Timing Is Everything – Emma’s Journey with Spinal Muscular Atrophy Type 1

Timing is everything, as the old saying goes. But for Emma and her family, the right timing was made possible thanks to the unparalleled generosity of Seattle Children’s donors. Emma was 8 months old when her pediatrician noticed she was missing developmental milestones and referred her parents, Erin and Mark, to a neurology appointment at Seattle Children’s Hospital.

Just a few days later, Emma’s blood test confirmed that she had spinal muscular atrophy type 1, or SMA type 1. People with SMA are missing the gene that helps your body keep motor neurons healthy. This causes weak muscles and over time, the muscles get smaller from not being used. Without treatment, most children with severe SMA die before age 2.

“Emma was just so little, she had no idea what was going on,” remembers Erin. “Neither did we, really, but after our appointment we went home, and we looked it up and it was a really tough diagnosis to wrap your head around.”

Philanthropy Transforms a “Death Sentence” Into Hope

Unbeknownst to the family, while Erin was pregnant with Emma, the FDA was busy fast-tracking a groundbreaking new drug for approval to treat SMA. Research for this treatment had been ongoing since 1995, when the gene for SMA was first discovered, and it was primarily powered by private donations from people whose loved ones were impacted by the disease.

“Before the NIH came in, before industry organizations came in, this work was funded by people who took a chance on a group of scientists who really wanted to help people with SMA,” explains Dr. Maida Lynn Chen, Emma’s pulmonary physician at the time of her diagnosis. Dr. Chen first learned of the new drug when she attended a research conference a few months prior to meeting Emma and her family. Such conferences are a place for vital — and often lifesaving — information sharing in the scientific community. When Emma’s diagnosis was confirmed, Dr. Chen knew exactly what the next steps needed to be for her treatment. “That drug completely changed the outlook of SMA. What had been a death sentence now suddenly had a possibility of hope.”

Five days after diagnosis, in the notes of Emma’s medical chart, one of her providers wrote, “Time is of the essence. We cannot wait for insurance clearance. If there is a financial consideration that the family has because these therapies may be very expensive, Seattle Children’s Hospital as an organization and as a faculty and staff are committed to making sure that any financial considerations do not stand in the way of this child getting appropriate medical care.”

Emma received her first dose of this new treatment when she was 8 months old; one of the very first kids at Seattle Children’s to receive the groundbreaking drug. For the first time in history, there was a treatment option for children diagnosed with SMA, rather than going into palliative care. But cutting-edge therapy is not cheap.

Donor Support Makes Lifesaving Care Accessible

A nurse encouraged Erin to apply for Seattle Children’s financial assistance program, which is the most generous of any pediatric hospital in the Pacific Northwest. The application is designed to be simple and accessible, and Erin was approved shortly after applying. Though Emma’s parents had insurance, uncompensated care has been vital in paying for portions or procedures not covered by insurance. “We have new medications, new devices, new treatments, and the research occurring both at Seattle Children’s Research Institute and other pediatric hospitals is groundbreaking for many kids. It’s also very expensive,” explains Suzanne Vanderwerff, vice president of Revenue Cycle and Health Information Integrity. “We cannot wait. We need to provide the care to kids now, and there is a growing need for financial assistance to help cover that new technology, that new treatment, so that children can be treated instead of waiting until insurance companies see the benefits of these new treatments and start to cover it under their policies.”

“It’s an incredible safety net, knowing you don’t have to worry about your kid receiving care or not based on your ability to afford it,” says Erin. “Uncompensated care has been huge for us.”

Now in third grade, Emma is thriving. She is able to navigate life in a wheelchair and loves to read chapter books, write stories and draw. Her classmates know they can count on her to be one of the first to cheer them on. She has big plans for her future — including growing up and becoming a scientist with twins and a husband who stays home to take care of them.

“Emma was always cute and adorable, but over time with this treatment her body was able to catch up to her personality,” says Dr. Chen. “It is a privilege to see.”