I’m glad your sons have done well. My 3 year old son has this combo. Were/are your sons pancreatic sufficient? Are your sons on Trikafta now? If so how are they doing on it?Hi cherrysears,
5 years later, I hope your son is doing OK. Pseudomonas is a real bugger.
There aren't many with this combination of mutations, so it's probably not a big surprise you haven't seen much response. There are only around 200 people registered int the cftr2 database and I've got 1% of them. Both of my sons have this combination. They were both diagnosed within weeks of each other. The youngest first and the older in a sibling check.
They are now 39 and 42 respectively. They were both active in athletics in high school, primarily soccer, both on their varsity teams and both played trombone in their school bands (including marching band). The youngest is a chef for a food service and the other an environmental engineer for a petrochemical company. They are both married and the youngest and his wife adopted 2 boys after being foster parents for several years. So we have grandchildren we never expected we would have, considering we were told they had a 50% chance of living to be teenagers when they were diagnosed back in the 1970's.
Both boys have had their share of hospitalizations due to infections, pseudomonas most of the time. The youngest has to really fight to maintain his weight. And sometimes attitude has played a part in how well they are doing at any moment in time.
They have both been active in CF fund-raising. As a family, we have participated in annual CF activities raising $2000-$4000 per year since they were diagnosed. And the boys have participated in many clinical research studies. The oldest took fund-raising to a new level as an adult about 5 years ago, hosting an annual party. As the party grew over the years, he and his wife eventually were collecting (between direct donations and matching by his company) around $80,000 per year.
I hope this gives you a bit of hope...