They rallied around ‘our boys’ as they pushed for a Duchenne cure. Where did that leave girls?
Deb and Shawn Jenssen were used to frustration. Their kids had been turned away from studies. Doctors had questioned if they could really be showing signs of a disease even as it made it harder for them to walk.
All of it helped explain why that brief moment in an Orlando hotel conference room caught their attention — why it felt like hope.
The Jenssens were there for another conference on Duchenne muscular dystrophy. Back home in Madison, Ala., two of their triplets were displaying symptoms of the disease, one that was caused by a faulty gene and that progressively sapped muscle function. The kids weren’t quite 10 years old.
On stage was Doug Ingram, the CEO of Sarepta Therapeutics, which was working on an experimental gene therapy for Duchenne. If the treatment worked, one dose could reshape and extend patients’ lives, which didn’t often last past 30. The company had run small trials of the therapy with narrow restrictions on who could participate, but for this next test, Ingram vowed, it wanted kids from a wider range of ages, with a wider array of Duchenne-causing mutations.
Maybe, the Jenssens thought, kids like their own.
“We’re trying to design a therapy that can benefit families across the globe,” Ingram told attendees at the Parent Project Muscular Dystrophy conference in June.
But then, as it always did, the other shoe dropped.
“We would love to develop life-changing therapies that could be transformative for 100% of children and young men who are living with Duchenne muscular dystrophy,” Ingram said.
There it was: men.
It made sense, based on the genetic underpinnings of the disease, that Duchenne was thought of as a boy’s disease. Most women who had the mutation, Deb included, appeared healthy, unaffected by it. If anything, the rare girl who showed symptoms didn’t have Duchenne; she was a “manifesting carrier” — something other than the boys whose photos filled advocacy campaigns and drug company websites.
