Energy, Dedication, Hope Help Parents of Children with Congenital MMD1

Life-threatening complications at birth and progress in early childhood characterize congenital MMD1

Concern about Cody Beam started right away. "About 12 minutes after he was born, he quit breathing while my husband was holding him," recalls Cody’s mother, Tina Beam, of Arlington, Wash.

Cody, born at Providence Regional Medical Center in Everett, Wash., was "very floppy and couldn't swallow," Tina recalls. He was whisked away to the neonatal intensive care unit, where he was placed on a ventilator, and then transferred to Seattle Children's Hospital when he was a week old. He stayed there another three weeks.

"They checked him out for everything," Tina says. "They checked his eyes, his heart and lungs, and his feet, because they were turned in. I think he's seen just about every doctor there — ear, nose and throat, cardiology, pulmonary. There was a lot going on."

The Beams were fortunate to get a DNA-confirmed diagnosis — congenital-onset type 1 myotonic dystrophy (MMD1 or DM1)— within a month, a relatively short time compared to what many families experience.

Tina and Cody both have MMD1

Tina learned that she too has MMD1, although until Cody was born, she wasn't aware of the disease in herself.

"The only thing I have is I'm weak in my hands," she says, "but I also have worked for many years on a computer, so I never thought anything of it. I just assumed that my hands were weak from being on the computer all day."

A rocky first year, but then things turned around

Cody came home from the hospital when he was about a month old, with a feeding tube down his nose and supplemental oxygen.

The nasogastric (nose-to-stomach) tube was later replaced with a standard gastrostomytube, which goes directly into the stomach from outside; and then with a type of gastrostomy tube that can be detached between feedings (the brand name is MIC-KEY feeding tube), leaving a permanent interface on the abdomen that looks like the seal on a beach ball.

The first year was rocky. Cody had trouble breathing and "absolutely couldn’t eat anything," Tina recalls. His feet were put into casts to straighten them. The future looked uncertain.

But, says Tina, "About the time he turned a year old, everything turned around."

One night, when Cody was about a year, the family was having vanilla pudding for dessert, and Cody was "adamant that he wanted my pudding," Tina says. "We had tried rice cereal before that, but he wouldn't eat it. I thought, Well, I'll try this; it's just a little bite. And he kept wanting more, and he was swallowing it, and nothing came back up. We tried the rice cereal again the next day, and he just didn't want it. We found out that he just didn't like rice cereal!"

At 2 years and 4 months, Cody "does eat quite a bit by mouth but not enough to sustain himself," Tina says, so he gets two supplemental tube feedings during the day and one at bedtime.

His breathing has stabilized so much that he's slept in his own room without oxygen or a monitor since shortly after he turned 2, in August 2011.

"We started taking him off [the oxygen] a little bit at a time," Tina says. When he was about 4 months old, he was able to stay off it for periods of time during the day, and by the end of his first year he was only on it during the night.

Cody's motor skills also have been improving. At about 18 months, he began crawling on his hands and knees, and he's now starting to walk, with support. (Most children can walk unaided before 18 months.)

"He will walk holding onto our hands," Tina says, "but he's on his toes. We've been trying to work on that. He can use a walker and walk just fine too. But he won't walk on his own. He'll hold onto the bed or the couch and walk around it or down the side of it. But his speed in walking, holding onto our hands, has gotten good enough that I wouldn't be surprised if he takes off on his own soon."

Cody's vision and hearing have checked out fine, as has his heart function. He's had two echocardiograms and two 24-hour EKGs with a Holter monitor. "They'll check it every year," Tina says.

Meanwhile, she's optimistic about Cody's cognitive and social development. "They haven't really tested it," Tina says. "But as far as we're concerned, he's sharp as a tack. I can almost say anything to him — 'Close the door, open the door, close the cupboard, put that back, put that down, give it to me' — and he knows exactly what I'm talking about and will do it. If you say 'Get ready to go,' he’ll get his coat. As far as we're concerned, he understands."

Cody's speaking vocabulary is limited to "uh-oh" and "yee-hah" (the average 2-year-old can say sentences of two to four words), but his speech therapist thinks that may be a problem with the oral muscles more than it is a cognitive deficit and has recommended that he begin learning sign language.

The Beams have just started that, and so far, Tina says, "it seems to be going OK." (Unfortunately, many children with congenital-onset MMD have very weak hands and can't use conventional sign language.)

His social development is progressing fairly normally as well, including tantrums typical of 2-year-olds and decided preferences for certain people and things.

He's starting to recognize the doctor they see about his feet, and "he doesn't like him," Tina says. "Anybody else, he's pretty good with. For a long time, he didn't like anybody. If you weren't Mom or Dad, you weren't good enough. He would just cry and cry. But he's finally starting to warm up to Grandma. It's about time, because she was starting to get her feelings hurt."

(Temper tantrums, fear of strangers and showing affection to familiar people usually emerge at around 18 months. Cody's development is somewhat delayed, but definitely moving in the right direction.)

Doing 'amazingly well,' with lots of help

Family life has certainly changed since Cody's birth. Tina is no longer working outside the home because of Cody's special needs and therapy appointments, which take place one to three mornings a week.

Reading the story of Liz Trumpy (see Great Expectations: Pregnancy and Childbirth with Neuromuscular Disease, Quest, July-September 2010), shortly after Cody’s diagnosis "just kind of gave me hope" that progress was possible for her son, Tina says, and much progress has been made.

"We don't do everything for him," she says. "We make him do it. That's the only way they're going to get better. If they can do it, you just have to force them."

With Cody, a Binky (pacifier) is the most reliable motivator. "To get him to stand up and get something off the counter, the Binky is a big motivator," Tina says. "We did the same thing when we first got the walker. We would sit in front of him, and if he tried to crawl to us, we'd put him back and say, 'If you use the walker and come to me, you can have your Binky.' He’ll do anything for that Binky."

She says, "He does amazingly well considering what we started with. It sounds like a lot, because he can't eat just anything and he can't talk and he can't walk, but when you consider what we started with, we're fine with it."

Florida family also had scary first year with their baby

Elizabeth Conte in Jacksonville, Fla., tells a similar story about her daughter, Kate, now 2½.

"About 18 hours after she was born, she had some breathing complications and some other things. She wasn't eating well, and her blood sugar dropped, and we ended up with a trip to the neonatal intensive care unit at Wolfson Children's Hospital in Jacksonville."

Kate stayed in the NICU for about two weeks. Meanwhile, Elizabeth, still recovering from a Caesarean delivery, also had to care for her older child, Charlie, then 2.

"That complicates it all, when you're trying to balance between a child that misses you at home and a new baby you don't know what's going on with," she says.

Newborn Kate was "very floppy and didn't move a whole lot, but they got her breathing under control," her mother recalls. "We left the NICU not really knowing what was wrong with her. We just knew that she had taken several tests for different things. It was about the age of 3 months when we got the DNA test result back, and it was positive for myotonic dystrophy."

The Contes learned that Kate had congenital-onset MMD1 and that Elizabeth herself was probably affected.

Elizabeth says they had "no idea it ran in the family. I'm one of six children, so for us that was a huge thing." She remembers going home feeling devastated.

"We lived for about the next week in complete depression around my house. No one smiled, no one laughed. It was just horrible. Then my husband and I were eating dinner one night, and I said, 'I can’t do this anymore. I cannot live like this. I'm a positive person. I can't live in this kind of dreariness anymore.' He said, 'I'm feeling the same thing. Let's make a change.' So we did.

"We decided we were going to research and find out everything we could about the disease; that we were going to be proactive and find the best treatments we could for her. We knew it was genetic and we knew I probably had it, but we didn't know much more than that."

Elizabeth and her husband, David, quickly educated themselves, through MDA and other sources, such as the book Myotonic Dystrophy: The Facts (Oxford University Press, 2009), which was written for families by renowned medical geneticist Peter Harper.

Elizabeth, who taught kindergarten and first grade for 10 years, says she now stays home full time because of Kate, whom she got involved in a Florida-based early intervention program called Early Steps as soon as possible.

"The first year of life was very slow, very tedious," Elizabeth recalls. "She didn't make a whole lot of progress very quickly. Finally, after she turned a year old, she was able to sit up on her own and stay in a sitting position without falling over. And then once we got to that, the trunk tone increased, and she made great progress after that.

"But the first year was really tough. We had a lot of choking episodes, a lot of chest infections, and we ended up in the hospital several times."

Kate has now exceeded her parents' expectations

"She started walking right around the age of 2. She's still not fully where she should be developmentally for her age, but she is so much farther than we ever thought she was going to be," Elizabeth says.

"She's eating and drinking, and she's doing well with that. We have very little choking now. She has an occupational therapist, a speech therapist and a physical therapist. Right now, she's attending two mornings a week of a little preschool program, and she's loving it and is doing well. I just had a conference with her teacher, and she was so pleased that Kate can get around her environment without falling.

"She can say some words, but she's very limited in her speech. She's learned a lot of sign language from a video called 'Signing Time,' and she uses it all the time to communicate with us, which is really helpful.” (Signing Time markets DVDs that teach sign language to babies and children; they're about $20 each.)

Not just about Kate

Elizabeth, 35, has no MMD1 symptoms at all, but the Contes worry about her future. She hasn't had a DNA test, but since her father and daughter both have had positive test results for MMD1, doctors have told Elizabeth that she must be affected. "He said, 'You're the link in between, so we know you've got it.'"

Elizabeth also believes some of her siblings may be affected, but her greatest concern is for her son, Charlie. "We're not having him tested," she says, although she knows there’s a 50 percent chance that he's inherited the MMD1 gene defect from her. "We watch," Elizabeth said. "We know some of the signs of the childhood-onset form, but we haven't seen anything yet." It's not something they like to think about.

"I think probably the most devastating blow was not just that I have a daughter that has an issue, but that I have an issue and everybody else — we don't know if they have it or not."

Her advice to others: "Be knowledgeable. I would definitely say read, read, read, because you can never learn enough about it. There's always something new coming."

After extensive self-education, Elizabeth says, "this makes sense to me now. I understand why this and that, and the things we need to look out for. Because of that, I feel like we're on top of Kate's medical condition all the time. And when I go in, I feel like I have valuable information to share at each visit with each specialist."

Baby with congenital MMD1 often a wake-up call

Having a child with congenital-onset MMD1 remains a common way for the disease to be recognized in a family, says Stanford University neurologist John Day. Even when an adult with MMD1 has serious symptoms (not the case for Tina Beam or Elizabeth Conte), they're often not connected to MMD until an affected baby is born.

Day recalls a woman who needed cataract surgery at age 25 and had a cardiac arrest requiring an implanted defibrillator at age 28, but whose underlying MMD1 was unrecognized until her first child was born with congenital MMD1.

"Unfortunately, those of us teaching medical students have too often provided them with an inaccurate image of muscular dystrophy that is at odds with adult-onset MMD," Day says. "Because the clinical features of MMD are so tremendously variable in adults, and the increase in disease severity between parents and their children can be so marked, the existence of MMD in parents is all too often obscured until an affected child is correctly diagnosed."

Although the prognosis for babies born with congenital MMD1 has improved with neonatal intensive care, therapies during early childhood and special education, the disease still has profound consequences and can be life-threatening, especially in the early months.

Day says better awareness by doctors of the signs and symptoms of adult-onset MMD1 — such things as early cardiac abnormalities, early and unusual cataracts, grip myotonia and weakness that can be subtle — is needed to help families make informed decisions and help parents and professionals prepare for the possible birth of a baby with special needs.