My daughter, Stella, was born a healthy newborn, but at one month of age, she very suddenly lost the majority of her muscle tone. Doctors suspected a diagnosis of spinal muscular atrophy, or SMA. SMA Type I is the most common form and, unfortunately, the most severe type, causing muscle weakness and trouble breathing, coughing, and swallowing.
After a painful diagnostic procedure, including extensive blood work, it was confirmed: Stella was officially diagnosed with this rare genetic disease. We were instructed to “take her home and love her,” as there was nothing we could do. As you can imagine, this prognosis felt hopeless.
That was twelve years ago. Today, despite the roller coaster ride since then, I’m incredibly thankful to now watch our Stella succeed in 7th grade. While she has a nurse, uses a wheelchair, a ventilator, a feeding tube, and lots of respiratory equipment, she is here with us and we’re so proud of her progress.
Fortunately, over the past decade, we’ve had many medical breakthroughs in effective treatment options for people who live with SMA. My Stella has certainly benefited from these advancements, and children diagnosed today can have even better outcomes. That’s the remarkably good news.
But new treatments on their own are not enough. It takes early identification, early diagnosis, and early treatment of SMA to maximize a child’s health outcomes. Taking fast action around an SMA diagnosis as early in life as possible will dramatically improve a child’s quality of life and can literally mean the difference between life and death.
The truth is, there is no time to waste for families like ours. Universal newborn screening is the best way to ensure every child diagnosed with SMA has the best possible chance at a healthy life. The U.S. Department of Health and Human Services agrees, having added SMA to its Recommended Uniform Screening Panel last year, and strongly encourages that every newborn be screened for SMA at hospitals all across the country.
Yet testing for SMA in newborns remains spotty in the U.S. To date, only 18 states have added SMA testing to their mandatory screening panels at birth.
Unfortunately, Iowa is not one of the 18 SMA screening states.
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The state is working to add SMA, which is great. But the implementation process is so long that it’ll be well over a year before Iowa babies are screened for SMA, the leading genetic cause of death.
Don’t get me wrong, I am grateful for the work being done in the state to implement this lifesaving measure. But given the availability of two, effective treatments — and more options on the horizon — the wait is devastating for parents like me who have children with SMA.
Stella has had various surgeries, illnesses, and complications because of her SMA. I can count on more than a couple of hands how many times we almost lost her. We celebrate milestones in big ways now, recognizing that she’s outlived her dire prognosis by over a decade.
Sadly, I have met far too many families who have lost their children to SMA. I know very well that could have been our story, too. We owe it to those families, all their angels who passed away far too soon, to do everything humanly possible to safely and accurately implement newborn screening of SMA in our state.
Iowa: Time is of the essence — SMA is a serious, life-threatening disease. And if your baby is born with SMA, it’s not a matter of IF symptoms will set in, it’s a matter of WHEN.
There is no downside to adding SMA testing to our already-existing newborn screening protocols. What’s more, it offers the best possible outcome for any newborn who is diagnosed. I think if you were standing in my shoes, you would agree.
We cannot sit back and wait for each state to decide if it’s necessary.
We can give children with SMA the best possible outcome and save families the unnecessary heartache of watching their children not make milestones or worse yet, losing their child because they didn’t get access treatment in a timely manner.
Sarah Turnbull lives in Pella.