Changing the Lives of Patients with

Myotubular and Centronuclear Myopathies (CNM)

Meet Evan

Five years after Kim and Travis welcomed a healthy baby boy into the world, they were excited to learn they were expecting once again. But this pregnancy was different. Most noticeably, this baby did not move much. Although her doctor told Kim it was fine, her mother’s instinct told her otherwise. Kim underwent a number of tests, and the only revelation was a slightly larger than normal amount of amniotic fluid. She was assured there was nothing to worry about.

When baby boy Evan was born, the facial expressions of others in the room immediately told Kim there was a serious problem. “Evan was blue, and his limbs were hanging motionless. He was like a rag doll,” Kim shared. “I wasn’t allowed to hold him, he was taken right away and given oxygen.”
Evan was immediately transferred from the small hospital near the family home in Indiana to Cincinnati Children’s Hospital in Ohio, a world-renowned pediatric hospital that could provide Evan with the intensive care he needed. Evan was unable to breathe on his own and had extremely low muscle tone. Doctors searched for answers, including looking into Kim’s own family history. Kim’s father had some unusual muscle weakness beginning as a teenager. He had been diagnosed with Charcot-Marie-Tooth, a rare neurological disorder that can cause muscle weakness among other symptoms. Kim and her family would eventually learn that this diagnosis was incorrect.

As doctors worked to stabilize Evan, genetic disease specialists tried to determine what was causing his symptoms. “We were in a holding pattern,” Kim explained. “The initial tests were all coming back negative. We were so worried he wasn’t going to make it, and we were desperate for an answer.” One month later, Evan tested positive for Myotubular Myopathy (MTM), a rare genetic neuromuscular disorder characterized by muscle weakness that can range from mild to very profound, debilitating, and life-threatening. Symptoms are often present at birth, though may develop later in infancy or early childhood. Because of weakness in muscles that are involved in swallowing and breathing, patients often have severe respiratory distress and require a ventilator for breathing.

Kim and her family, grateful for a diagnosis but tremendously overwhelmed, began to learn all they could about MTM. Evan’s doctors knew of one other case of MTM, and the families reached out to each other. It was their most powerful and effective source for education about MTM, as online searches showed outdated information and focused only on poor survival rates.

Evan remained hospitalized for 6 months. He received both a tracheostomy to breathe and a G-tube for nourishment. The hospital staff cared also for Evan’s parents during this time, preparing them for life at home with an infant with MTM. “We had no idea how we were going to take this on,” Kim shared. Both Kim and Travis both work full time, and Travis is frequently away from home as a truck driver. They also had a young son already at home. With the support of caring hospital staff, the family received diligent training on how to care for a medically fragile child who needed 24-hour care. And Evan went home.

Today, Evan is 12 years old. He is cognitively behind (within the range of a 1 – 2 years old) and does not have written or verbal communication ability. He performs impressively in physical therapy and can roll over and sit up, always with supervision. He adores his older brother, Colton, and Kim fondly remembers making them forts with blankets and the time they spent together playing video games.

Despite their challenges, Evan’s family has reasons to be grateful. Brother Colton credits his younger brother for “making me a better human.” For Kim, the MTM patient community and their presence on social media have provided her with support, understanding and practical tips on the best way to approach Evan’s care as he gets older and his needs change. For example, in 2009, Evan became jaundice and a doctor suggested a liver biopsy. Kim posed a question to the community and she received a swell of responses. Kim regularly turns to the patient community for advice on issues like schooling, wheelchairs, the right bed for Evan, etc. “I don’t know what I would do if I were alone in trying to manage MTM,” Kim said. “I never thought I’d be so grateful for Facebook!”

Life has not been easy. The biggest burden for the family has been finding proper nursing care for Evan. Living in a small town, finding trained quality care is difficult, but Evan’s life depends upon just that. When the family cannot find the care Evan needs, Kim cannot work.

When Kim was faced with bringing home her medically fragile child, the thought was overwhelming. She has learned a great deal in her 12 years of caring for Evan. Her advice to other families is to reach out to others who have walked this path before. Patients and their families are the experts, and doctors still have so much to learn from each patient experience.

Kim has simple but important goals for Evan. She is hopeful to find a power wheelchair for him. “It would open new doors for Evan, new worlds for him,” Kim said. Longer term, she hopes Evan will lead a happy and healthy life. Kim concluded, “I’d like to avoid the hospital. I don’t want to miss any more holidays.”

On having a sibling with a rare disease:
“I worried, how is this going to affect my other kid? I’ve learned it has made him a better human.”
“If it wasn’t for (my brother) Evan, I don’t know what kind of person I would be.”
On the importance of community:
“No one has taught me more about MTM than other parents who are in the same boat. We lean on each other, and frequently educate medical professionals on this disease.”