NORFOLK, Va. - Kaeli Price’s piercing cry is a joyful noise to her mom and dad.
“She'll be screaming right in your face and all we can think is that we're just so thankful that we can hear her now,” said Kelli Price, Kaeli’s mother.
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 Dr. Crystal Proud, a pediatric neurologist at Children’s Hospital of The King’s Daughters. The doctor specializes in Spinal Muscular Atrophy. It’s the top genetic killer of infants.
“The babies that were diagnosed with this disorder passed away from losing the ability to breathe because those muscles became so weak,” explained Dr. 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 two. 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 Mrs. 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.
Dr. 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.