Day by day, a baby girl from Akron is hitting new milestones, charming her adoring parents, and learning more about the world around her.
But, if you passed her in her stroller, you would have no hint of the devastating diagnosis her parents received within her first week of life. Ultimately, a trifecta of modern medical miracles – a newborn screening program, a life-changing new therapy, and a team of fast-acting Akron Children’s doctors – delivered hope for a healthy future.
Shanaya has benefitted from a newborn screen, a new gene therapy and a team of dedicated Akron Children’s specialists.
Shanaya Bothenna was born in February, a first child with no complications or concerns until a phone call a few days after birth.
In the call, the pediatrician told her mother that Shanaya had tested positive for spinal muscular atrophy (SMA) on a newborn screening panel.
SMA is a serious, life-altering genetic condition. The doctor said the baby would quickly need a genetic test to confirm the diagnosis.
“After that call, I did what most parents would probably do,” said her mother (who prefers not to share her name). “I Googled ‘SMA’ and learned it is like a muscular dystrophy and saw it was a fatal disease. I was upset. I remember my husband was out for groceries, so when he came back, I told him about the call and we both went back to Google. It was so hard to accept. ‘Can this be true?’ we thought. We didn’t believe it at first.”
Shanaya with her parents with Akron Children’s Pediatric Neuromuscular Clinic team. Note: this photo was taken prior to COVID-19.
Within a few days, the family met with Drs. Kathryn Mosher, a pediatric physiatrist; Ian Rossman and Matthew Ginsberg, pediatric neurologists; and Catherine Ward-Melver, a medical geneticist. The genetic test confirmed the results of the newborn screen. Shanaya had type 1 SMA, the most serious form that often leads to children being mechanically dependent to breathe by age 2.
While this was terrible news, the doctors had good news, too. A new gene therapy, Zolgensma, had been FDA approved in 2019 for children younger than age 2. The latest clinical findings showed that children who received a single IV infusion of the drug after birth continued to achieve developmental milestones and show improvements in motor function.
“Another bit of not-so-great news was the cost of the drug – $2 million for one dose – but the doctors said they would do everything in their power to make sure Shanaya qualified for insurance coverage – and they did,” said her mother.
Baby Shanaya has been growing and developing new skills since receiving her gene therapy in March.
The single infusion was administered at Akron Children’s on March 18 – less than a month after Shanaya’s birth.
“The timing was critical,” said Dr. Rossman. “You want to begin this treatment as early as possible, because we have seen babies with SMA who can’t move by 6 months of age.”
Dr. Rossman went on to praise the role of routine newborn screening in catching dozens of serious conditions that are best treated as early as possible.
Ohio has been screening newborns since 1965. Initially, screening was done for only one condition, phenylketonuria also called PKU. Over the years, dozens of additional conditions have been added to the Ohio newborn screening panel, and just a few drops of blood taken from the newborn’s heel are needed to screen for all of them.
“SMA occurs when both parents carry the recessive trait,” said Dr. Ward-Melver. “Recessive gene disorders can pop up without a lot of warning in the family history. We’re all carriers for a lot of potentially significant disorders.”
SMA affects the central and peripheral nervous systems, and voluntary muscle movement. It is caused by inadequate production of a protein called survival motor neuron (SMN).
SMN is produced by the SMN1 and to a lesser extent by SMN2 genes on chromosome 5. Typically, people have two copies of the SMN1 gene and up to two copies of the SMN2 gene in each of their motor neuron cells. In people with SMA, both copies of the SMN1 gene are altered or missing.
Zolgensma targets the genetic root cause of SMA by replacing the function of the missing or nonworking SMN1 gene.
Before the new crop of therapies to treat it, parents had no options but to watch their babies decline in function. Initially, they may notice floppy limbs, advancing onto weak trunk movement. Over time, SMA would affect their ability to feed, swallow and eventually hold up their heads and breathe.
For Shanaya’s parents, it’s been a whirlwind of a first year: from never hearing the letters “SMA” to learning everything they could about it, and from not realizing their baby was anything but perfectly healthy to having doctors point out that subtle red flags in her mobility.
After more time on the Internet researching everything they could about Zolgensma and how the first babies to receive it were doing, they were eager get the infusion scheduled.
“I remember it was a week or two after the infusion, we were noticing she was moving her arms much more and trying to lift her legs,” said Shanaya’s mother. “Day by day, we noticed improvement in her movements.”
In mid May, Dr. Ward-Melver remembers receiving a message from Dr. Rossman inviting her to join a telehealth appointment with Shanaya.
“’You’ve got to see this,’” Dr. Ward-Melver recalled Dr Rossman excitedly saying, “and there we were watching her moving around. And a few weeks ago, she was sitting up. We were all so thrilled.”
Shanaya will continue to receive physical and occupational therapy from Akron Children’s and will continue to be followed by Drs. Mosher and Rossman. She sees Dr. Reinaldo Garcia-Naviero once a month. The family also appreciates the support they receive from Help Me Grow, the early intervention program from the Ohio Department of Health, which provides in-home therapy.
Occupational therapist Nicole Miller works with Shanaya to strengthen her core, shoulders and neck.
Her mother says they will be forever indebted to the physicians at Akron Children’s, who moved so quickly to get her baby girl a life-saving medicine within weeks, and when early intervention is critical.
“Those doctors are like God for us,” said Shanaya’s mother. “We will be forever grateful to them, as well as the nurses and social worker – the entire team of the Pediatric Neuromuscular Clinic. And we also wouldn’t be here without the CureSMA group and all of those researchers who have been trying to find the best drugs like Zolgensma for this disease. This is an example of science being used for the betterment of human life.”
Shanaya – all smiles here – has a bright, healthy future ahead of her.
