Barth syndrome, an ultra-rare condition affecting only an estimated 150 people in the U.S. Jordan Karle, of Omaha Nebraska has a one-year-old son Jaylin who has it. Barth syndrome is a genetic disorder caused by a deficiency in the lipid cardiolipin, affecting energy production in mitochondria. It is characterized by heart muscle weakness.
Jaylin’s heart has been failing since his birth. KETV reports that Jordan heard about a potential treatment called Elamipretide, which has a brand name of Forzinity. The problem is the testing still would be a number of years before it could be prescribed. Jaylin wasn't going to make it that long. So mama Jordan got some other advocates and secured a meeting with the FDA Commissioner Marty Makary. They flew to DC to present the data showing the drug’s success, and was able to help secure the drugs approval.
The current approval is only for patients weighing 66 pounds or more, so Jordan will continue working to expand access. Emily Milligan, executive director of the Barth Syndrome Foundation, is hopeful that the FDA’s decision is a turning point for those fighting rare diseases. Both she and Karle stress that small patient groups depend on reasonable FDA standards as well as federal funding for research to make sure patients can access lifesaving medications.