Let’s end the waiting game on SMA screening for newborns

The moment everyone waits for in the delivery room after a child emerges is that first breath the baby takes. Hearing that breath and cry is reassurance and hope that life has begun. I had the joy of delivering more than 5,200 babies in my 26 years as an OB/GYN and was blessed to share that moment with thousands of new parents.

{mosads}In the months and years that follow, parents look forward to milestones like seeing their child crawl, walk, run, laugh and play. But those behaviors common to a healthy childhood are severely delayed or never happen for children with Spinal Muscular Atrophy (SMA). SMA is the No. 1 genetic cause of death for infants and approximately 10,000 to 12,500 people in the U.S. are living with the disease. It is caused by a mutation in a motor neuron gene, which causes nerves that control muscle function to stop functioning and eventually die. As these neurons die, it saps a person’s physical strength, taking away their ability to walk, eat or breathe.

Babies with SMA struggle to do basic things like sit up, crawl and breathe. Many children and adults with SMA are confined to wheelchairs and need machines to help them breathe or are fed through feeding tubes in order to survive. While children with SMA still grow cognitively, their bodies continue to deteriorate.

One thing that is troubling to me as a physician is that SMA is currently not a routine part of newborn screenings. SMA affects approximately one in 10,000 babies, according to Cure SMA, which supports families affected by the disease as well as funds research. The symptoms of SMA are similar to some other diseases, so when an infant first starts showing signs of developmental problems, it is often misdiagnosed.

In some cases, healthcare providers encourage parents to “wait it out” when a child misses developmental milestones, yet we need to encourage earlier detection and treatment for maximum benefits. Too many parents of children with SMA describe with great frustration and upset the pain of this terrible diagnostic odyssey — one they want to help other parents avoid.

In one study, researchers found that it took nearly four months to diagnose SMA Type I and more than a year for SMA Type II. This is emotionally and financially draining for parents as their child undergoes test after test in search of answers. The most common type, SMA Type I, is often fatal within one or two years of diagnosis. SMA Type II also often leads to a reduced life expectancy.

A simple blood test can detect more than 95 percent of SMA cases. If SMA becomes a routine part of newborn screenings, we could save families a tremendous amount of emotional and financial stress. The federal Advisory Committee on Heritable Disorders in Newborns and Children makes recommendations on what conditions should be added to newborn screenings, which are then passed onto the Recommended Uniform Screening Panel (RUSP). Following that, each state has to adopt and implement any recommendations from that panel individually.

The last time SMA was reviewed by an advisory committee work group in 2008, the work group didn’t feel there were enough pilot studies with public health laboratories to move forward. The work group also suggested “assessment of potential therapies of drugs and other treatment benefits.” That was eight years ago, and currently there are several promising drugs in the pipeline that can potentially treat SMA. There are six programs in clinical trials, including one that is completing Phase 3 and will be submitted to the Food and Drug Administration (FDA) for approval later this year. Screening has been piloted and found to be low-cost and effective.

Having any treatment to slow the disease has already made a huge difference for those who have participated in clinical trials. The Cordova family spent two years searching for answers for their son, Gabriel, who was diagnosed with SMA Type III at age 3. He grew up eating lunch at school alone and watched other children in his neighborhood ride bikes and play basketball, while he was stuck indoors and struggled to climb stairs. At age 11, he started participating in a clinical trial and slowly showed signs of improvement. The Cordovas were one of many families to share their stories in Cure SMA’s 2015 “The Voices of SMA” report. Gabriel’s father wrote that his son is now a teenager and a star student.

“His energy level allows him to ride his bicycle, and for the first time in his life, this summer he has been able to spend a few afternoons riding his bike with the neighbors’ children, still at a low pace, but manageable for him. That truly made my wife and I happily cry,” he wrote. “We believe that these improvements are worth so much for our family, and that they could do the same for other families suffering from SMA.”

We’re at the doorsteps of a solution to treat this terrible disease. The faster we can get a FDA-approved drug on the market, the faster we can give thousands of children a chance to lead healthy and productive lives. Having an FDA-approved drug will also provide a critical boost to efforts to add SMA to the standard newborn screening panel, which will lead to early diagnosis and enable healthcare providers to take quicker action to stop the devastating, irreversible progress of SMA. Both the FDA drug approval and RUSP processes can take a long time, so it’s important that both issues receive concurrent attention and support so that we can start treating individuals before it’s too late. August is SMA Awareness Month. What a unique privilege it would be to honor those affected by SMA by taking this important step.

Thousands of children like Gabriel are depending on us; we shouldn’t keep them waiting any longer.

Gingrey, M.D., is a senior adviser at the District Policy Group, a boutique policy and lobbying practice within Drinker Biddle & Reath. Dr. Gingrey is a former U.S. congressman who served Georgia’s 11th Congressional District from 2003 to 2015. The views expressed are the author’s own and are not an endorsement of the legislation mentioned.

The views expressed by contributors are their own and not the views of The Hill.