Changing the Lives of Patients with

Myotubular and Centronuclear Myopathies (CNM)

Meet Declan

The name Declan is Scottish in origin and means “full of goodness.” It is the name that Jessica and Adam gave to their son eight years ago shortly after he entered the world and changed their lives. Declan lives with a serious rare disease called X-Linked Myotubular Myopathy (XLMTM) that has created many challenges for him and his family.

When Jessica was pregnant with Declan, she felt little movement and worried constantly that something was wrong. Doctors, however, assured her that everything was fine. But when Declan was born, he was gray, quiet, and unmoving. As Jessica picked up her new son’s hand, it fell beside him lifeless. Doctors were at a loss for answers, theorizing that perhaps he had suffered a stroke. In the days ahead, Declan remained weak and moved little. He ultimately received a tracheostomy for breathing and a g-tube for nourishment. While he did become stronger, Declan was unable to leave the hospital and the family awaited answers from a battery of tests, including an exome sequence that can determine a genetic cause of illness. Doctors were not optimistic about Declan’s prognosis and recommended that the family focus on comfort care. “We knew what they were trying to tell us,” Jessica said. “But we weren’t having it. We knew Declan, we had seen he was in there. We were not going to give up.”

After seven months, Declan was finally diagnosed with XLMTM, a rare genetic neuromuscular disorder characterized by muscle weakness that can range from mild to very profound and debilitating. XLMTM causes weakness in muscles that are involved in swallowing and breathing, and patients often have severe respiratory distress and require ventilation. A rare disorder affecting about 1 in 50,000 male births in the U.S., XLMTM can bring potentially life-threatening complications during infancy and early childhood. Jessica and Adam were told that Declan likely would not live past one year, and that there was no hope to save him. “As a mom knowing that I had passed on something like this to my son, I felt like a monster,” explained Jessica. “It is the worst feeling ever.” Despite the grim news, Adam and Jessica focused on what Declan did have in his favor – he was happy, cognitively developing on schedule and a fighter.

With the help of family and friends, and with intense training on how to care for a medically fragile child, Adam and Jessica brought Declan home. Jessica adjusted to managing a schedule of nurses to ensure 24-hour careful supervision of Declan, and a living room now filled with medical equipment. Still, with all imaginable preparation, Declan has had near-fatal setbacks that have terrified his parents. He once became unexpectedly unresponsive and unable to breathe during a car trip with Adam and Jessica. “As a parent you are hardest on yourself, and you try to anticipate everything,” said Jessica. “You have to be on guard constantly. It is overwhelming in a way I could not have imagined.” Never big planners, Adam and Jessica have decided to live their lives day-to-day, not knowing what challenges will come their way, but agreeing that they must find joy and goodness in the little moments.

Today, Declan is nonverbal but can yell for attention and laugh. He uses a speaking device and American Sign Language – preferring to finger spell everything. Declan loves animals and visits to the zoo, and he is an expert on dinosaurs. He likes visits from friends and his ornery personality makes his parents laugh.

Adam and Jessica hope someday for Declan to sit and hold his head up independently. They would like Declan to get stronger so he would feel more confident and be at less risk of injury. If he were slightly stronger, he could better communicate too – facial expressions, sign language, etc. They would love for him to someday be less dependent on a ventilator to breathe, and not have to miss out on things because of the limitations of being confined to a wheelchair. Ultimately, their goal for Declan is to be happy and to give him his best life. When Declan entered the world, he changed his parents’ lives, and it was changed for the better.

As much stress as this family has faced, they laugh and find joy in their lives every day. “It is not always great, but we adapt and thrive,” said Jessica. “We see the goodness.”

On caring for a medically fragile child:
“With school and therapy and trying to balance your child’s needs with work and life, we are drowning. You just try to keep up.”
“You beat yourself up. We as parents are the hardest on ourselves. You never relax and you are 24/7 in fight mode.”
“At night I worry an alarm won’t go off. You choose not to sleep than risk it.”