New program spots baby’s rare condition

The news that the course of Ollie’s life was changing came from a doctor when he was only 9 days old.

It had been a hazy summer of protests and pandemics, and Ollie’s mother, Elaine Hurst, had been looking forward to the newborn “bubble.” Their family was also regrouping after moving from the west coast to Vilonia in March.

But days after Hurst’s son arrived in August, the pediatrician’s office called. Something didn’t look right in Ollie’s newborn lab test results, one employee said.

“Obviously, my heart dropped right away,” said Hurst. “You don’t want anything wrong with your kids.”

Ollie is the first Arkansas child to be diagnosed with spinal muscle atrophy – a rare and often debilitating genetic condition – through a new statewide screening program.

His case and its treatment demonstrate the value of the screenings in an era when advanced therapies can for the first time mitigate the most serious effects of some genetic diseases.

It also shows early returns for the 2019 state law that established the testing program. Spinal muscle atrophy is not part of such test panels in more than a dozen states, according to national advocacy groups.

So does the former home state of Hurst, California – “so moving here was just completely miraculous,” she said.

Ollie “is now scrambling back and rolling over both sides and lifting his legs like a champ, which he wouldn’t do at this point if he hadn’t had this treatment,” she said.

Spinal muscle atrophy is a neuromuscular condition that affects about 1 in 10,000 live births. It is caused by problems with a gene that does not make a protein to keep nerve cells alive.

Without the protein, nerves die and the brain cannot make the muscles function. People with the most severe form of the disease – Ollie included – eventually lose the ability to breathe and eat on their own. Most die in early childhood.

“You can hear, hear and speak normally. But you’re kind of trapped in a body that can’t move,” says Dr. Kapil Arya, associate professor of pediatrics at the University of Arkansas for Medical Sciences.

“It’s a very heartbreaking disease in that regard.”

However, recent scientific advances are beginning to break new ground. They include a first-of-its-kind therapy that uses a deactivated virus coat called a vector to smuggle a working copy of the faulty gene into the bodies of young patients.

First approved in 2019, the treatment cannot reverse nerve and muscle damage, but it can prevent further damage. That means there is only a short period of time for use as the condition it treats often shows no symptoms for months after birth.

Ollie was also the first child in the state to receive the gene therapy, which he started when he was less than a month old. He responded so well, Arya said, that a colleague who met Ollie asked if he really had spinal muscle atrophy.

“When he appears [to have], and has such a normal strength and development that is so amazing and rewarding to see, ”said Arya, who is also the medical director of the spinal muscle atrophy clinic at Arkansas Children’s Hospital.

“We’re doing the very latest science here, here in the state. We offer state of the art treatments here in the state.”

Hurst said the experience was an ordeal: weekly blood draws from Ollie’s small hand or foot, last year’s general conditions, and that it must be “normal” for Ollie’s 3-year-old brother, Paxton.

Because the treatment is so new, some questions remain as to what Ollie’s life will be like decades from now. The youngest patients to receive the same treatment are less than 10 years old, according to Hurst.

For now, her youngest son is in bloom. Hurst said she is grateful for the tests that showed Ollie’s condition, for the family’s treatment team at Arkansas Children’s Hospital, and for God taking care of their family.

“We got so much hope, and that’s what really got us through it,” said Hurst. “There are no words for the thought of losing your child when you’ve just had it.”

National advocates say they are still working to urge every state to begin screening newborns for spinal muscle atrophy, as well as another genetic condition, Pompe disease.

Although federal regulators recommend the screenings, the “patchwork” of public health programs – largely administered by states – gets in the way. Some states mention financial and logistical challenges in setting up screenings.

The gene therapy for spinal muscle atrophy also comes with a hefty price tag, and some estimates put it at $ 2.1 million for a single dose. Pharmaceutical experts say this is one of the most expensive drugs in the world.

Paul Melmeyer, vice president of public policy and advocacy for the Chicago-based Muscular Dystrophy Association, emphasizes that screening and treatment provide cost savings compared to long-term supportive care.

Treatment offers a “ richer life, ” he said, so screenings are “ a really simple way for a state to make such a huge difference in the lives of their constituents, and their children and families, for children with the disease and their dear ones. . “

Act 58 of 2019 created the Arkansas spinal muscle atrophy screening program. In April 2020, the first babies were screened via blood tests.

The law’s lead author, State Representative Julie Mayberry, R-Hensley, said the law was inspired by the advocacy of a Conway family whose daughter was born with spinal muscle atrophy.

Without screening, Ollie’s family “would be where all these other families have been before, with test after test and doctors saying ‘I don’t know’ … and just not really knowing what’s wrong,” she said.

Arya, the UAMS physician, said universal screening remains “a dream” of all pediatric neurologists.

“[If] we catch all the kids with this particular devastating disease early in life, get the drug early in life, and don’t see any of the bad consequences – that would definitely be utopia, ”he said.

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