Skylar Swanson of Richmond Hill was not expected to live more than two years.
She turned 20 this year.
Skylar and her identical twin sister Cassie were born with the severest form of a disease called spinal muscular atrophy type 1 (SMA).
Cassie died June 9, 2006, from complications of SMA. She was 9. Skylar misses her blue-eyed sister who wore a tiara every day and says she can feel her guiding her through life.
Today, Skylar and her family are excited about a new revolutionary drug that could help people with SMA, an inherited neuromuscular disease that’s the No. 1 genetic killer of children younger than 2. There is no cure.
The first-ever FDA-approved treatment for SMA is Spinraza (formerly called nusinersen). It has been approved for all ages and all types of SMA, so Skylar eventually should be eligible to receive it, said her mother Dana Swanson.
“We have been working with insurance, doctors and hospitals trying to navigate through the process for Skylar to receive treatments,’’ Dana said.
“There are very few Type 1 individuals who have survived to the age of 20, and this makes the approval process more challenging for her. Hopefully, she will get the treatment soon.”
Spinraza can offer disease stabilization or improvement and it raises the possibility that infants with SMA could be prevented from developing weakness if identified early enough. The drug addresses the underlying genetic cause of SMA.
The promising drug that could change the course of this devastating disease comes after decades of advocacy by groups like SMA Angels Charity to fund research for a cure.
SMA Angels Charity was started in 1997 in Richmond Hill when the Swanson twins were diagnosed at the age of 5 months.
“SMA Angels Charity was founded with the hope and dream that a treatment or cure was possible,” said Skylar’s grandmother, Anne Meguiar, president of SMA Angels Charity.
“After 20 years of advocating and fundraising, we now have the first-ever treatment for SMA, Spinraza. Because of this amazing breakthrough, no parent will ever again hear ‘Your child has SMA, take them home and love them, there is nothing we can do and they will die before the age of 2.’”
On Sept. 23, SMA Angels Charity will host its 20th annual charity ball, “A Night to Celebrate,” at Savannah Marriott Riverfront. The fundraiser will consist of dinner, dancing, a live auction, live music, raffles and door prizes. Entertainment will be provided by The Sapphire Bullets of Pure Love.
“We are very grateful to a caring community who has supported us for 20 years,’’ Meguiar said. “It has been the nonprofit funding of basic research that has brought us to this milestone discovery. We are grateful to the families who never gave up and championed for their children.”
Some parents with children with SMA, like Kjersten and Sean Post at Fort Stewart, are already seeing positive results from the new drug.
Brogan Post will turn 3 this month and has been receiving Spinraza now for 16 months, said his mother.
“Since starting the medication, we are grateful to have noticed increased daily energy, respiratory stability and strength,’’ Post said. “He is also now moving his extremities and has more facial expressions, much of which had been lost prior to starting injections. Most importantly, he has not only improved some but also not declined further as typical with SMA. We pray all of those affected would be able to receive this medication quickly.”
Brittany and Jake Young’s 2-year-old son James Thomas has SMA Type 2. He’s also showing subtle signs of regaining strength after receiving Spinraza. The Youngs lived in Pooler until recently moving to Alabama.
“He was able to spoon-feed himself again and even reach higher, touching up to his cheeks,’’ Brittany said. “After his fourth dose, he was fully extending his arms above his head, which is something we hadn’t seen him do since he was an infant.”
The Youngs also noticed improvements in their son’s posture, core strength and stamina, coughing and swallowing, leg movement and arm strength.
“We are so grateful for Spinraza. It has been life-changing,’’ Brittany said. “We pray that we continue to see improvements and for the many individuals still waiting to receive it. This drug completely changed the outlook for individuals being diagnosed with SMA, which is why newborn screening for this particular disease is absolutely necessary in every state.”
Meanwhile, as Skylar waits to start Spinraza, she is hopeful it will help her.
Skylar appreciates experiences instead of things — being outdoors, going to the beach, reading (often enjoying seven or eight books at a time), theater, music and traveling, especially to the mountains where she feels closer to her sister.
Skylar continues to have a true appreciation for life and to face her challenges with unbelievable determination.
After all, Skylar’s motto is “Never Give Up.”
“This new treatment is a huge step in caring for those with SMA, but we must not stop now,’’ said Meguiar. “We will continue to work to fund crucial research for a cure, improve quality of care, provide support to local SMA families and advocate and educate for SMA.”
Contact Anne Hart at firstname.lastname@example.org. Follow her on Instagram @southernmamas.