Extended coverage: North Carolina baby saved by $2 million treatment

Posted at 8:00 AM, Sep 28, 2019
and last updated 2019-09-28 08:00:59-04

NORFOLK, Va. - A new gene therapy drug priced at $2 million is saving a North Carolina baby's life.

"We`re just so thankful," said Kelli Price, Kaeli Price's mother.

The Price family's insurance company covered the cost of the gene therapy drug Zolgensma not long after the baby was diagnosed with Spinal Muscular Atrophy (SMA), a rare and deadly genetic disorder.

"It's a motor nerves disease that impacts all of the muscles throughout the body," explained SMA expert and CHKD pediatric neurologist Dr. Crystal Proud. "Those motor nerves deteriorate over the lifetime of the patient, and unfortunately that means every muscle in the body is impacted, leading to weakness of the arms and legs."

"I usually cried every time I gave the diagnosis and the family did as well," Dr. Proud explained. "We all mourned what we knew would be a loss in the future."

Proud said thanks to the approval of drugs like Spinraza, and most recently Zolgensma, she is able to give families a dose of hope.

"I have been able to see new hope and improving optimism for this group of wonderfully special patients," Proud said.

When Kaeli was born in March, you could barely hear her cry and more signs signaled something wasn't right.

"We started noticing she wasn't holding her head up like some babies would normally do," said her mother.  "So we started to worry a little bit."

Their pediatrician in Belvidere, North Carolina, began to worry, too.  He sent them to see Proud.

“The babies that were diagnosed with this disorder passed away from losing the ability to breathe because those muscles became so weak,” explained Proud.

The doctor said the source of the disorder is a missing or mutated gene which keeps the babies' muscles from developing. Most diagnosed with SMA die by the age of 2.

Ten babies a year are diagnosed with the deadly condition in Virginia. At just eight weeks old, testing confirmed Kaeli Price was one of them.

“We were overwhelmed,” said Kaeli's mother.

“We felt powerless,” said Brandon Price, Kaeli's father.

Dr. Proud started Kaeli on a drug called Spinraza, which has shown promise in babies with SMA since it was approved by the FDA in 2016. It requires an injection into their tiny bodies every four months for the rest of their lives.

Not long after Kaeli’s initial treatment on Spinraza, a newly approved gene therapy drug called Zolgensma hit the market. It would essentially give Kaeli’s body the missing gene, and it would only require one dose. However, the drug came with a price tag of $2.1 million.

The Price family’s insurance covered it, allowing Kaeli to be the first baby in Virginia to be treated with Zolgensma under FDA approval.

“I can't even describe how thankful we are,” said Kelli Price.

“I hope and I expect that she will sit, stand, and walk. She will go through school and just excel,” said Dr. Proud. “And at some point well down the road she will have her own family that she can tell the story to.”

Zolgensma has come under scrutiny because of its multi-million dollar price tag.

Dr. Proud, who was part of the clinical trials for the gene therapy drug, said it is actually cost-effective when you weigh the billions of dollars it takes for clinical trials and the medical bills a child would incur without the drug.

"These children would be in and out of the ICU for weeks if not months at a time. Several of them would [need] breathing tubes and live on ventilators," said Proud.  "They would have feeding tubes. They would have a multitude of complications that would be quite expensive. So if we can treat this upfront with a medication that can reduce or even eliminate some of those interventions, it’s actually a cost savings in the long run."

Proud said beginning this year, all newborns in Virginia will be tested for SMA. The earlier doctors can intervene, preferably within the first few weeks of life, the better their chances for treatment.