Why did I go through the effort of finding out my CF mutations? I am a recipient of a bilateral lung transplant, I no longer have CF in my lungs and I am living post transplant now 16 years. So, what can knowing my alleles do for me now? The answer to this is, I am not sure, but I am hopeful.
With all of the new corrector medications available for people with certain mutations of CF like Kalydeco and Lumacaftor, I was hoping that finding out what my genes for CF were, I would be further helped with my ongoing problems in my sinuses and possibly pancreas. My lungs no longer were those of someone with CF but my sinuses were still affected by my old disease and could continue draining into my lungs and causing infections. Better sinus health would equal better lungs health.
My ENT usually jokes with me whenever he feels I might need another sinus surgery. He says, “Too bad we cannot do a head transplant for you to correct your sinuses. But then we would lose your great personality.” Aw! He likes me, others may not feel that way. But since we are not living in the 30th century, or whenever they might perfect that operation, I am left with sinus surgery after sinus surgery. And risking my lung’s health with post-nasal drip.
I had not seen a CF physician in about 10 years. But decided it would be a good idea to get my genes tested and see if any new drugs in the pipeline might help me feel the best I could—help my sinuses and pancreas perform better. And once I got my mutations back from the CF clinic, I spoke with Dr. Claire Keating at NY-Presbyterian’s adult CF Clinic. I found out that I am homozygous for the most common CF gene in Israel—W1282X. It is a nonsense mutation, “a mutation in which a sense codon that corresponds to one of the twenty amino acids specified by the genetic code is changed to a chain-terminating codon.” That means the mutation signals the cell machinery to stop making the developing CFTR protein. No protein ever makes it to the cell surface where it is needed to work
My mutation is associated with a severe presentation of the disease. Which made me say, “Wow! I am still alive at 51. How did that happen?” Well, that is probably for another blog for another day. But once I learned my mutations, I felt really lucky to still be alive.
But back to my reason for getting tested, it was not to feel fortunate. Or kvell in my luck. No, it was to see if Dr. Keating knew of any new possible drugs for me to benefit from. And there is… one. It is called Altaluren and it is for nonsense mutations. Currently it is in clinical trials. I am keeping my fingers crossed with an ear to the ground in hopes that it is passed by the FDA. Unfortunately, because my lungs are no longer CF-lungs, I cannot be a in a clinical trial for it. The way they test for success is through PFTs so for me, that would not be accurate.
I am hopeful and feel blessed to have been given this much time to possibly benefit from all medical science has to offer, lung transplant included. In the meantime though, I will keep up with my exercise and nasal lavage to keep my sinuses working at their peak.