July 9, 2008

CF Update

Today we had Sam's quarterly CF appt. It was pretty uneventful, which we like. In these for 4 months, Samatha has had her longest stretch of health, and she was more accepting of pokes and prods today than she usually is. She's growing up! She is not getting The Vest yet since it seems that CPT has been sufficient to keep her lungs clear so far. The Vest will make life a bit easier for us, but I can only express gratitude that Sam is as healthy as she is.

Weight continues to be a challenge, and while we didn't lose weight I think the road trip did level us off more than I would have wanted. She was 25th percentile height and 15th percentile weight. When we go back in 2 months, I am hoping for a chubby girl!!!

I am often asked, "So does Samantha have a milder form of the disease?" No and Yes...

Over 600 mutations have been identified, and Dan and I happen to carry the same one. It's been named "delta f508" and is the most common mutation. It accounts for 70% of the CF genes in the U.S. As Sam's dr gently reminded me today, those with the "508" do exhibit the standard characteristics of CF which are extreme digestion problems and lung infections. (Unlike some mutations that don't have the digestion problems or don't have many respiratory problems). He admitted (in his wonderfully cool and collected way) that he is a bit surprised that Samantha has not "even had IV antibiotics yet". So because she has 2 delta f508 she does NOT have a mild form of CF.

One thing we can hope for that could lessen the severity of Sam's CF is Modifier Genes. These are other genes that actually influence the CFTR gene and play a direct role in severity. They are actually starting identify these modifier genes in order to know which CF patients will have the hardest time in certain areas. I just read on a CF forum about a mom who has been awaiting test results. She knows her child got one delta f508, but she has been waiting for the results of the 2nd mutation for 11 months. They've now told her it could be up to 3 years because they are hoping to have identified the modifier genes as well. Science is wild!

As I've been writing this, I've caught myself wanting to say, "God has really blessed us." And while that's true, I don't believe Sam's health is necessarily an example of it. God has blessed us in thousands of ways, but if Sam gets really sick tomorrow and stays sick, that will not mean that He has just removed a portion of His blessings from us. I am thankful that health is not the apex of His blessings. In fact, I would venture to say after reading Matthew 5 that there are blessings those who are sick receive that none of the rest of us can fathom. What I can say is how grateful I am for Sam's health and humbly thank the Lord that today she has it.


Stephanie's Mommy Brain said...

What a precious girl! Once again, thank you for sharing this journey with the rest of us. There is so much about my healthy kids I take for granted. I really appreciate you reminding me NOT to do that, as well as what you live with daily.

I was wondering what size Sam is wearing now in clothes. I know the percentiles for her size are really low but those are hard to wrap my brain around. And of course she always looks like a peanut in pictures with Timothy - but what little sister doesn't? = )

She's 2.5 now? Ellie will be 2 next month and is wearing 18-24M, 2 T tops/dresses but 18 M pants (those short legs she just can't escape).

Love you, friend!

jill said...

thanks for that post! i've been reading, just haven't had time to comment. it's good that she is on the charts! jack's percentiles are much bigger than that :)

Carolyn said...

Hi! Thanks for the comment! I did post that incase someone else out there might be having the same issue. It was really scary when we couldn't figure out what was going on. Dr Warwick does not use pulmozyme at all at his clinic. He thinks it deteriorates the lungs faster than if you weren't on it at all and because a lot of people do have bad reactions to it but don't catch it because it is cf like symptoms. We took both our boys off of it and put them on mucomyst mixed with abuteral. That is what the MN clinic uses. It was a wonderful experience going to that clinic for a consult and if you ever get a chance to go down there I recommend it! Your daughter is beautiful!! Have a great day!

Carrie said...

Thank you for the birthday wish!! From seeing your blog...you have CF in your family, too. A cure would be grand!!!

Cara said...

Samantha is such a doll! I will definitely be praying for her.

Just to ease your mind a little...I have two delta f508 gene mutations and I didn't need IV antibiotics until I was about 20. :) With the way science is advancing, we can hope that Samantha will never need them!