Results 1 to 4 of 4

Thread: What the Future Holds

  1. #1
    Junior Member
    Join Date
    Aug 2018
    Posts
    2

    What the Future Holds

    We have a 5 month old daughter that was diagnosed with the F508del mutation 3 weeks after she was born. Luckily she was diagnosed before she ever got sick and we immediately got her hooked with Texas Children's in Houston. The doctor is telling us that, on a scale of 10, she is a 9.5. We just want to know realistically, from a parents stand point, what are we looking at as far as her condition in the future and any other aspects of her life that will be affected?

  2. #2
    Junior Member
    Join Date
    Aug 2018
    Posts
    2
    I did not mention that my wife and I are both F508del mutation gene carriers. I do not know if that makes a difference or not.

  3. #3
    Super Moderator
    Join Date
    Apr 2006
    Posts
    20,899
    Our son was diagnosed shortly after he was born due to a bowel obstruction caused by meconium ileus. DH and I didn't know we were F508del carriers, no family history. During his NICU stay, we met his CF doctor who stressed being proactive --- chest physiotherapy (CPT) a minimum of twice a day, more if he gets a cold. Importance of keeping the lungs healthy despite no symptoms. Maintaining a healthy weight due to correlation between a healthy BMI and lung function. We took it one day at a time. I went back to work after 12 weeks of maternity leave and we were fortunate to find an awesome daycare --- kept the babies separate from the germy toddlers, had regular outdoor activities. DS is in school, is in a few activities --- gymnastics and trapshooting, loves to swim. He's also in the school band and plays trombone.

    We've had our ups and downs. We struggled with maintaining a 50th percentile in terms of weight. He was picky eater. He cultured pseudomonas before he turned 3 months, before he was anywhere besides home, so we started Tobi nebulized. He does his vest three times a day with nebs while playing video games. He really didn't get sick all that often, which was our fear, that he'd be the sickly CF kid. But in actuality, he rarely missed school because of illness -- vacation maybe. Orkambi was a game changer when he turned twelve. He gained weight, grew taller. He starts high school next week and we recently switched him to Symdecko.
    Last edited by Ratatosk; 08-23-2018 at 03:06 PM.
    Parent to a child wcf double delta f508.

    Started Orkambi July 2015
    Began Symdeko August 2018

  4. #4
    Super Moderator
    Join Date
    Jul 2007
    Posts
    2,077
    activity, activity, activity. I'm so sorry you're dealing with this diagnosis but catching it so early and at this stage in the drug development world your daughter was born in a good time. My parents always kept me active either through sports or activity at home (running as a family, trampoline, etc.) and exercise makes a HUGE difference for cf patients. It's critical for airway clearance and keeping lungs functioning well. Obviously at 5ish months old her activity level is low but creating a life style of exercise and movement as she grows up will be such a significant habit you can help establish for her.

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •