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 →
After my last hospitalization – which ended only 2 months ago – I had so many plans for this summer. So, so many. We had planned to attend a Gala, a friend’s wedding, and have adventures at the beach.. I envisioned myself in … Continue reading →
I have always dreamed vividly. In color, lucid episodes, recurring plot lines, and many, many memorable details. I’ve long tried to derive meaning and order of my REM-cycle storytelling, using my dreams to solve problems, make decisions, and even prevent … Continue reading →
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 →
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 →
Just a quick update. CF has really been beating me up lately. I developed a sinus infection about six weeks ago. I culture Pseudomonas Aeriginosa and MRSA bugs in my sinuses as well as my lungs. I tried to manage … Continue reading →
Ever since we moved into our home 8 years ago, we’ve always wanted to designate one of our spare rooms as “my room”. In our previous home, we had a furnished guest bedroom on the other side of the house that … Continue reading →