A Rare Muscular Dystrophy Doesn’t Slow Down Carter

New parents Ashley and Matt had no idea they each carried the gene for a rare muscular dystrophy when their twins, Carter and Calvin, were born. All they knew was that newborn Carter was not doing as well as his brother. He fed slower and showed low muscle tone. “I’m a naturopathic physician and my husband is a chiropractor, and we were like, something’s not right,” Ashley said. After back-and-forth visits with their pediatrician, they were referred to Connecticut Children’s Emergency Department, where more tests were run.

Then Gyula Acsadi, MD, PhD, Division Head of Neurology, said he thought he knew what was going on, but one more blood test was needed. That test revealed that Carter’s creatine-kinase levels were elevated to an alarming level that indicated muscle breakdown typically associated with muscular dystrophy (MD). There are more than 30 types of MD, so genetic testing was required to identify the exact type that Carter had. He was just two weeks old.

We were given a pamphlet with all the different options, and there’s so many scary ones and not so scary ones that the six-week waiting period was pretty tough"
Ashley, Carter’s mother

Diagnosed with LAMA2-related muscular dystrophy

After six weeks, Dr. Acsadi called with the results. Carter had LAMA2-related muscular dystrophy, which causes muscle weakness and progressive atrophy. LAMA2-related MD is the result of two genetic mutations that cause complete or partial deficiency in the production of a protein called laminin-211, which plays a crucial role in skeletal muscle structure and function. LAMA2-related MD is the most common type of congenital muscular dystrophy, though it is still very rare. From the day Ashley and Matt received Carter’s diagnosis, they accepted that, “this is just our life now. It flipped a switch and then we were just worried about let’s make our house adaptable. Let’s buy a handicap van. What are the mobility devices he’ll need, so we can live as normal a life as possible,” she said.

Zooming through life with MD

When Carter was a year old, a Connecticut Children’s care coordinator helped the family acquire a grant for a miniature power chair sized for a young child, a $3,000 piece of equipment that wasn’t covered by insurance. “It was amazing. Carter could zoom around the house,” Ashley remembered. “He had total mobility in that thing.” Today, Carter gets around in a larger power chair that weighs 350 pounds, so heavy that they needed to install a lift from the garage level to their house. Carter continues to see multiple specialties at Connecticut Children’s, including neurology, endocrinology, pulmonary medicine, cardiology, gastroenterology, and physical and occupational therapy. In the future, Carter will need surgery for orthopedic spinal rods.

A brotherly bond

Carter is, in many ways, a typical 6-year-old boy. He loves all things cars and enjoys playing racing video games. For Hanukkah, his grandfather surprised him with tickets to a monster truck rally. At home, Carter and Calvin are like any siblings. They’re close, but they also fight over the iPad and spend hours playing tag and hide and seek. Although they are in different classrooms, Calvin is the go-to person when Carter’s power chair malfunctions at school. Carter attends a regular classroom, where school staff adapt activities to make sure he can participate fully. He especially loves PE, art, and music. “He’s super social,” Ashley said. “He remembers everybody’s name. He loves to talk and be around other people.”