Looking at little Nico Nieves walking, talking and always on the move today, you’d never imagine his scary start to life. He was the youngest baby to receive a lifesaving infusion of the drug Zolgensma at CHoR for spinal muscular atrophy, thanks to early diagnosis and prompt action from his parents and care team.
SMA, a progressive neuromuscular disease, occurs when there’s a lack of a protein that is vital to the motor neuron allowing for muscle movement and development. Infants with SMA usually have trouble breathing, sucking and swallowing, and fail to achieve important milestones like sitting, speaking, crawling and walking. Without treatment, most don’t make it to their second birthday.
Nico’s mom, Jessica, found out she was a carrier for SMA through genetic testing while pregnant. A couple months later her husband was tested and found to be a carrier as well, which meant there was a 1-in-4 chance their baby would have the disease. When Nico was born, his blood was drawn for genetic testing–then his family anxiously waited for the results.
It was three grueling weeks before Nico’s pediatrician had all the information and called on March 25, 2020 to let the Nieves family know Nico did in fact have SMA.
“I remember being on the phone, in the dark, standing in front of my bedroom window when I got the news. I have never felt so helpless or desperate in my life as I did that day. It was devastating,” said Jessica.
The first treatment for kids younger than 2 with SMA was approved in 2019 so, thankfully, there was hope for Nico. Zolgensma is a gene transfer therapy that provides the missing gene, allowing the body to save dying motor neurons. The earlier it’s given, the better so the Nieves family had an appointment scheduled with Dr. Amy Harper, who specializes in neuromuscular research and care, the very next morning.
“Dr. Harper took so much time to explain everything to us, and she made sure we understood before we left. I’m sure she had other appointments waiting, but she never made us feel rushed when we were asking questions. She has been an absolute Godsend to our family,” said Jessica.
Dr. Harper evaluated Nico and confirmed his diagnosis. Even at his extremely young age, there were mild signs of weakness. She was able to perform testing to see if he was a candidate for Zolgensma. Fortunately, Nico was found to be eligible to receive the drug.
“I first saw Nico when he was only 3 weeks old and then it took us another two weeks to get everything approved through insurance and get the medicine from the specialty pharmacy,” said Dr. Harper. “We were able to infuse him at 5 weeks of age, making him the youngest baby to receive Zolgensma at CHoR to date. He went through the infusion like a champ.”
In addition to Dr. Harper, Nico and his family have a whole team in their corner at CHoR, including neuromuscular physical therapists to support Nico’s progress and Suzanne Spivey, a nurse program coordinator, who serves as their point person for any questions or concerns that come up.
“I’ve worked with Nico’s family from the beginning and have enjoyed supporting them and getting them through learning of a new diagnosis, assisting in obtaining the appropriate gene therapy and most of all, watching Nico grow and flourish! I always look forward to seeing Nico and his family in clinic,” said Suzanne.
Jessica and her husband are awfully grateful and happy to see Suzanne too.
“I am an RN of 21 years, and I know firsthand how busy and chaotic our workplaces can be. I am proud to call Suzanne a colleague in our profession. During this difficult time in our lives, she was Nico’s advocate and a source of strength and hope. She was also very patient with answering all our questions and addressing our concerns. During Nico’s follow-up appointments she always comes to see him and check on his progress,” said Jessica. “I can’t even begin to describe the care that we received at CHoR. Amazing, first place, stupendous and outstanding are just some of the words that come to mind. They are ALL so patient, understanding and compassionate.”
For several months after his infusion, Nico came for weekly appointments so Dr. Harper and the team could ensure that he was safe post-infusion and monitor his progress. He’s doing so well, that he’s graduated to annual appointments at this point. And he’s not only walking, but talking non-stop, running, climbing, playing with his brothers, jumping, and exploring anything and everything. Nico also loves to build towers with his blocks, “read books” and play with his puppy, Kodak.
“Nico is sweet, cuddly and the absolute joy of our lives. I think his most favorite thing in his world is his daddy! He is crazy about him,” added Jessica. “Sometimes when we’re tired of chasing after him constantly, we remind ourselves that his little life could be so different, and we are grateful that he can do all of things he can do. Just like Dr. Harper always told us, ‘Nico has been given a new path,’ and we are so thankful to God for that!”
Nico’s outcome has been so successful in large part because he was treated quickly. He was diagnosed at a time when a mother’s carrier status was being tested more frequently in preparation for SMA to be added as a standard part of the newborn screen in Virginia. Two years later, on March 16, 2022, it has officially been added to the screening, which will allow all newborns with SMA to be identified as early as Nico was–if not earlier.
CHoR is a referral center for families in Virginia whose babies have been identified as having SMA.
“SMA is a time-sensitive medical emergency. If we find out a baby needs treatment, we drop everything. Our goal is to get them the infusion in under a week,” said Dr. Harper. “The infusions can cause serious side effects similar to the ones we may see with transplant patients, so they need to be done in the right hands.”
Dr. Harper and the team will check in regularly with all the patients who’ve received Zolgensma infusions to make sure they continue to do well long-term–and celebrate all their successes along the way.
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