In late July, the Texas Newborn Screening Advisory Committee held a meeting— virtually, of course —to hear an update on the status of statewide newborn screening for spinal muscular atrophy (SMA). State officials shared updates and members of the SMA community shared public comments. Nicole Stickane shared her family’s experience in support of adding SMA to Texas’ newborn screening panel. Texas represents approximately 10 percent of all babies born in the U.S.; Below is Nicole’s testimony.
I was born and raised in Texas. My husband Daniel and I live in Southlake with our three children — Sloan, Luke, and Jordan. Our middle son, Luke, was born in July of 2016. Around 3 months of age, Luke started to fuss after feedings and was behind in early developmental milestones. We raised both concerns with our pediatrician at our 4-month wellness check. At their recommendation, we thickened his feed to address his feeding issues, but on his milestones were told that all children develop differently.
When Luke was 5 ½ months old, I took him to a hospital in Dallas to check on his labored, belly breathing, and a high fever. I will never forget that moment. I was at the side of Luke’s hospital bed, where he was still hooked up to oxygen and machines when the head neurologist told us Luke’s symptoms presented as a classic case of SMA Type 1, which can be fatal. He did not pause, however, in noting that this was an exciting time given the recent U.S. Food and Drug Administration (FDA) approval of the first treatment for SMA.
But, truthfully, all I heard at the time was that SMA could be fatal.
In February 2017, when Luke was 7 months old, he started treatment. Today Luke is 4 years old. He is vibrant, charismatic, funny, and sweet, just like he was when he was a baby. He completed his first year of preschool, where he took the bus to the same school his older sister attends. He loves to be outside and on the move at all times through either his manual or power wheelchair. He especially loves to dance, with the Baby Shark song being his current favorite.
SMA has changed our life. We started the Luke 18:1 Foundation to help raise awareness, provide funding for research and equipment resources, and to find a cure for SMA, which we do in partnership with Cure SMA. Our connection to SMA has taught our family to be more kind, compassionate, and aware of others facing challenges. I am very proud of our family and what it is becoming.
Since Luke started his SMA treatment, he has gotten progressively better with fewer illnesses, fewer hospital visits, and fewer hospital overnight stays. Because of treatment and access to equipment and therapies, such as occupational and physical therapies, we are climbing out of the darkness of 2016 and into the light of living a wonderful life. Not just for Luke, but for our entire family.
Recently, I have spent some time helping to urge Texas leaders to speed up consideration and implementation of newborn screening of SMA. With early diagnosis through newborn screening and early access to treatment and care, children born today with SMA can live a healthy, independent life. These are all the things I wish for my son Luke whose diagnosis, like many, did not come for several months after his birth.
There is no doubt that Luke could be stronger physically had we received a diagnosis at birth and started immediate treatment and care. Now our family’s goal is to make sure Texas screens every child born in our state for SMA as soon as possible to help save countless families the fear and uncertainty we experienced back in 2016. Newborn screening for SMA could also help reduce the need for more costly and intensive healthcare needs over a lifetime.
In 2018, the federal government added SMA to the national recommended screening panel and as a proud Texan, I say Texas needs to catch-up so it is not the last state to screen for SMA.
Early diagnosis through newborn screening and early access to treatment and care can make a world of difference for these children and their families. Please speak out and persuade your legislators to speed up the implementation of newborn screening of SMA. It will change people’s lives. Visit Cure SMA’s Advocacy Action Center to learn more.