Although we may have had nine months to prepare, getting our daughter's cystic fibrosis diagnosis before she was born came with a unique set of challenges.
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Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A person must inherit two copies of the CFTR gene that contain mutations — one copy from each parent — to have cystic fibrosis.
With a late diagnosis, I had every reason to feel hopeless and alone, but getting involved and connecting to others truly gives me hope for my future.
Today, Vertex Pharmaceuticals Inc. announced positive Phase 3 study results for Trikafta® (elexacaftor/tezacaftor/ivacaftor) for people with cystic fibrosis ages 12 years and older who have one copy of the F508del mutation and one gating or residual function mutation.
When my daughter was diagnosed with cystic fibrosis as a newborn, I was shattered. But then, I decided I would raise her to know that CF was something she had, not who she was.
Our dream for our daughter, Eden, is the same one that parents have for their kids who don't have cystic fibrosis. We want her to be happy and realize her true potential.
Having lived with cystic fibrosis for 47 years, I want to pay it forward and share the life lessons I've learned with new parents of children with CF.
The U.S. Food and Drug Administration has approved the use of Kalydeco® (ivacaftor) for infants with cystic fibrosis as young as four months who have certain mutations.
The U.S. Food and Drug Administration (FDA) has approved TOBI® Podhaler™ (tobramycin inhalation powder), a dry powder formulation of the antibiotic TOBI, to treat lung infections caused by the bacteria Pseudomonas aeruginosa (P. aeruginosa).