Spinal Muscular Atrophy (SMA) was one of the conditions highlighted during the Color Run on Saturday, September 29th. Kristen Stevens, CBHA Director of Health and Wellness, served as director of the event. She worked with the Pacific NW Cure SMA Chapter who directed her to Crystal and Noe Ramos, parents of twin boys who have SMA ll. The family lives in Kennewick, Washington.

Kristen called and invited them to the Color Run. The state SMA Foundation had also contacted Crystal and asked her to attend and set up an information table about the rare condition.

Meet five-year-old Harper Ramos and his mom, Crystal. Twin brother Hendrix could not attend because he wasn’t feeling well (something he wasn’t very happy about!).

“We all had a great time. My parents came with Harper and me,” Crystal said. “Everyone was so nice to us, welcomed us and were very careful not to get the powdered color in Harper’s face.”

During the Color Run, Harper and his mom met CBHA Chief Executive Officer Nieves Gomez for the first time. They share a common history; Nieves and his wife, Valerie, lost their six month old son, Liam, to SMA in March, 2013. Harper and his twin Hendrix were diagnosed with SMA Type II in the summer of 2015.

Like little Liam, the twin boys met all their benchmarks at birth and progressed normally for a time. However, their parents, Crystal and Noe, became increasingly concerned when they weren’t bearing any weight on their feet at 8 months old. Hendrix still wasn’t crawling at 15 months and Harper had lost his ability to crawl with just his arms. The twins were referred to Seattle Children’s Hospital. Harper was diagnosed with SMA Type ll on June 24, 2015; Hendrix received the same diagnosis exactly one month later.

“After crying for several weeks,” Crystal said, “we settled down and vowed to do everything we could to help them. We took them to occupational and physical therapy sessions that did little to combat the progression of the disease. Eventually they were weakened to the extent that they needed a cough assist machine to clear congestion in their lungs.”

Crystal and Noe were aware that drug trials featuring a medication called nusinersen were being conducted at Seattle Children’s, but their twins were too old to participate in the trials. The results were very promising, including advances previously not seen, including helping children walk.

The twins were three by the time they began taking the drug, which didn’t gain FDA approval until December of 2016. Crystal remembers sitting on the couch after getting the news of the drug’s approval on Christmas Day. “We sat there laughing and crying. It was really a special moment.” The twins have been improving ever since.

“Harper and Hendrix go to Kindergarten full-time. It’s a busy schedule,” Ramos said. “School daily and physical therapy weekly. They practice their wheelchair stamina in the gym. They are doing well. However, they are also very susceptible to colds and respiratory issues. They have BiPAP machines at night and a type of machine that vibrates and helps break up mucus before it builds up in their lungs. They have been much healthier ever since they began treatment with the Spinraza (drug was renamed at the time it gained FDA approval) and have the machines at home to help care for them.”

Ramos says the smaller of the boys, Hendrix, was frequently in the hospital before these treatments were available to them. Now, as soon as the parents notice a cough developing, they get them on the machines.

The Ramos family considers themselves very fortunate in that the boys’ father is able to be home full-time. They have an older son, Santana, as well. Crystal works full-time for the Kennewick School District as a bi-lingual literacy coach.

She said it is almost a full-time job to navigate insurance issues and get the boys the equipment they need. “Right now we are working on acquiring car seats,” Ramos said. “We’ve already gotten two that had to be returned. The twins are too small for booster seats. Insurance only pays for certain kinds. It will take two or three months before we get the right ones. We really have to advocate for them!”

Both parents advocate for newborn screening to detect if the infant is lacking or only possessing small amounts of the protein SMN2. If so, the drug Spinraza can be given at just five days old to prevent symptoms from developing. It is their hope that the State of Washington will soon make screening for SMN 2 mandatory for all newborns.

The Cost of Hope

There was a time when the Ramos family had almost given up hope to finding help for their boys. Hope came in the form of the new drug Spinraza. It also came with a huge price tag. Dr. Susan Apkon is director of rehabilitation medicine at Children’s Hospital in Seattle. She worked with the Ramos family in overseeing Harper and Hendrix’s treatment.

Six doses of the drug are required for the first year of treatment, costing about $750,000, followed by four doses each year thereafter. With twins, the cost was doubled for the Ramos’ family. Their private insurance covered a sizable portion of treatment but still left the family agonizing over the reality that they might not be able to afford the treatment.

Dr. Apkon discussed SMA and the benefits of the new treatment at the state capital in Olympia during Spinraza’s formal drug review process and Medicaid policy presentation. Medicaid did agree to cover the cost and the Ramos twins are benefiting from the life changing treatment. However, future funding for the 30 million children in the country who rely on Medicaid remains in jeopardy.