Newborn health screenings mean early detection, improved quality of life for WA babies

As a mother of two children with cystic fibrosis, I feel the heartache and struggle for other families living with similar rare diseases. Simply put, living with a rare disease is an uncharted journey for all of those affected — but there is power is holding hands and joining forces to bring awareness for our children in these difficult times.

Promoting newborn screenings will provide the opportunity to ensure early detection that can save lives and help treat thousands of children across our state. Screenings are essential — and they help catch rare diseases in our children and help them access critical treatment.

A disease is categorized as “rare” when it affects fewer than 200,000 people at any given time. Unfortunately, about 1 in 10 Americans live with a rare disease, and nearly half of them are children. Roughly 30% of those children will not live to see their 5th birthday.

Many of these diseases can be observed in the first few days of a baby’s life — symptoms of others can lay dormant. Washington’s Newborn Screening Program tests infants born in the state for a variety of potentially fatal and disabling disorders that can be treated if caught early in life. Examples of disorders detected by newborn screening include amino acid disorders, endocrine disorders, fatty acid disorders, among others. Without screenings, diseases are likely to grow undetected — in turn, causing severe disability or death.

Our family is one of the lucky ones. My children were diagnosed early thanks to their newborn screenings. Now, my children have a longer life expectancy because we utilize preventative treatments that can decrease the severity of lung damage in their bodies.

You see, cystic fibrosis is a notably complex and challenging disease. It’s defined as a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time, as well as pancreatic dysfunction which leads to malnutrition and a host of other digestive issues (this is mostly what we deal with on a day-to-day basis). Although there have been dramatic improvements and advances to specialized care, there is still no cure, and many lives are cut far too short.

The reality is, living with a rare disease can feel isolating, especially when doctors don’t have many solutions and treatments in the first place. The more attention and education we can create, the more doors we can open for affected patients.

I am optimistic that we will continue bringing awareness to rare diseases and embrace medical advances as they arise. And as new screenings become available, Washingtonians should embrace and adopt them. Our children’s health and quality of life depends on it.