Posted by sonia on October 23, 2010 at 17:03:20:
In Reply to: Re: What a week ! posted by Lib on October 21, 2010 at 12:09:37:
: : I ended up in the emergency room last saturday with low oxygen levels could hardly breathe ! after only six weeks another admission was suggested I get admitted so they started Tobra 240mg and Timentin (Ticarcillen ?). I was sent home on Home IV today to finish things off.
: : The whole thing with me is they still arent 100% certain it is CF. I saw the genetic counselor and apparently here they only screen for 50 mutations. While I dont have to pay for it, its only 50 mutations. I know Ambry screen for 1800 mutations.
: : The other thing that really stressed me was the counselor said it isnt 100% accurate anyway. Now Im really confused, not to mention stressed out.
: : They think its CF, they have been treating for CF, but until I have a genetic mutation identified they just cant be entirely sure !
: : I know becca mentioned here the other day she had two mild mutations. They think this could be the case with me.
: : Sonia
: Sonia as long as you are being treated for your symptoms diagnosis or mutation really doesn't matter. Nither does "mild" or "severe". Have they ever done a sweat test? Although a sweat test can also be negative and the person still have CF or as my mother whose sweat test was actually positive but she has no symptoms. My mutation is suppose to be severe but I'm 52 and have been pretty healthy all my life. I wasn't hospitalized or treated with IV's until I was in my thirties.
: I'm sorry your sick again so soon but stop worrying about diagnosis, mutations and being mild. It won't change anything. Concentrate on treatment,diet, rest and exercise.
Hi Lib, my sweat test was in the normal ranges but my symptoms are consistent with CF as my professor doctor says. He should know I guess he treats so many other CFers and works with the city major CF centre. I am asked to do a panel of selected CF genes but for the same cost I could send my DNA over to Ambry Genetics in California though I am on the other side of the world, they have told me what to do to get it there. Do you know if Ambry is reputable ? and if they are accredited by any professional body ? home IV finishes tomorrow I cant wait ! Im just sooooo tired. Sonia