I just wanted to share that I just got approved for the new Cystic Fibrosis drug that treats the root cause of the genetic defect of my mutation!!!
While taken, Orkambi corrects the defect that prevents the flow of salt and water from passing through cells properly, which creates the thick, sticky mucus in all of my organs, especially the lungs and digestive system. It is for CF patients with the mutation Delta f508, of which I carry two copies. It is also the most common mutation, and responsible for disease in most of my major organs.
While not a cure, this drug can potentially decrease the frequency and severity of complications, thus leading to a better quality of life. There are no guarantees, and there are side effects, but this is a HUGE chance for me – for us. My husband and I are excited and nervous that Orkambi will provide at least some benefits to increase quality of life.
I hope to share the process here. I see my doctors on Monday and hope to begin the medication in next week or so. If you’re interested in following my story, please subscribe for updates and you’ll be notified whenever I publish a new post.