What's a Parent to Do?

by Bill Greenberg on December 1, 2002 - 12:34pm

Parents of kids with neuromuscular diseases may be preparing to deal with their children’s progressive physical limitations, only to find they also have to cope with cognitive deficits. In other cases, cognitive difficulties are the first symptoms of the child’s neuromuscular disease.

In either case, when a neuromuscular disease affects the brain, a new level of care and attention is required of the parents.

Symptoms to look for

Deficits in mental or sensory functioning may become apparent through a child’s behavior, learning difficulties or school problems. (See “When Neuromuscular Disease Affects the Brain,” Quest, December 2002.) These cognitive effects may create frustration, confusion and other unexpected emotional reactions in the child.

“Emotions can be off,” neurologist Mark F. Mehler at Albert Einstein College of Medicine in New York explains. Signs include “irritability or, conversely, apathy — a kid not appearing to be engaged or involved, or being overly so.”

As a result, the child may have some problems interacting with others, including siblings.

“You can have a child who is excessively irritable or aggressive with a sibling, or a child who becomes very withdrawn in the presence of a sibling who is warm, loving and engaging.”

Other indicators of a cognitive problem that needs attention include wildly fluctuating behavior or extreme variations in behavior between home and school.

“A parent will get a note from school that just seems to have been written about another child,” Mehler warns.

Learning problems

With or without emotional manifestations, a cognitive disability may first show up as a learning challenge in school.

Today, much is known about the cognitive disabilities that accompany some neuromuscular diseases, and symptoms can be recognized and addressed.

That wasn’t the case in 1970, when John and Mary (not their real names) moved from Ohio to a small town in the Northeast with their three sons — Albert, 9; Barry, 4; and Charlie, 1.

“Albert was doing fine in school. He could read and everything else,” John says. “When he was in the fourth grade, things started going downhill for him. He wasn’t getting good grades, couldn’t concentrate. We thought it was the move.”

But as time passed, things didn’t improve. A year later, Barry was due to start kindergarten. This time, John and Mary were already anticipating problems.

“We thought Barry had a birth defect, because he was such a difficult delivery and had club feet, so we didn’t expect much,” John recalls. “They didn’t know what to do with him at the grammar school, so they sent him to a school for troubled people.

“But he wasn’t in trouble. He just had a disability.”

By the time David was born in 1972, John and Mary knew something was wrong with their three older boys, but they didn’t know what. The boys had no physical trouble, but teachers reported that they couldn’t seem to grasp simple concepts in math, spelling and sentence structure. Teachers had difficulty getting the boys to focus attention on their schoolwork.

“I especially remember struggling with Albert on his multiplication tables,” John recalls. “No matter how many times we went over them, he just couldn’t seem to retain the information.

“Then, when Charlie started, the school couldn’t do anything with him, either. So when they asked if we would mind taking them to a pediatric ward at a local hospital, we said no, we’d be glad to. We wanted to find out what was going on,” John explains.

Getting a diagnosis

Despite numerous clinic visits, it wasn’t until 1982 that John and Mary finally received the news: All four boys were affected by myotonic muscular dystrophy (MMD).

“This was a relief to us,” John says. “Just to know that at least we knew the reason why, if for nothing else.”

Finally, they knew what they were up against. Once they knew what symptoms to look for, they determined that Mary also had the disease, as did several members of her family.

Mary hadn’t manifested cognitive difficulties, but had mild physical symptoms of MMD, including ptosis (drooping eyelids) and a smooth brow, along with weakness in her forearms and lower legs.

“When we found out it was myotonic dystrophy, she said, ‘Well, now I know why I never got any wrinkles,’” John recalls with a chuckle.

Only with an accurate diagnosis can parents hope to understand what’s wrong with a child and then deal with the full range of symptoms.

“The first step is to realize that the problem is as likely to be due to a manifestation of a real neurologic disease, as it is to be a reaction to something else,” Mehler asserts. “Then the issue becomes, where do you interface in the medical system?”

If you suspect a link between your child’s cognitive difficulties and his or her neuromuscular disease, your MDA clinic physician can order a neuropsychological evaluation, if appropriate.

You could also start with your child’s pediatrician. In fact, under some health insurance plans, this step is mandatory.

If a pediatrician isn’t providing helpful advice, Mehler advises, “be prepared to ask to see a specialist in behavior or cognition.”

He recommends that, if possible, parents seek advice from doctors located at academic institutions, such as the ones that house most MDA clinics.

“You’re going to have a greater likelihood that they will make the proper identification at an academic medical center,” he says. “That’s what the training is all about.”

Now what?

Once you obtain an accurate diagnosis, then the real work begins.

“Once you recognize that there is a problem, parents need to trust their instincts,” Mehler says.

“Be persistent,” he adds. “Don’t rely on the health care system to give you all the answers. Once you have a sense of something, be proactive. Ask as many questions as you need.”

Establishing a rapport with a knowledgeable doctor is vitally important. And remember that, no matter how much expertise your doctor has on a given disorder, when it comes to your child, you’re an expert, too.

“I’ve got a doctor who’s very good,” John reports. “He keeps up to date on everything.”

John emphasizes the fact that, even though all four of his sons have the same disease, they’re still very different.

“I can see differences in my sons, when I see them together,” he says. “The doctor sees similarities, because he’s looking at the disease. I’m looking at their personalities.”

Mehler points to his experiences with parents of kids with Duchenne MD. When they learn that the cognitive disability is part of the neuromuscular disease, ”you would think they would either be in disbelief or angry,” Mehler says. “If anything, they were all grateful. Then they couldn’t get enough. They wanted to know everything.”

Stigma, denial and discipline

Dealing with a cognitive disorder can be frustrating, time-consuming and costly. But ignoring it could be even worse.

“There are still a lot of kids that get labeled as ‘troubled kids,’” Mehler reports. “Often their parents send them to special schools or put them under strict supervision — things that are not necessarily the way to go.”

Mehler notes that other kids can make life especially difficult for a child who’s trying to deal with a cognitive disorder. “The traumas inflicted by their peers could well create behavioral problems.”

Stigma can also extend toward the parents, as well-meaning friends, family and teachers offer advice on how to deal with cognitive symptoms, particularly the behavioral ones.

Mehler especially takes issue with those who advocate a “tough love” approach.

“That’s what we call ‘abuse,’” Mehler says flatly. “I think the problem is that our society still has a taboo about things that are behavioral.”

John abandoned the “tough love” approach for a simpler reason: It didn’t work.

“When they were younger I used to get after them, spank them and such,” he recalls. “Now I think back on it and I realize that they just didn’t know any better. They couldn’t understand what I was doing. They didn’t have the ability to understand.”

What does the future hold?

Some children with cognitive disabilities develop coping mechanisms as they mature and, if the disabilities are mild, they may be able to lead independent lives.

But others have more severe, permanent disabilities that make independence impossible. Parents need to take all of the child’s abilities into account in planning, especially for the time when a parent can no longer be the child’s primary caregiver.

Mary passed away in 1990 at age 50, of respiratory difficulties associated with MMD, when her youngest son was 18. But even though all four boys had reached legal adulthood, John has remained involved with the management of their day-to-day lives.

This August, Albert died at age 41 of respiratory failure.

Charlie, now 33, doesn’t use his BiPAP device at night as he’s been instructed.

“Charlie is coming to live with me because he can’t afford an apartment by himself,” he explains. “I’ve got to get him under my control, I guess, to make sure he uses the BiPAP, even though he knows the alternative.”

All three men exhibit classic physical symptoms of MMD, with varying degrees of severity, including apathy, sleepiness, and weakness in the forearms and lower legs. All three have difficulty concentrating, along with below-average skills in communication and math.

David works at a fast-food restaurant but, his father says, “they usually keep him in the back. He doesn’t get up to the front counter where the customers are very much.”

Barry, now 36, is the most severely affected, but the one about whom John is the least concerned. Barry lives in a group home where he gets the daily care that he needs.

John, now 71, worries about his children’s future.

“They’re good fellows, friendly, and they don’t cause anybody any problems,” he says. “In fact, if anything they’re a little on the shy side.”

John has prepared a will and made plans.

“I’ve got the will and everything else set up as best I can,” he says. “I’ve got an executor with the state that’ll manage their bills [a local banker], and a longtime family friend has agreed to keep an eye on how they’re doing, when I’m gone.”

In the meantime, all he can do — as the adage goes — is to take it one day at a time.

”I just try to keep them going, and keep them upbeat as much as I can.”

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