Kaeli Price had a cry so weak she sounded like a kitten when she was born in March.
That sign would eventually lead the North Carolina baby to Children’s Hospital of The King’s Daughters, where
neurologist Dr. Crystal Proud diagnosed her at 8 weeks with
spinal muscular atrophy, the top genetic killer of infants.
The type of SMA Kaeli has kills most children by 2 years of age, but the week after she was diagnosed, a new gene therapy drug, Zolgensma, was approved by the federal Food and Drug Administration that’s giving families of babies with SMA new hope.
On June 20, 3-month-old Kaeli became the first baby to receive the drug in Virginia since FDA approval, and the first of a handful across the country so far to receive the one-dose IV infusion treatment for children under 2 with SMA. The first baby in the country received the FDA approved drug on June 7 in Florida.
“My hope for Kaeli is that she’ll be able to sit and stand and walk and live a fruitful life,” Dr. Proud said. “It’s a life-changing drug that’s given us new hope and optimism we didn’t have before.”
This is the first gene therapy treatment for a neuromuscular disease, and it’s made headlines across the globe because drug company Novartis priced it at $2.1 million a patient, setting a world price record for a one-time treatment.
Kaeli’s parents, Kelli and Brandon Price of Belvidere, N.C., feel fortunate that the drug became available when it did, and that their insurance company agreed to cover it. “It’s hard to put into words how we feel,” said Kelli Price. “We feel like the timing was all God’s doing.”
Spinal muscular atrophy is a progressive neuromuscular condition that gradually wears down muscles to the point where children are unable to walk or breathe easily. Children with the most severe forms of SMA need ventilators to breathe and usually die in childhood
There was no approved medical treatment for SMA until 2016, when the FDA approved a drug called Spinraza, which allows a backup gene to produce more of a protein needed for motor neuron development. Dr. Proud, a pediatric neuromuscular neurologist, was one of the first doctors in the state to administer it in 2017, and now treats about 30 patients with the drug that’s injected into the spinal canal.
She was also keeping an eye on a gene replacement therapy, now called Zolgensma, that uses a virus to provide a normal copy of a gene that is missing or mutated in SMA. The drug could ultimately be less expensive and less trouble because it’s a one-time infusion. Spinraza must be administered repeatedly.
Patients in clinical trials of the gene therapy showed improvement in the two years following treatment — they could breathe without a ventilator and some were able to talk and sit and even stand on their own, developmental milestones that many patients with the most severe types of SMA never reach. Studies are still tracking its long-term effectiveness.
Dr. Proud treated a 5-month-old patient with SMA with the gene therapy in February at CHKD when the drug was still in the clinical trial phase. The FDA authorized the baby to receive the drug under the compassionate use, or expanded access, program, a way patients with an immediately life-threatening condition can receive an investigational drug outside a clinical trial. That baby, who lives in another part of the state, is doing well.
Kaeli is the first baby to receive Zolgensma in the state after FDA approval as a commercially available treatment, just weeks after a 4-month-old baby in Florida was the first in the country to receive it on June 7.
The Prices say Kaeli seemed completely normal when she was born. Her cry was weak, but that didn’t alarm them. A pediatrician at her 1-month well-child visit raised concerns about poor muscle tone and referred her to a neurologist.
The Prices had never heard of SMA, and were stunned and devastated to learn of its prognosis if untreated. Kaeli had two Spinraza injections before the family’s insurance company approved her for Zolgensma, but said she would need to stop the Spinraza injections.
The Prices had long conversations with Dr. Proud and read all the material they could. They decided to go with Zolgensma, even though the research on long-term effectiveness is still not complete. “We prayed a lot,” Kelli said. “In the end, the decision wasn’t that hard. We felt God gave us peace with the decision.”
Spinal muscular atrophy affects one in every 10,000 births. Dr. Proud estimates about 10 children a year are born in Virginia with SMA, and the sooner they can begin treatment, the better. Dr. Proud has been involved in a statewide steering committee to recommend newborn screening for SMA in Virginia, so early intervention can provide the best development opportunities for these children. The screening could possibly start later this year.
Dr. Proud said parents and pediatricians should be vigilant to symptoms like muscle weakness, limited mobility, breathing problems, spontaneous tongue movements, and swallowing and eating problems.
Three years ago, Dr. Proud’s main focus with babies with the most severe types of SMA was to help them live life to the fullest and die with grace. But Zolgensma and Spinraza are giving fresh hope to families, and also causing neurologists to recraft treatment plans for patients who are now expected to live longer, more robust lives.
“I used to think of winning little battles as major successes in these kids’ lives, but these types of treatments are completely revolutionizing the word hope for them,” said Dr. Proud.
Watch the video below to learn more.
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About CHKD
Get pediatric health news, health tips, and more from the region's most trusted name in pediatric healthcare. Children's Hospital of The King's Daughters is a network of pediatric healthcare services in more than 40 locations that stretch from Williamsburg to Elizabeth City, North Carolina, and Virginia's only comprehensive freestanding pediatric hospital.
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