dislocated hip caught at four months looked like the whole explanation, and it cost them time. Betsy was casted, treated and put in therapy, and the missed milestones got written off as a consequence of the hip. It took until fourteen months and a surgeon's suggestion of genetic testing to find out something else was going on. 2. Nobody Is Coming Pharmaceutical companies don't develop drugs for ultra-rare disease, so the Harrises were told plainly that there was nothing available, no one knew how long Betsy would live, and the only certainty was that it would get worse. That's the moment the nonprofit starts. Fight CMD exists because the alternative was waiting. 3. The Community Is the Research Budget Over $70,000 came in at a first-year 5K, from a Gulf Coast town where fifty-plus businesses signed on. That money is what funds the mouse model at Atrium Health, and the mouse model is what makes testing a therapy possible. If it works, it's the first therapeutic approach ever attempted for this form of CMD. Show Overview 00:29 What CMD actually is 00:57 A healthy baby and the milestones that don't come 01:34 One leg looks different at four months 02:05 A dislocated hip nobody caught at birth 02:58 The surgeon suggests genetic testing 04:46 Waiting on results until mid August 05:11 The diagnosis in New Orleans 05:59 A local nonprofit points them forward 06:35 Why nobody develops drugs for ultra rare disease 07:29 Time is not on Betsy's side 08:30 Raising a child who is nonverbal 09:41 Getting the best team we could get 11:14 Boston Children's sends them to Iowa 12:44 The world's guru has no case like it 14:47 Why it had to be these two parents 16:39 Building mice with Betsy's mutation 18:57 Where the elephant came from 19:59 Finding ten families around the world 21:21 A fifteen year old and a sixteen year old 23:11 Swallowing, feeding tubes, and quality of life 24:20 Toward a full gene replacement 25:23 A turnout the timing guy had never seen 27:38 Second annual Elephant 5K, May 15, 2027 27:54 The Golf Classic, November 16
