The Road to Orkambi

You may have heard that there is a new medication for people with a certain gene mutation of Cystic Fibrosis.

The FDA has approved a new drug that treats patients with two copies of the most common gene mutation, Delta f508. Forty-five percent of CF patients fit this profile.

The Basics of the Cystic Fibrosis Gene Mutation

Each of the more than 1,500 known mutations affects protein responsible for the proper transport of salt and water through each cell, creating a thick, sticky mucus that clogs the lungs and digestive system. Each of those mutations in the CFTR (transmembrane conductance regulator) protein has a different faulty mechanism.

Think of the protein as an electronic garage door. Consider some ways in which the door can malfunction: Continue reading

The Price of a Few Months’ “Life”

IMG_0183

As if my body somehow can read a calendar, I am back in the hospital. I have been averaging an inpatient stay for IV antibiotics every six months or so, and I was last inpatient in December, so it’s about … Continue reading

And After the Rain, Sun-filled Adventures

Sisters at the beach

I’m still sick – it’s been about 2 1/2 months now, and am nearing the time when we need to decide as to whether we need to escalate or not. Like the saying goes, “April showers” and all that jazz… I guess … Continue reading