We are here to extend our lives by THINKING DIFFERENT

Saturday, March 10, 2012

1st Kalydeco dose

I was very fortunate and blessed to get my 1st Kalydeco dose in the mail today.

Luckily my doc was willing to give it a try, even though I don't have G551D (I have DF508 and Di507). And my insurance covered Kaly for a really reasonable co-pay.

I'm really not expecting it to do much, but I figured it most likely won't hurt me so I should just give it a shot.

There are so many things that can influence how genes are expressed, such as modifier genes, exercise (Stanford states that exercising actually increases CFTR function) and the foods we eat. So I think our CF genes don't tell the whole story - another reason why just trying Kaly is a good idea in my mind.

I look forward to keeping you all posted on my progress or lack thereof over the next month(s).

Update so far is that I took my 1st Kaly at around 9pm with my dear friend and parents watching me over video chat.

Bottom's up!

According to Vertex: "In recombinant cells VX-770 increased CFTR channel open probability (P(o)) in both the F508del processing mutation and the G551D gating mutation."

From Annals of Human Genetics, 2003, by Rowntree et al,:
"Measurements of Cl- conductase of intestine and respiratory tissues of DF508 homozygote CF patients suggest, in vivo, that at least some DF508 CFTR can reach the plasma membrane"


  1. Wow, so exciting, Amy.....thanks for blogging about this. I'll be very curious to hear if it helps you at all. GOOD LUCK!!!!!

  2. Hi, I am wondering if you have any more info on i507del? I was misdiagnosed with DDF508 in the 90′s when it was thought to be F508 but was recently retested for the phase 3 homozygous trial for VX809/770. This test found I was was in fact hetero DelF508/i507del. A real shock to now find I am in a totally different group where the results are not so promising. I have never heard of anyone else with my combo until somebody on a Facebook group mentioned your blog. I just wondered how Kalydeco was going for you and or if you know anymore about this combo? I hope you are doing well anyway. I may be able to get on the combo trial now for heteros...but trying to get my hopes up after last time. I'm 35 by the way FEV1 45%.
    Kind Regards.