Can you describe the events/symptoms that led to Jase’s SMA diagnosis?
Our journey with spinal muscular atrophy (SMA) began before Jase was born. We had a daughter, Ariel, who passed away from SMA at 16 months old, a little over a year before Jase was born. We also have three other children who are not affected by SMA.
Ariel was six months old when she was diagnosed and she was given a life expectancy of one to two years. At the time, there was a lot of excitement around research in SMA, but potential treatment options were still early in the development phase and not available to us.
I had a normal pregnancy with Jase and he looked perfectly healthy at birth. But we knew we wanted to get him tested for SMA immediately. The doctors used blood from his umbilical cord to do genetic testing. When Jase was just eight days old, we learned that he had the same type of SMA as Ariel (SMA Type 1). We were devastated. We grieved it, processed it and then we initially prepared our hearts to go through a similar journey with Jase as we did with Ariel.
What is your understanding of SMA?
As a result of having two children affected by the disease, we have learned more about SMA within the past eight years than we ever had known. SMA is a rare, genetic disease that affects one in 10,000 births. It is a leading genetic cause of death in babies, but no treatments were available until just a few years ago.
Our two children had such different experiences with SMA. With Ariel, there were no medications available. Our time with Ariel was very precious but also painful as we watched the disease, in its natural progression, take the life of our child.
Jase was fortunate to receive Spinraza (nusinersen), the first treatment approved for SMA, as part of a clinical trial when he was just 18 days old.
Had you heard of the condition before Jase’s diagnosis?
Given our experience with our daughter Ariel, we knew SMA was a factor in our family and that Jase might be affected by the disease as well. But even before Ariel, we had heard of SMA which was slowly becoming more and more personal.
My aunt and uncle lost two children to SMA type 1 in the early 1980s. (At the time it was known as Werdnig Hoffmann Disease.) I was aware that SMA was a genetic condition and that I could potentially be a carrier, but it felt like a distant, unlikely possibility. Then, in 2011, a little over a year before Ariel was born, my brother and his wife had a son who showed symptoms of weakness at birth, was diagnosed with SMA Type 1 within a few weeks of birth, and passed away at four months of age.
Then Ariel was born – presenting completely healthy. Looking back, I can identify things within the first month of her life that signalled SMA. At the time they were vague concerns about her wellbeing, hard to pin-point, exactly. And I didn’t want to worry or alarm my family with wonderings about her strength. There was probably some denial also at play…It seemed inconceivable that we, too, were both carriers and holding yet another baby affected with this supposedly rare genetic disease. So I suppose our experience with SMA was rather storied by the time Jase arrived.
What have you been told about Jase’s prognosis?
We felt devastated when we first learned that Jase had SMA Type 1. We went back to the neurologist who had cared for Ariel, and braced ourselves to discuss supportive and hospice care for Jase. This time, the neurologist excitedly told us about a clinical trial that was starting to assess a potential new treatment for SMA and how he thought Jase would be a good candidate. He arranged for Jase to enrol in the NURTURE study and Jase received his first dose of Spinraza at 18 days old.
It was a whirlwind for us and a little overwhelming. We didn’t know what to expect and there were a lot of unknowns. (There still are!) But the doctors in the NURTURE study were optimistic that if they could treat babies born with SMA before any symptoms were present, it could halt the disease progression.
What does a typical day caring for Jase involve?
Honestly, for the most part, Jase is just like my other three boys. He turned five in July and he’s doing great! He can ride his bike, run and even jump on the trampoline. He does archery with his brothers and has his own bow and arrow. He started kindergarten this fall. It’s incredible that he can do these things.
Jase isn’t quite as strong as his peer group (although he doesn’t believe that!). He uses one medical device – a vest that essentially does physical therapy for the chest – that he wears for 20 minutes twice a day to help keep his lungs clear. He is a good sport and has a very cheerful personality. He goes to physical therapy and has learned a lot from his therapist. But our everyday life really doesn’t look like a family with SMA.
What treatment has he had?
Jase has been on Spinraza continuously for five years. This has given Jase a chance to thrive and meet milestones that were never expected before with SMA – like sitting on his own, crawling, learning to walk, and now running and jumping.
What would you say is the greatest challenge or frustration of living with the condition?
While there’s been many developments in SMA treatment in the past few years, we’re still a little bit in uncharted territory. As a five-year-old with SMA Type 1, Jase is an anomaly. Before treatments were available, children born with SMA Type 1 usually passed away before their second birthday – like our Ariel did. Sometimes I feel anxious about it and wonder, will the treatment work forever? Will his body be able to maintain its strength? There are no guarantees and there is no precedent for what his future looks like. But we have a great relationship with Jase’s doctor and we trust him to make decisions that are in the best interest of Jase.
What advice would you give other families or patients in the same situation?
To enjoy life. All of life is precious. With our daughter who we lost at 16 months old, and with our son who we have the privilege of raising, they’re both such gifts to us. One thing that helps me maintain my peace is being willing to roll with the ups and downs, the very real vulnerabilities of life. I’m not alone in that. None of us have any guarantees. SMA is not the thing that identifies who Jase is and what his life is going to be. I often will even purposely write it in lowercase: sma. Small rebellion. 🙂 I would encourage people to recognise that SMA is not the ‘end all’ and this whole experience with our children has been a journey of faith.
What is your greatest hope for the future?
For Jase…. His name means “a healing, a healer.” Amen. May it be so.
