A Future Full of Possibility

When Adam and Cristal welcomed their first daughter, Remi, they were overjoyed.

“She was a beautiful baby girl,” Adam recalled. Cristal remembers an easygoing newborn who was “such a good baby from the beginning.”

But shortly after her birth, the family received unexpected news through the mandatory newborn screening: Remi had spinal muscular atrophy (SMA), a genetic neuromuscular condition that can cause progressive muscle weakness.

“Remi has SMA, now what?” Adam remembers thinking.

For families facing an SMA diagnosis, time is critical. Severe forms of SMA can be life-threatening, which is why the condition was added to the newborn screening panels. Even milder forms can affect mobility, independence and overall quality of life if left untreated.

“SMA, or spinal muscular atrophy, is a progressive, inherited neuromuscular condition,” explained Isabella Herman, MD, PhD. “When patients are not treated, they develop weakness that can get worse over time, affecting their ability to sit, walk independently, sometimes even swallowing and breathing.”

Fortunately, advances in genetic medicine have transformed what an SMA diagnosis can mean for a child. And Boys Town National Research Hospital (BTNRH) is committed to making those advanced therapies available to the children in the Midwest – without extensive travel and the family hardship that creates.

“We have gone from supportive therapies because we did not have a definitive treatment to disease-altering genetic therapies and even disease-curing therapies,” said Deepak Madhavan, MD and Executive Vice President of Healthcare at Boys Town Hospital.

After being identified through the newborn screening, Remi received a one-time genetic therapy infusion at Boys Town Hospital. Today, Dr. Herman says, “She has done remarkably well. She achieved all of her milestones.”

Now Remi is running, climbing and jumping alongside other children her age.

“You’re not going to be able to tell, without us telling you, that she has SMA,” Adam said.

When the couple learned that their second daughter, Amelia, also had SMA, they knew they could turn to the experts at Boys Town Hospital. Amelia received treatment early, just like her sister. Today, both girls are thriving.

“We’ve been able to witness their daughters both develop into healthy little toddlers, achieving their milestones and not having to worry about what the future holds,” Dr. Herman said.

Your support helps make stories like Remi and Amelia’s possible. Together, we can continues advancing lifesaving care, expanding access to innovative treatments and giving children with rare genetic conditions every opportunity to reach their fullest potential.

Neurogenetics and Rare Disease Clinic

Pediatric neurogenetics is a subspecialty of pediatric neurology. Neurogenetics focuses on diseases of the brain and nervous system caused by inherited or genetic traits. Some children show signs of neurological conditions at birth, while others will not begin experiencing symptoms until later in life.

Sometimes called orphan diseases, rare diseases affect one in 1,500 individuals or less at any given time. These diseases often affect multiple organs, have hard-to diagnose symptoms and usually involve many complicated evaluations.

We understand the fear, sadness and stress patients and their families experience when facing a mystery illness. That’s why patients, families and their physicians turn to the Boys Town Neurogenetics and Rare Disease Clinic—for cutting-edge treatments and compassionate care.