Caring for a Child with Spinal Muscular Atrophy

When a doctor tells you that your child has spinal muscular atrophy (SMA), you may feel overwhelmed and full of questions.

SMA is rare -- only one in 6,000 to one in 10,000 people have it. So your child’s diagnosis may be the first time you’re hearing about this uncommon neuromuscular disease. But with good medical, social, and emotional support, you can learn how to best care for your child.

Amanda Camp of Lakeland, FL, found out her son Asher had SMA when he was 6 months old. His low muscle tone led to testing, which led to his diagnosis. Camp says she felt like the news came completely out of left field.

“We had no idea something like SMA even existed,” she says. “You grow up in a world knowing about cancer, cystic fibrosis, even muscular dystrophy -- the bigger, better-known diseases -- but SMA wasn't on my radar.”

Now, 7 years later, Asher and his family have been through it all: clinical trials, medications, therapies, and the everyday ups and downs of life with SMA.

Building Your Team

A big part of caring for your child is seeing specialists who can help you make decisions about treatment, therapies, and daily life with SMA. You’ll start with a “point person,” or lead doctor.

“There’s a primary SMA expert, typically a neurologist or neuromuscular specialist, who leads your child’s team and directs overall care,” says Matthew Harmelink, MD, director of the pediatric neuromuscular program at Children’s Wisconsin.

Depending on your child’s needs and the clinic you go to, you may also see a:

• Pulmonologist for breathing issues
• Gastroenterologist for feeding problems and weight gain issues
• Physiatrist for any equipment and problems related to rehab
• Physical therapist to work on strength
• Occupational therapist to work on fine motor tasks
• Speech therapist to evaluate sleep and feeding
• Orthopedist and/or bone specialist to work on scoliosis and bone health

Camp says her family started seeing a dietitian to help keep Asher’s weight up.

“He’s very active, and he also burns a lot of calories coughing and trying to breathe, so weight gain is an issue,” she says. Some specialists and therapists you’ll see a lot, others you may visit only every once in a while, depending on what’s going on with your child.

Some agencies provide in-home care so you don’t have to leave your house.

“Asher has two speech, two PT, and two OT appointments a week -- and two older sisters -- so being able to find services that would come to us was a godsend,” says Camp.

In addition to traditional therapies, Camp says to address things like core strength, stiffness, and flexibility, they’ve also used:

• Aqua therapy
• Hippotherapy (therapy using horseback riding)
• Acupuncture
• Chiropractic and myofascial massage

The Right Medication

SMA treatments have come a long way.

“Previously, the majority of cases of SMA were fatal without breathing and feeding support,” Harmelink says. “However, with treatments, the outcome of patients is much better.”

There are three FDA-approved medications for SMA:

Nusinersen (Spinraza) is a drug your child gets through a spinal tap about every 2 weeks for 6 weeks, then one more dose 30 days after that. Once that's done, doses come every 4 months. Side effects are mild and may include:

• More protein in their urine
• Low blood platelet counts
• Blood clotting issues
• Back pain
• Headache
• Reduction in growth
• Lower respiratory tract infection
• Constipation

Camp says her biggest concern for Asher, who is on nusinersen, is not actually about the drug, but the process of getting it.

“At this point, he’s had 21 injections, and has been sedated for 11 of them,” she says. “I worry more about the number of sedations than the injection itself.”

Onasemnogene abeparvovec-xioi (Zolgensma) is FDA-approved for kids under 24 months.

“It uses a modified virus to deliver the SMN1 gene into your child’s cells,” Harmelink says. A doctor gives your child the drug once by IV. It can sometimes cause vomiting or liver problems.

Risdiplam (Evrysdi) is the easiest treatment to administer. Approved for children 2 months and older, it is taken orally after a meal each day. It can cause a fever, diarrhea or constipation, rash, upper respiratory tract infection, pneumonia and vomiting.

Life With SMA

SMA shows up differently in everyone who has it. Your child may need a lot of hands-on care, or only a little. Some of the other daily needs for kids with SMA can include:

Help breathing. Weak muscles in your child’s respiratory system can make it hard to cough or clear out mucus.

“Children with milder symptoms may not need any respiratory treatments,” Harmelink says. “For those who do, these can range from a mask and machine that provides pressure to a permanent tube in the throat to have a machine breathe for them.”

There are also devices that can help your child cough up mucus. Your doctor can also prescribe medications to help them breathe better.

Help moving. Kids are naturally curious, and they want to be able to explore their world. Yours may need a device to help them do this. Standers, walkers, wheelchairs, and braces can help with standing and moving around.

Nutritional support. If your child has problems swallowing or chewing, a gastroenterologist may fit them with a g-tube implanted surgically into the stomach. It helps liquid nutrition go right into their stomach without having to go through the mouth, throat, or esophagus.

Emotional support. Camp says one of the more surprising issues that's come up for Asher because of his SMA is his struggle with certain fears.

“There was a time when he didn’t want us to leave him alone in a room by himself, and even now, he always has to know where we are,” she says.

Not being able to move as fast as he wants creates other fears and frustrations, too.

“He’s terrified of bugs, because he’s often on their level and can’t get away from them quickly.”

Take Care of You

Parenting a child with special health needs can take a toll on your mental, emotional, and social health. Be sure you find ways to save some of your energy for your own needs, too.

“Just as it is important to care for your child’s physical well-being, caring for your own psychological well-being is also very important,” says Harmelink.

Ask for help when you need it. Seek out counseling or a support group. And most of all, Camp says, be honest with yourself about your feelings.

“I tried for a long time to just say, ‘It’s OK, we’ve got this, we’re OK,’ and for the most part, we do and we are,” says Camp. “But the truth is, some days are just hard. It’s so important to acknowledge that, and then give yourself lots of grace.”

Read more on: brain, understanding sma