Last week's CF clinic visit

We did the CF Clinic visit this past Wednesday.

Olivia is up to 10.7 lbs and didn't gain any length, 23 in. This puts her BMI up to 14.2 (originally 10.4, I think). We didn't change any of her meds this time. We did ask the nutritionist to send in a prescription for vitamins since the Creon ppl won't send her vitamins now that she is on TennCare. So far we haven't seen a script come in to the pharmacy for the vitamins so I guess we are going to have to send a message to remind her. The nutritionist gave the ok to start other solids besides the cereals.

We got the results of the genetics test. She has two different mutations:
1) deltaF508 - the most common marker
2) 394delTT - from what little I have been able to find, this one is considered a Nordic mutation (common in Denmark, Finland, etc.), eh, I guess she has a little Viking in her.

I need to find the time to sit down and do more research on both mutations. However, from everything I've read and been told, people with the same exact mutations can have totally different outcomes.

Kalydeco is NOT a miracle cure for ALL cystic fibrosis

I love that so many people love my little Olivia and want to let me know about this new "miracle" drug. However,

• It only works for ONE genetic mutation of cystic fibrosis. There are over 1400 mutations. Yes you read that right OVER 1400 mutations of cystic fibrosis and you have to have two mutations to get the full blown disease and not be a just a carrier. One from mom and one from dad. They can both be the same mutation.
• The chances of either of Olivia's mutations being this one is slim. It is from what I have read a rarer mutation. The lab work has been sent off to find out which mutations she has. I'm not sure how long it will take to get the results back.
• It not approved for anyone under the age of 6.
• Have you seen the price of this stuff ---- $294,000 for one year's worth !!!! http://www.nytimes.com/2012/02/01/business/fda-approves-cystic-fibrosis-drug.html?_r=1 You better hope your insurance covers this. btw Did you know that insurance has a lifetime maximum they will pay. Usually around a million, but this would max it out in 4-5 years!!

The good news for us is

• This gives researchers a jumping point for creating medicines for the other mutations.
• If she does have this mutation, in six years we can look into using it. Wonder how long it will take to get a generic cheaper version?!?

I'm glad this is available for other families. I'm glad people want to help us. I just wish people would quit pointing out this "wonder" drug once a month or every so many weeks, especially since I then have to explain that it probably won't help us. We are keeping up with the new breakthroughs in cf. In fact if you want to keep up try joining the CF Foundations Facebook page http://www.facebook.com/cysticfibrosisfoundation .

I know people are trying to be helpful. It's just frustrating to have to explain it over and over again.