Spinal Muscular Atrophy Awareness Month

During a family vacation in 2012, John and Eliza Harting began to think there was something wrong with their new baby, Zoe. In the weeks prior, her muscles appeared to be weakening. And now, as they watched her next to her cousin, who was born just one week apart from Zoe, it was clear Zoe was not developing at the same rate.

A few weeks later, a diagnosis confirmed their fear. Zoe had spinal muscular atrophy type 1, or SMA-1, a deadly neuromuscular disease that affects approximately 1 in 10,000 babies. Typically, children diagnosed with SMA-1 die before their second birthday. By the time she was 6 months old, Zoe was unable to move her lower extremities, other than slight function in her toes. She also could not move her arms above the elbows, and her breathing was beginning to weaken.

The Mercury News recently shared Zoe’s story, explaining:

Without effective treatment, Zoe’s muscles would progressively weaken, taking away her ability to walk, eat and, ultimately, breathe.

Zoe came to Lucile Packard Children’s Hospital Stanford when she was 6 months old, and a month later she became the first baby in the world to receive an experimental drug called nusinersen, which changed the course of her life. “We weren’t sure if it would slow her rate of decline, if it would stabilize her or if she would gain any function that she’d already lost,” explained John Day, MD, PhD, director of the Neuromuscular Disorders Clinic at Packard Children’s. “It was basically a year later that I was completely convinced that the drug was having an effect.”

The article explains:

Patients with SMA don’t produce enough of a protein called survival motor neuron, or SMN, which helps send signals from the spinal cord to muscles. When the muscles don’t get the signals, they atrophy. Patients with SMA are missing the main gene, SMN1, that produces the protein. Patients have a second gene, SMN2, that also can produce the protein, but it only makes 5 to 10 percent of the amount needed. The new drug works by acting like a patch to cover up the flawed portion of the SMN2 gene, which then spurs production of the protein.

It has been about three years since Zoe’s first dose of nusinersen, which is administered through an injection into the spinal fluid. Today, she continues to receive the treatment every four months, and Dr. Day tells the Mercury News, “She can talk, she can move her legs and arms, she even yells at me now. She has personality. She can throw a beach ball around. She’s going to have a life.”

The Harting family is sharing their story this month as part of SMA Awareness Month. As written in the Mercury News, “They want families to know the importance of early detection and that there is treatment. About one in 50 parents are carriers of the recessive gene disorder.”

Dr. Day echoes the importance of raising awareness of SMA:

There’s minimal awareness of the genetic disease — largely because many patients die so young — and pediatricians may not have updated information that treatment is available. But he explains, “If we see them early enough, before they see any symptoms, the child may not see any muscular impact.” Day is an advocate for newborn genetic screening so SMA is identified at birth and treatment can begin before the child shows signs of the disease.

The drug that Zoe has been treated with as part of Dr. Day’s clinical trials was approved by the FDA in December 2016 as the first treatment for SMA in adult and pediatric patients. “Having worked with the SMA community for more than 30 years, I’ve dealt with a lot of loss for individuals and families dealing with this disease. I have to say that this was a very meaningful time for those of us involved in this study to finally be able to say, ‘Yes you have a child with SMA, but now we have a treatment,’” Day said.

Read previous coverage of Zoe’s story: Stanford patient was first to receive lifesaving drug as an infant