I’m currently with my son at Children’s in the MICU. He has two class 1 mutations, and we will be meeting the transplant team to talk about evaluation and ask questions next week. Anyone who has been at this stage, are there any questions you’d ask or things you learned that you weren’t expecting when you started the process?
Hello fellow parents,
My son was diagnosed with a rare mutation at age two. He began a regimen of trikafta and zenpep not long after. Fast forward to age five and his fecal elastase test shows his pancreatic enzymes are normal and he no longer needs to take zenpep! His pulmonologist has only had one other patient with this type of result. However, as we just discussed with the nurse on his care team, there is no regular fecal elastase test in the protocol. There is only so much research out there since the access to Trikafta increased with younger kids beginning to take it. If your child has been on cf modulators for some time it can’t hurt to ask the doctor if you can literally scoop some poop and send it to a lab! Sending you my best wishes.
My husband and I are hoping to move forward with IVF with PGT-M testing. We’re both carriers for cystic fibrosis, and after a lot of conversations, research, and thought, we’ve decided this is the path that feels right for our family.
We already have one child with CF who we love endlessly, but we also know firsthand the medical, emotional, and lifelong realities that come with it. For us, IVF isn’t about trying to create a “perfect” child — it’s about trying to reduce suffering where we realistically can.
I’m 38, my husband is 50, and we know age adds another layer to this process and timeline. We’re trying to move thoughtfully but relatively quickly. We’re financially prepared for the process, but emotionally it still feels huge and honestly a little intimidating.
I’d really appreciate hearing from others who went through IVF with PGT-M specifically for genetic reasons — especially around timeline, embryo attrition, emotional expectations, and what you wish you’d known before starting.