I struggled emotionally after learning that after negative carrier and newborn screens, my son had cystic fibrosis. I’m now advocating for people with rare mutations.
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It took an agonizing five months to learn whether my second son had cystic fibrosis. After two inconclusive sweat tests, a DNA test finally gave us the answer.
There are many ways you can support a family with a child or children with cystic fibrosis. Educating yourself about the disease and its treatments and offering to help without being asked are some of the best ways you can show you care.
Addressing variability in newborn screening can prevent missed diagnoses and delays in early care intervention.
I had no idea what cystic fibrosis was — or that I had it — until six months of pancreatitis led to a diagnosis.
When my daughter was born, her newborn screening indicated that it was unlikely she had CF. But after months of mysterious symptoms, a sweat test confirmed her diagnosis. This unlocked answers not only for my daughter, but for our entire family.