Letter: Raise awareness of cystic fibrosis

Sarah Murnaghan, center, celebrates the 100th day of

Sarah Murnaghan, center, celebrates the 100th day of her stay in Children's Hospital of Philadelphia with her father, Fran, left, and mother, Janet. (May 30, 2013) (Credit: AP)

How wonderful that Sarah Murnaghan received a lung transplant ["Girl, 10, gets two new lungs," News, June 13]. What an opportunity she and her family have to raise awareness of cystic fibrosis.

This is an inheritable genetic disease affecting the lungs and digestive system, and 10 million Americans are symptomless carriers who can unknowingly pass the gene or the disease on to their children. Caucasians are at highest risk, with 1 in 31 carrying the defective gene.

The American College of Obstetricians and Gynecologists recommends testing of both parents before conception.

Newborn screening is not a diagnostic or carrier screening program. There are more than 1,000 mutations of the gene; the screening only identifies about 45. Parents can discuss newborn screening results with their child's pediatrician. If you are unaware of your child's carrier status, as most of us are, you can place a note with their birth certificate for preconceptual testing in adulthood. The birth certificate is needed to obtain a marriage license.

People often say, "It doesn't run in my family, so I don't need to be tested." But in reality, genetic risk can be passed down for generations, and no one gets the disease until, suddenly, it hits your family.

For Sarah and the other 30,000 Americans living with cystic fibrosis, be aware of genetic testing.

Debbie Haupert, Nesconset

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