Hope for Kaeli

CHKD Patient Among First in the Nation to Receive New Gene Therapy

When Kaeli Price was born in March, she was the picture of health. She weighed nearly 7 pounds, had chubby cheeks, and clear blue eyes. Looking back, though, her mother, Kelli Price, remembers a detail that signaled a devastating truth buried in her DNA.

She had a soft cry, like a kitten.

At her one-month checkup, a pediatrician noted her arms and legs were a little limp.

The doctor told Kelli and her husband, Brandon Price, it would probably turn out to be nothing, but he wanted to send their daughter to a neurology specialist. Kaeli was eventually referred to Dr. Crystal Proud, a pediatric neuromuscular neurologist at Children’s Hospital of The King’s Daughters.

As soon as Dr. Proud heard the symptoms, she asked the family to come to her office. That day.

The signs that seemed so innocent led Dr. Proud to test Kaeli for spinal muscular atrophy (SMA), the top genetic killer of babies worldwide. Nerve cells in the brain stem and spinal cord that control muscles are destroyed over time because a critical protein is missing.

As the disease progresses, children lose the ability to walk, eat, or even breathe. Children with severe types of SMA eventually need ventilators and often die by the age of 2. That was the type that Dr. Proud diagnosed Kaeli with, and the news was devastating to the Prices, who live in Belvidere, N.C. How would they tell their 2-year-old daughter, Bella?

“We were overwhelmed,” Kelli remembers. “Honestly, we didn’t know what to think.”

The timing of Kaeli’s diagnosis, though, worked in the baby’s favor.

The week after her parents learned she had SMA, the Food and Drug Administration approved a gene therapy treatment called Zolgensma to treat SMA in children under 2.

The drug — the first gene therapy drug for a neuromuscular disease — uses a virus to provide a normal copy of a gene that is missing or mutated in children with SMA. The replaced gene allows production of a critical protein needed for motor neuron development. Children who received the drug in clinical trials did so well reaching milestones, like sitting up and crawling, the FDA fast-tracked approval.

Zolgensma is only the second treatment made available for SMA. The first was Spinraza, approved by the FDA in 2016, which Dr. Proud had started Kaeli on immediately. Spinraza allows a backup gene to produce the missing protein.

Here’s the difference: Spinraza needs to be given on an ongoing basis, through injections in the fluid around the spinal cord, but Zolgensma is a single treatment.

Zolgensma set a price record for a one-time treatment at $2.1 million. Dr. Proud filed the documents to see if the Prices’ insurance would cover it. The insurance company agreed, but with a condition: If Kaeli received the Zolgensma, she’d have to stop the Spinraza.

With both drugs, time is of the essence, because every day without the protein was another day of lost motor neurons.

“We prayed a lot,” Kelli said, “In the end, the decision wasn’t that hard. We felt God gave us peace with the decision.”

They chose Zolgensma.

Kaeli would soon be the first child in the state of Virginia to receive the newly approved drug, and among the first in the country.

Spinal muscular atrophy is a rare, progressive disease that affects one in every 10,000 births. When Dr. Proud chose her specialty of pediatric neuromuscular neurology, she says some of her friends questioned her decision, knowing she’d have to care for children with SMA along with other heartbreaking diseases like Duchenne muscular dystrophy.

Before Spinraza and Zolgensma, there was no treatment for SMA. Dr. Proud’s job was to help the children live life to the fullest, support their families, and ensure children with the most severe forms passed away with grace and comfort.

But Dr. Proud entered the field at a transformative time. When she was in her fellowship training at Stanford University, clinical trials of Spinraza were underway there. By the time the FDA approved it, Dr. Proud was practicing at CHKD. Three months later, Dr. Proud administered Spinraza to her first patient, and she’s now giving it to more than 30 patients who come from all over Virginia and North Carolina.

Jackson Saville, of Virginia Beach, was one of her first Spinraza patients. His mother, Stacy Saville, said the Spinraza is helping him maintain and gain muscle instead of losing it.

Jackson, 10, still uses a wheelchair, but he doesn’t need a ventilator to breathe through the night. He can turn pages in a book, something he had struggled with before Spinraza. And best of all, his head doesn’t drop down. The Saville’s first daughter, Morgan, died of SMA at 3 years of age after her head dropped down to her chest, and she stopped breathing.

Seeing Jackson’s head drop used to fill Stacy with anxiety. “It was this incredible fear, and now it’s gone. I don’t even know when it happened, but his head hasn’t dropped in so long I am finally comfortable saying it.”

Jackson and Kaeli are two of more than 40 patients who come to CHKD’s Spinal Muscular Atrophy Center from several states. The center has specialists to treat the spectrum of needs caused by the disorder: respiratory therapists, rehabilitation specialists, physical and occupational therapists, genetic counselors, social workers, an educational liaison, and a neuromuscular dietitian.

On June 20, Kaeli was resting peacefully in her mother’s arms at CHKD, ready to receive her infusion of Zolgensma.

“Hey baby girl, are you ready for your medicine?” Dr. Proud said.

For something so monumental, there’s little drama, as the clear liquid trickled through the tube into Kaeli’s blood vessels. In an hour, it’s over, and by late afternoon, Kaeli and her parents are on the road back to North Carolina.

For neuromuscular specialists like Dr. Proud, this is a time of excitement, but also uncertainty as they explore a new frontier. Will the impact of the drugs differ from child to child? Will survivors need adaptive devices to walk? Will the drugs work better alone or in combination?

New treatment protocols need to be developed as children survive longer. “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,” Dr. Proud said.

With two SMA drugs on the market now, awareness of early symptoms is critical to identify children as soon as possible: low muscle tone, weakness, breathing problems, spontaneous tongue movement, trouble swallowing, and failure to meet milestones like sitting, crawling, and walking. Dr. Proud was on a statewide steering committee that recommended newborn screening in Virginia, which is expected to begin next year.

Kelli and Brandon are thankful Kaeli wasn’t born until treatment was available.

“We know that this was all God’s doing, that he gave us Bella first and Kaeli second,” Kelli said.

With the medication, Kaeli is improving. That kitten cry? It’s much louder now. She’s holding her head up. She’s kicking her legs. She’s holding toys.

“When I first started in the world of neuromuscular disease, we didn’t have any lifesaving treatments for children with these conditions,” Dr. Proud says. “But now there’s a new hope, a new optimism we never had before.”

At a follow-up visit, Dr. Proud tested Kaeli’s reflexes and listened to her heartbeat. Suddenly Kaeli started crying, tired of the poking and prodding.

“For most babies, a cry signals fussiness,” Dr. Proud said. “With Kaeli, it means victory. That’s a cry we like to hear. It means she’s getting stronger.”

May 20, 2021, Update: Kaeli celebrated her second birthday in March and she is growing and thriving. With the help of doctors and therapists and other health professionals, both at CHKD and in her home state of North Carolina, Kaeli is learning to sit up on her own, do puzzles, feed herself, propel herself in a wheelchair, and even stand and take steps with the help of her parents. 

Watch Kaeli's Story 

Learn more about Spinal Muscular Atrophy Center at CHKD here. This story appeared in the Fall 2019 edition of Kidstuff magazine, a quarterly publication from CHKD that features inspiring stories about patients, families, physicians and friends of CHKD.