My son was diagnosed through the newborn screening. His sweat test was 43/58. He had "borderline" results after two sweat tests. My daughter's sweat test was in the 70's/80's. We were actually told that she was a carrier when she was 6 wks. after her newborn screening showed the F508 mutation. Not sure when the d110h mutation was discovered but she was born 1/31/10. She was considered a "missed diagnosis" after her newborn labs were sent back for review in 2014 and came back showing both F508/d110h.
I am pretty much on the same boat as you as far as my daughter having ZERO symptoms. And she is healthier than most of our friends children. It's frustrating but I also pray it stays like that for as long as possible. She is PS also, no vitamins or supplements. She was started on albuterol immediately after diagnosis but also never has had a breathing problem. We did CPT til she was a year and now do the vest. Also after she cultured staphylococcus x3 clinic appointments, they started pulmozyme. I am pregnant with our second baby and im anxious to find out if he or she will have cf also.
First of all, congratulations on your pregnancy! I'll be praying for you and your baby. Second, I'm soooo glad to hear of another symptom free child with the same mutations. PS, I also have an 11 yr old who does not have CF.
good day we are from Slovakia and we have son of cf mutation D110H and deletion of xenon 4-6 ake mate or prognosis for this mutation son 1 year without signs cf in addition to sweat 60 moles in reply thank you
good day our son has skrining on cf mutation D110H and deletion xenon 4-6 also does not have any symptoms 1 year ago how do you handle the ake mate experience? we welcome the healing of the Slovak republic
Hello. I'm from Slovakia. I have a son, 1 year old. Has mutations D110H and deletion exons 4,5 and 6. Is there anyone who has this mutation D110H ??? How are you doing? What are the symptoms? Well thank you. I greet all.
My 5 year old daughter has d110h and delta508. She has been healthy other than kid stuff like colds due to being in school. Last year she had recurring ear infections but then got tubes placed and has had no ear infections since. She is on Kalydeco and has been for a little over a year. She has no digestive issues. We did get a sweat test done a short time ago, for a research study. At 2 weeks old her results were 71 and 67. With Kalydeco the results were 24 and 25!!!
Thank you for your response. Our son has no symptoms. The salt test is 59 and 60, the pancreas functional. Unfortunately Kalydeco in Slovakia is not yet approved. Well, we hope. Kalydeco would be very helpful. In what condition is your daughter's breathing? I hope your daughter will do it. Could we stay in touch (viber, mail or Facebook)? Finally, we found someone with the mutation d110h, we are very excited. Well thank you.
She has never had an exacerbation. She has only be in antibiotic for ear infections. She plays and runs with the kids in her class without trouble breathing. I’m always interested to hear others stories especially people of the same mutations. We do her Vest twice a day and she does pulmozyme once a day. I’m available to chat on here or email whatever is easiest.
My daughter had a bronchoscope done last year. There was really no reason why other than her doctor felt it would be good to see since she was going under anesthesia for ear tubes. So after that procedure he told us that her lungs look completely normal and you would not know she has CF from what he saw inside her lungs. She does the Vest for precautionary reasons- to keep her lungs this way. It’s standard here.