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.