Baby Girl with Rare Disease Needs Life-Saving Medicine that Costs $2.1M

Rhys Devine was diagnosed with spinal muscular atrophy, a disease that typically kills babies before the age of 2

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Published on June 26, 2020 05:01 PM

Two California parents are hoping to raise funds for the "most expensive drug in the world" to save the life of their daughter, who was recently diagnosed with a rare degenerative disease.

For parents Ceri and Rory Devine, things seemed to be going smoothly in the first months following the birth of their daughter, Rhys, in December 2019. But the couple noticed things were amiss when their baby girl noticeably fell behind in her development when she was 4 months old.

'That mother’s intuition was nagging me," Ceri, from Los Angeles, said on a website set up by the family. "She always struggled with tummy time, and wasn’t able to roll over or hold her head up for very long."

The couple took their daughter in for a check-up, and their pediatrician recommended physical therapy after examining Rhys' low muscle tone. But when she was reevaluated two months later, their doctor suspected Rhys had Spinal Muscular Atrophy. This rare genetic disease causes muscles to weaken throughout the body due to cellular defects in the brain stem and spinal cord.

What followed was "the longest two weeks" of the couple's lives, and after visiting numerous specialists, Rhys was officially diagnosed with SMA Type 1.

According to Boston Children's Hospital, SMA Type 1 (also known as Werdnig-Hoffmann disease) causes various symptoms in babies as their muscles waste away, such as being unable to sit without support and difficulty breathing, feeding and swallowing. There is no cure for the disease, and, tragically, many babies with SMA Type 1 die before the age of 2.

Despite the tragic news, Ceri and Rory were given some hope — doctors said there were two gene therapy treatments that could potentially improve Rhys' quality of life. But they wouldn't be easy to get.

One of the treatments, Spinraza, has shown improvement in children with SMA Type 1 and 2, according to SMA News Today. The drug — which is administered every four months through a spinal injection — costs $750,000 the first year and $375,000 every year after that for life, the parents say.

The other treatment, Zolgensma, was approved by the FDA in 2019 and is known as the "most expensive drug ever," NPR reported. It costs $2.1 million for a single dose, but the drug has shown improvement in young patients with SMA and "some patients are even able to walk independently," according to Ceri and Rory.

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"Because SMA Type 1 is aggressive and degenerative, this is a race against time," the parents wrote on the website, Rise Up for Rhys.

"With each day that passes, motor neurons in Rhys’ sweet little body are becoming inactive," they continued. "In addition to the gene therapy, Rhys will need ongoing physical therapy and support equipment based on her needs to help her develop, improve mobility, and improve her quality of life."

The family started a GoFundMe campaign to raise funds for the therapies, and have raised over $273,000 as of Friday afternoon.

"Every child should have the best possible chance at life," the couple wrote. "Please join us to surround our happy little girl in love and support."