Thanks to new drug, Laconia toddler successfully battling 'baby version' of Lou Gehrig's disease
By JOHN KOZIOL Union Leader Correspondent
Sofia is looking forward to a Make-A-Wish trip to Walt Disney World soon. (JOHN KOZIOL/UNION LEADER CORRESPONDENT)
LACONIA -- Although she still has a very long way to go, Sofia Wylie is a trailblazer in the treatment of spinal muscular atrophy, the leading genetic cause of infant deaths.
The daughter of Natalia and Jason Wylie, Sofia is a bright, energetic 3-year-old who smiles easily and often and who loves puttering around, singing, playing with her dog, Max, and “cooking” in her toy kitchen.
In between spurts of activity, Sofia will pause and tell her parents “I need a suck,” a request to vacuum mucus out of her nose or throat. That, and Sofia’s wheelchair — she can stand and walk by holding onto things — are the signs that the toddler is battling Type I SMA, the most virulent form of the disease.
SMA, according to CureSMA.org, affects approximately 1 in 10,000 babies in the U.S. and is sometimes called “a baby version” of amyotrophic lateral sclerosis (ALS), which is also known as Lou Gehrig’s Disease. It is caused by a mutation in the survival motor neuron gene 1, which regulates muscles required for locomotion, digestion and respiration.
The muscles of an infant with SMA are so weak that he or she cannot hold their head up or even vocalize a cry. Many will eventually need to be placed on a ventilator, and typically live 13 to 23 months.
When Sofia was diagnosed with SMA, Natalia Wylie immediately reached out to Boston Children’s Hospital; two weeks later, the family was meeting with a team of SMA experts there led by Dr. Basil Darras.
At the age of four months, Sofia was enrolled in a blind clinical trial being conducted by Darras for the drug Spinraza.
After Sofia received the third dose of the drug, her parents suspected that she was getting the medication, not the placebo. This May, Biogen Pharmaceuticals confirmed that Sofia had, indeed, been getting the drug during the 13-month clinical trial.
Robert Graham, a doctor in the Critical Care Medicine division at Children’s Hospital, said Spinraza is working for Sofia.
“From a provider standpoint, as a physician and clinical researcher and just a human being, we have not seen things like this in what is truly a fatal condition,” Graham said. “This is phenomenal. It’s life-extending, and everybody is thrilled.”
In what Natalia Wylie described as an early Christmas gift for Sofia and other children with SMA1, the Food and Drug Administration approved Spinraza as the first drug for the treatment of SMA on Dec. 23, 2016.
A 2002 graduate of Gilford High School, Natalia met Jason, a 1996 graduate of Laconia High School, at Irwin Marine, where he had worked as a technician and she as a boat detailer.
The pair married and had a daughter, Samantha, who is now a third-grader at Elm Street School in Lakeport. Jason returned to Irwin Marine in 2013 as a sales associate.
When she was 35 weeks pregnant with Sofia, Natalia passed her nursing boards to become a registered nurse, but when Sofia was diagnosed with SMA, Natalia put job interviews on hold.
“In the beginning, I used to cry a lot,” said Natalia. But along with the tears came a determination to get her daughter the care she needed.
Natalia said that Sofia is “kind of paving the road” to the future treatment for SMA Type I.
Dr. Graham said the drug “is not a cure, per se.” Sofia still has some deficits in swallowing and mobility, he said, “and I’m still concerned about her respiratory reserve when she gets ill.”
He added: “She may have a normal lifespan or at least a significantly increased lifespan without so much support needed.”
One day, Jason Wylie said, he hopes to walk Sofia down the aisle at her wedding. For the immediate future, he and his family are getting ready for an SMA “Hike for the Cure” scheduled for Sept. 9 at Gunstock Mountain Resort and in November, a Make-A-Wish trip to Disney World.
Natalia Wylie believes Spinraza has saved her daughter’s life.
“She’s here today because she started the medicine when she did,” she said.