Those are my daughters mutations. I gave her the r117h-7t and her dad gave her f508del. As I read more about her particular brand of cf, I feel optimistic for her. Cf can be a particularly brutal and unforgiving disease. E is lucky she has this combination of mutations. When she turns 2 she will be able to take the drug kalydeco. Simply put kalydeco will replace the defective part of the cell that the mutations have caused. She is one of apromimately 2000 cf patients whose mutations qualify her for this drug. This is wonderful. She is so lucky. We are so lucky. Now to tell you that this drug will cost around $300,000 a year for the rest of her life. A life I hope is long and filled with everything her heart desires. This means that it will cost millions to ensure she has the long life I want for her. Millions for a drug that will help only a few thousand. Millions. Unbelievable the price of the drug.
I cannot tell you how happy I feel knowing that she has a drug available to her, that will effectively tell her cf to pound sand. Getting the diagnosis was so devastating at first. Reading about the severity of this disease. The worst possible outcomes. The hinge the doctors tell you not to google. Especially before you know the mutations you’re dealing with. The more research I do into this disease the more I see the need for research. My daughter got lucky, many do not. This disease is life shortening. Can be very aggressive. Very devastating to the families surrounding the cfer. The disease is financially scary and emotionally crippling. My daughter is only 2.5 months and I’m already looking at all possible outcomes. Her doctor has given me hope. Her mutations have given me hope. Kalydeco has given me hope.
The need for a cure is paramount.
If you’re in a position to donate to cf research please do.