ALLENDALE, Mich — A family in the Allendale area received two rounds of unexpected news, after both of their kids were diagnosed with Spinal Muscular Atrophy.
February 28 marks Rare Disease Day, and the family is sharing their story to help bring awareness to the condition.
SMA is a rare and genetic neuromuscular disease that affects the central nervous system, peripheral nervous system and voluntary muscle movement.
According to the Muscular Dystrophy Association, the earlier symptoms begin; the greater the impact on someone's motor function.
SMA is classified into five types, based on when the symptoms begin, which can be before birth with Type 0, or into adulthood with Type 4.
Most cases fall under Type 1, are the most severe, and appear within the first six months of a child’s life.
In Ottawa County, the Holtvluwer family learned first-hand about SMA, after their daughter, Sienna was diagnosed with Type 1 of the disease.
“Sienna had, we noticed from early on actually, she had a very weak cry, [a] very quiet cry. We thought we were kind of lucky that, you know, she wasn't very loud when she cried,” said mom, Emily Holtvluwer.
But after a scare when Sienna was about four months old and had trouble breathing, they took her to the hospital where they learned she had SMA.
“[They] told us ‘well, you're going to take her home and you're going to love her.’ And then as soon as they left, of course, we jumped on our phones, Google pulled up what is Spinal Muscular Atrophy and they gave us kids lived to be 18 months old for the type one she was,” said dad Shayn Holtvluwer. “We got lucky and had somebody from the SMA community come up to the hospital. She talked with us and said it's not a death sentence.”
When she was about 17 months old, Sienna underwent gene therapy with the drug, Zolgensma. Her treatment came just months before her younger brother, Wesley was born. He also had SMA Type 1, however, his parents knew his diagnosis ahead of time thanks to genetic testing.
“So with Wesley it was really hard still getting a call from the geneticists saying he had SMA, it was still just as heartbreaking,” said Emily. “But we knew that we would get treatment early and we wouldn't, you know, go through the same things as Sienna.”
Wesley ended up getting his treatment with Zolgensma at just 10 days old, before any symptoms of the disease showed.
The timetable and lack of symptoms was a major difference between him and his sister.
“He currently has no, you know, visible symptoms of SMA, he eats orally, and he requires no breathing assistance. And, you know, walking crawling around,” said Emily. “We've seen a lot of improvement and both of the kids began as you know, Sienna started school and she is able to sit unassisted by herself, she does require a GJ tube for nutrition and she requires a BiPAP at night for sleeping and, you know, various things like a nebulizer, suction and compasses for you know, respiratory issues if she has them.”
Emily and Shayn say they know there will be more challenges and tough conversations ahead with Sienna, who is now 3 ½ years old.
“I still don’t know how to fully explain that to her. She wants to run around and play with the other kids she wants to do with the other kids do, so trying to explain it to her the best way possible,” says Shayn. “It was difficult and that got me almost as bad as when they told us her condition to begin with.”
In the end, the family says it’s all about staying strong, finding the fun, and appreciating the time they have together.
“They're happy kids, they love life, they love playing, they love fighting, there's just a couple more hurdles in the way,” said Emily.
“A little bit more planning, more forethought. We do the best we can do what we got and try to make sure that she's as happy as possible,” said Shayn. “I'd rather live a million lifetimes with them than one without them.”
The family credits the support of loved ones and their church for helping them through everything.
They also say the group Cure SMA has been invaluable with information and assistance.
As for testing for the disease, SMA was added to Michigan’s Newborn Screening Panel in 2020.
