Three weeks after giving birth to my son I got a call saying he had failed his newborn screening for CF. We went to UVA about a month later for a sweat test. He tested in the "grey" area. After blood work I was told they were only able to find 1 mutation, Delta F508. We then went every 6 months for sweat test. This summer we decided to join a test group that Johns Hopkins was offereing. They were able to find his second mutation... S945L. Our doctor has never worked with anyone who has these 2 mutations. I would LOVE to talk with someone who has this.
Hi Heather!
I have DF508/S945L! S945L is a more rare mutation, hence why they didn't find it until they did the expanded genetic testing. I tested borderline my first sweat test as well. However, it was done at our local small town family practice. When we got to the accredited CF clinic and they retested, I was positive (in the low 80s, always forget the exact number).
Anyway, not sure what all you are curious about, but I am a 34 year old college graduate, married with a 3 year old daughter. My current baseline FEV1 is in the mid to upper 60s. I am pancreatic insufficient on paper, however, require very few LOW dose enzymes. I actually didn't take any for several years, but after the birth of my daughter I lost a lot of weight due to breastfeeding and not eating enough, so they put me back on enzymes just in an effort to help to me gain weight. Prior to that I had never had an issue keeping weight on, and my weight is now back up to where I could actually stand to lose about 5 lbs! Lol. I do, however, have a history of pancreatitis, and my fecal elastase number is VERY low, despite needing few to no enzymes. The docs say they sometimes see the really low fecal elastase numbers in people who have had pancreatitis, so they think that explains the number.
So one of the excellent things about the S945L is that it is a "residual function" mutation, and it looks like Kalydeco should work very well for us! Just a matter of getting through the trials and getting it approved for it.
I'm sorry to hear of your little guy's diagnosis, but there is reason for you to have SO much hope, especially with all the stuff that's going on right now! Does he have any symptoms? My parents say I coughed from the moment I was born, and would sometimes cough until I literally turned blue. My mom kept taking me to the doctor, but they kept telling her that my lungs sounded clear. It wasn't until they witnessed one of my coughing episodes that they realized something was off.
So thankful for the newborn screening so that other parents don't have to go through what mine did (although some cases do still get missed).
Anyway, please let me know if there's anything else I can answer for you!
Take care,
Autumn 34 w/CF
