So I have a niece who was born when I was only 14. Named Madison. about a month after she was born she was diagnosed with Cystic Fibrosis. This is a genetic disorder that to put simply, makes it so her cells cant absorb/digest/process salt. It leads to alot of different issues. When I was first born I was so sick I didnt reach my birth weight again til I was 6 months. They tested me for CF and while waiting for the results they were told the life expectancy is 7 years. When Madison was born we were told ~30. However, people with CF are hospitalized frequently and a community develops amongst them, everyone knows each other. I have only seen one of them survive past 18, made it to 19. Madison's specific type is deltaf508 genetic mutation. As if CF wasnt bad enough, now we find out their are several different types. Well hers not only couldnt process and all that, but her cell also had a thin layer of a protein or amino acid or something that blocks the sodium from being abl to reach the cell. Bare with me, I suck at biology. Well a while back they developed a treatment for a similar form of CF that just didnt have the thin layer. Well The FDA is now giving a NDA (New Drug Application) for a 2 pill treatment. The first pill wipes out the layer that is covering the cell. The second pill is the same one that they use to treat the other CF. So while this is not really a cure, but rather a treatment, it would mean Madison will now be able to live a normal life. The treatment is expected to hit the market in 2015. Madison is not out of the woods yet. She is currently number 2 on the liver transplant list because her liver is failing, they just admitted her because she is losing weight and they want her healthy enough for the transplant if and when it comes. But for the first time in over 13 years, there is a proverbial rainbow on our horizon. I LOVE science :icon_bigg :eusa_danc :eusa_danc :eusa_danc :eusa_danc :eusa_danc :eusa_danc :eusa_danc Any CF patients on this forum per chance?
My little sister (4 years old) has CF and I think my Mom told me it was the deltaf508 you mentioned your niece has. I hope your niece pulls through alright.
Isnt this exciting? Its like we finally have a goal to work towards. This has helped lift all of our spirits. I am actually happy right now. I mean like... I feel ecstasy. I will definitely keep everyone posted. Looks like we have one last tough year to fight through before things get alot better. If I was honest I didnt think she would make it to 18. Her health has been really bad. She is in the hopsital being fed through a Gz tube which goes directly into her intestines so she wont throw the formula up, as well as being fed some sort of glucose formula through her central port which goes directly to her heart. She is in so much pain that she is on 60mg of morphine twice a day. So as you can see, we needed some good news Combined Ivacaftor (Kalydeco) & Lumacaftor (VX-809) FAQs | CF Foundation In case you want to take a look. Anyways, thanks for the support
excellent news. i went to college with a girl who had CF she passed when she was 26 or 27. a really beautiful person, there is a golf tournament in her name each year to raise money for research.
