"You know how babies push through their legs when you bounce them? Miles collapsed at the knees."
When Nikki McIntosh gave birth to her first son, Mason, she listened to relaxing music to help her through the pain. “It didn’t work,” she laughs, “so my second son, Miles, came out kicking to 'Eye of the Tiger.'” And that has been our theme song ever since.”
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When Miles turned 13 months old, Nikki told the doctor she wasn’t waiting any longer and demanded referrals to specialists to find real answers. “I was praying I was wrong,” says Nikki.“But in my gut I knew I was right.”
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Facing Our Fears
In the next few months, Miles underwent more testing and did physical therapy, but “we didn’t see any improvement,” says Nikki. By now panicked, she took him to see Wendy Mitchell, M.D., a pediatric neurologist at Children’s Hospital Los Angeles, who ordered a blood screening and an MRI (to check whether his spinal cord was “tethered,” which would mean it was being pulled by extra tissue impeding his mobility — an issue fixable through surgery).With the MRI appointment weeks away, Nikki took Miles to a new pediatrician for his 18-month checkup and filled the doctor in on her son’s symptoms. This physician asked the question that still haunts Nikki: “Are they testing for SMA?” She had never heard of it, but she Googled it later — and felt her heart drop.
SMA occurs in one out of every 10,000 babies.
SMA, or spinal muscular atrophy, is a genetic degenerative disease that affects motor nerve cells, weakening the body's muscles. Its various types can affect a child’s ability to walk, stand, swallow, and breathe. SMA occurs in one out of every 10,000 babies; one in 50 people is a carrier of the gene that causes it, and when two carriers come together, a pregnancy has a 25% chance of resulting in a child with the disease.[post_ads_2]
One fact stood out: SMA was the leading genetic cause of death in children under 2. Nikki was stunned. Terrified, she buried her fears deeply and didn’t mention SMA to anyone, not even Tony. “I didn’t want to frighten him,” she says. But she couldn’t protect him for long.
A few weeks later, Nikki and Tony brought Miles in for his MRI. When the results were negative, Tony was elated, but Nikki was drowning in dread. “It’s not good news,” she told him.“It means it could be something else ... something bigger.” That was when she confessed her fears about SMA. “He was like, ‘Don’t you ever, ever hold anything back again,’” says Nikki. “‘Don’t take that on yourself — we’re in this together.’”
For his next test, Miles was prodded with tiny needles to test his muscle response, revealing an abnormality right away. “That’s when I knew,”says Nikki. “I asked Dr. Mitchell if she was looking for SMA, and she said yes.” (“I suspected SMA from the start,” says Dr. Mitchell. “But I wanted to rule out anything treatable first because at that point there was no treatment for it.”)
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This was it — Nikki’s worst nightmare.“Suddenly I couldn’t hear anything,” she says.“It was a frozen moment.” But she had to focus, because she and Tony had to take Miles to another floor for a genetic blood test to confirm the diagnosis.
“That walk,” says Nikki. “You hear stories about moments like this ... it was pure stillness in that hallway. I wanted to collapse, to roll into a ball and cry.” But they had to be brave and comfort Miles through the blood draw. They went home “in complete shambles,” says Nikki.“We went over to my parents’ house, and we all cried together.” Then they had to wait for the results to come in. “That was the worst,” she says.
Three weeks later, in September 2013, the test confirmed that Miles had SMA, which meant he was missing a gene that produces proteins that keep the body’s motor neurons alive. These neurons, in turn, trigger muscles to move. (He was diagnosed with type 2; type 1 is the severest form of SMA — kids with it can’t sit up on their own.)
All we could do was love our son and try to keep him as strong as possible.
“Everything kind of went dark,” says Nikki. Those first mornings after the diagnosis were the hardest: “I’d wake up ... and fall back into bed and start crying.” This went on for a couple of weeks: Wake up. Cry. Repeat. “I didn’t even want to walk outside and get my mail, because I didn’t feel strong enough to talk about it. I couldn’t have a conversation without breaking down,” she says.[post_ads_2]
Further testing confirmed that Nikki and Tony were both carriers (their son Mason is not). Then the geneticist dealt them the toughest blow of all. “She told us the progression of the disease was inevitable,” says Nikki. All she and Tony could do was love Miles and try to maintain the strength he had. “But I didn’t believe it,” Nikki says. “I had faith that we would find a way.”
The Search for an Answer
Nikki quit her job to take care of Miles full time, and the couple joined the nonprofit Cure SMA to learn all they could about the disease. At the first conference, they met fellow SMA parents who walked them through what to expect, and they saw firsthand the realities of the disease in older children. “All these moms, they’re warriors,”says Nikki, who saw in them who she would become: “You learn to be strong. Just push, push, push, push, push for everything you need.”[post_ads]The other moms told Nikki she’d have to fight to see doctors and battle insurance companies that denied claims for equipment. Thankfully, they got approval right away for leg braces.“The look on his face when he was able to be up on his own feet for the first time was the best moment ever,” says Nikki. But the family was denied a stander, a piece of equipment that kids are strapped into so they can bear weight properly, helping with their circulation, bone density and other health issues.“We appealed. We were denied; we appealed again. We were denied; then we had to appeal to the State of California Department of Insurance,” says Nikki. She submitted documentation of all the research she’d done along with letters from Miles’s doctors supporting the request, and it was finally approved.
At times, the strain seemed overwhelming.“I was dealing with the emotional aspects of the diagnosis and taking him to all these appointments and therapies and finding more time for appeals. If you have a child with special needs, it’s time you don’t have,” says Nikki. Because the chest muscles of kids with SMA are not strong enough to clear secretions on their own, Miles also needed a suction machine and a device called a cough assist to help keep his airways open to avoid life-threatening complications like pneumonia. Next came a manual wheelchair and a power chair so he could get around on his own. Their efforts paid off, and Miles stayed strong. He even had a big growth spurt, gaining four inches. Cognitively, he shone: By 2 1/2, he was happily singing his ABCs, counting to 12 and speaking in full sentences.
The progression of the disease is inevitable.
[post_ads]But then, says Nikki, “we started to see the regression.” When they’d pick him up, his head would drop back because his neck muscles couldn’t support it. He was so wobbly, he couldn’t sit up without falling over. Nikki heard the geneticist’s words in her head again: “The progression of the disease is inevitable.” No, she thought. Not my fighter. She wasn’t ready to give up that easily.It was then that she and Tony learned through Cure SMA about clinical trials for a new drug underway at UCLA. Miles fit the criteria for one of them, and Nikki tapped her inner warrior to get him in. “I was calling like a crazy person,” she says, and she and Tony made appointments at doctors’ offices to beg for Miles to be included in the trial, which was taking a limited number of patients worldwide. It worked: In January 2015, Miles was put under anesthesia to receive his first dose of the medication Spinraza, which was injected into his spinal fluid to help produce the protein needed to keep him strong and moving.
[post_ads]Not long after that, when Nikki laid Miles on his changing table, he lifted up his legs in a way he’d never been able to. “Tony, look!” she shouted. “He couldn’t do that before, right? We’re not crazy, right?” Was it really happening?
Within months, he could take more steps in his walker. And they weren’t the only family in the trial seeing miracles — in fact, the results were so spectacular that the drug was fast-tracked for approval, which the FDA granted in December 2016. Talk about a Christmas gift: This was a viable drug that Miles could continue to take, and so could other children with SMA.
New Hope and Happiness
Miles has been receiving the drug every six months for the past two years. It is meant to be a lifetime medication, though it is possible that children will hit a plateau. The drug hasn’t been tested long enough for parents and doctors to know all the answers. “We are in uncharted territory,” says Nikki. “But we try to replace fear of the unknown with hope for the possibilities.”[post_ads]Miles is little for 6, and he mostly uses his wheelchair, but he is still a fighter. He can now walk 80 feet on his own with a walker and pull himself up into his wheelchair. “He never stops trying,” says Nikki. Recently, he even started walking up steps with handrails.
Miles attends school with an aide, has many friends and plays all-abilities baseball. “He’s a spitfire, always negotiating with me, which is hard to parent,” laughs Nikki. But she’s proud of him for it: “Because he doesn’t have the physical capabilities of other kids, he has to use his mind to get what he needs.” That’s a skill she knows he’ll use for life.
Nikki has come along way too. As she watches her boys play in the driveway — Mason riding his bike, Miles zooming in his wheelchair alongside his brother — she remembers parents of other ill children telling her it would all be okay. “I thought, How can you know?” says Nikki. But now she sees what they meant: “In the beginning, it’s scary and will test everything about you.” She motions to the other houses in their quiet cul-de-sac. “Your life might look different than the family’s next door, but you’ll find your path. And your kid will too.”
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Miles shoots his chair up to the house, triumphant. “I saw two wizards, Mom!” he shouts. It takes a minute to register that he’s getting his L’s wrong — Miles means “lizards.” But he is right about the wizards. That drug, these miracles, this joy? There is magic here.
See more at: Good Housekeeping
