Hey, I was reading your post and I have to say..this is the CLOSEST that I've ever seen anyone to my son's mutations. He has DF508/c.2789+2_+3insA. I've been trying to find someone with his second mutation, but so far no luck. I realize that it's not always possible to predict the severity of the disease based on the mutations, but I just wanted to get a sense of how rare his mutation was. My son Andrew was diagnosed through newborn screenings, and just turned 1 a couple weeks ago. So far he is pancreatic sufficient and has had no lung issues.
Hi
My daughter has just been diagnosed with this combination. she is now 3 months old and doing well. we are based in Ireland and cannot find information on this gene combination. How are you all doing since? I would be very grateful if you can help me. Hoping you are doing good?
My daughter has just been diagnosed with this combination. she is now 3 months old and doing well. we are based in Ireland and cannot find information on this gene combination. How are you all doing since? I would be very grateful if you can help me. Hoping you are doing good?
some info, hope this helps...
I'm not sure how these resources would apply to your daughter.
http://www.ncbi.nlm.nih.gov/pubmed/11101688
http://www.ncbi.nlm.nih.gov/pubmed/16189704
http://www.cftr2.org/browse.php
http://www.genet.sickkids.on.ca/cftr/SearchPage.html
Take care and God bless,
Rich
I'm not sure how these resources would apply to your daughter.
http://www.ncbi.nlm.nih.gov/pubmed/11101688
http://www.ncbi.nlm.nih.gov/pubmed/16189704
http://www.cftr2.org/browse.php
http://www.genet.sickkids.on.ca/cftr/SearchPage.html
Take care and God bless,
Rich
I just found this forum and thought I would give some hope for the folks that have delta F508/c.2657+2_2657+3insA combo. I am 52 years old and living a fairly good life. I was diagnosed at age 50 with genetic testing and a sweat test - 107. I don't really have any respiratory symptoms just all digestive. I now take digestive enzymes which helps a lot to digest foods. My main symptom my whole life had been digestive issues and the CF went undiagnosed since I did not have the classic respiratory symptoms and it was before genetic testing and newborn screening. If you have questions, send me a private message and I will be happy to reply.
Hi! I doubt you check this still but in the chance you do, let me introduce myself. My name is Amy and I have two kids with the same mutation as your child. We have started an online Facebook page if you would like to join. It’s just for families with these mutations. If you want to join, find me on Facebook Amy Bergan Ellison or just go to Facebook and search “cystic fibrosis 2789”. Take care!
CourtneyGerspacher
New member
Dwheeler14
New member
Hi, hope you are all doing well. Just to let you know our daughter is now 8 and has had no symptoms or problems so far. Her consultant is keen that she starts taking Trikafta. We are reluctant to start on long term medication, when she has no symptoms. Is anyone else taking Trikafta or have concerns about taking it? Glad of any advice you can provide.
The key with CF is to be proactive. To prevent any potential lung damage or other major issues. Prior to the correctors, we did chest physiotherapy 3-4 times a day to keep DS's lungs healthy and clear of any mucus buildup. He also took/takes a handful of medications and vitamins as well. He started orkambi at age 12 and has been on Trikafta for almost 4 years. He no longer struggles to gain weight, his cf cultures have been normal flora for the most part after ALWAY culturing something since he was an infant -- pseudomonas, steno. maltophilia, etc.
