Josh Hillman, a 23-year-old Harvard Law student from Alabama, has cystic fibrosis, the progressive genetic disease that causes frequent lung infections and wears on other organs.
…
[C]ystic fibrosis is not caused by one mutation, or a handful, but more than 1,500 different rearrangements in the code for the gene known as CFTR. The cutting-edge treatments — there are three available now and a fourth, still-experimental medication expected to be approved, all from Vertex Pharmaceuticals — cover the mutations held by some 90 percent of CF patients.That leaves up to 10 percent of people whose diseases are advancing without a powerful defense to slow them down. Hillman is among them.
…
Related on the SLP
Patients who are not eligible for the new medications have been left wondering if the kinds of treatments available to others will reach them in their lifetimes. And there is a time imperative: Only half of people who are born today with CF will live into their late 40s.
It’s a reminder that with complicated genetic diseases, progress, while rightly celebrated, doesn’t always extend to everyone at the same time.
Read full, original post: ‘We’re still waiting’: As cystic fibrosis drugs deliver new hope, not everyone is being swept up by scientific progress
