Changing the Lives of Patients with

Myotubular and Centronuclear Myopathies (CNM)

Meet Sebastian

For 18-year-old Sebastian and his family, their goals are simple: Live life to its fullest; appreciate the small moments every day; and love each other fiercely. These goals serve as the family’s compass, as together they navigate Sebastian’s world living with centronuclear myopathy.

Centronuclear Myopathies (CNM), is a group of genetic muscular disorders ranging from mild to severely affected, with symptoms manifesting from birth to late adulthood. Muscle weakness can affect ambulation to the point of requiring wheelchair use, respiratory muscle weakness often needs ventilatory assistance, and difficulty swallowing may lead to a requirement for a gastrostomy to ensure adequate nutrition. CNM is rare, estimated to affect only between 4,000 and 5,000 patients in the EU, US, Japan and Australia, and is often misdiagnosed.

For Sebastian, his symptoms were evident at birth, but a diagnosis remained a mystery for many years. After a premature delivery, Sebastian had unexplained low muscle tone and struggled to feed. In this early childhood, he was late reaching milestones and did not walk until he was three years old. He never ran with the other kids and remembers falling even when only on grass. Sebastian eventually had to change schools to one that was all on one level, after stairs became too difficult. After several years of misdiagnoses, a University of Chicago Panel test eventually confirmed CNM, using stored muscle biopsy tissue.

“Sometimes it’s hard because I don’t feel like I can stand during transitions between my chair and my bed or vice versa, so I start to stumble a little, but I am grateful for the community and the doctors working for a treatment. ” – Sebastian, living with CNM

As CNM has progressed, Sebastian has required more and more accommodations. In middle school, he began using a motorized scooter to keep up with students and to attend field trips. He also acquired a one-on-one aide and began use of a walker to transition from sit to stand and vice versa.

Today, Sebastian is in a wheelchair and continues to have one-on-one aide to help him to get to his classes across campus on time. While he has always been a strong student, it is becoming more of a challenge to keep up with homework and his course load. His father Luis said, “While Sebastian is a good student, he is growing faster than ever, and trying to adapt to his body. There is a lot of fatigue just to be him every day. It is difficult to keep up, to keep pace.”

But despite his physical challenges, Sebastian has travelled on holiday with his family, and has several talents. He is a proficient online gamer, he is an artist and has a sense of humor his mom says keeps them all on their toes. A devoted student with many interests, Sebastian is considering studying software engineering in college.

While Sebastian is the student, he has taught his family many lessons along their journey with CNM. His mom Jeanne shared, “There tends to be a pity that develops when they see a child that is not typical. Don’t assume you need to feel sorry for us. Of our three kids, Sebastian is our coolest. He is smart, ornery, artistic, talented, and just a really great person. We have learned to lean into our situation and embrace it.”

Sebastian’s dad, who spent late nights online to learn as much as he could about CNM after the diagnosis, also believes that living with a medically fragile child has come with many lessons. “I want people to know that at the end of the day, and with all of the struggles and the things you go through, this is a person who has CNM and he is a wonderful human being.” Luis continued, “We have to live day by day. The times we have with our loved ones are the most important moments we can have. It’s not an easy path, but we have to find joy. We need to keep hope for the future and find the moments to enjoy.”

On having a patient community:
“The CNM community has been a tremendous source of information and strength for us. They have pointed us to the right medical specialists and have supported us at every turn. Meeting a 30-year-old man living with CNM at a family meeting has given us so much hope and understanding about how his future could be.”
Jeanne, mom of Sebastian
“I am grateful for all the folks in the CNM community because they “get it” and are the real heroes that shape the advancement of potential treatments. The list includes the MTM-CNM Family Connection, Joshua Frase Foundation, Myotubular Trust, ZNM – Zusammen stark!, and all the doctors and parents who devote their day to day to these orphan diseases.”
Jeanne, mom of Sebastian
On living with CNM
“Living with CNM used to be weird because it limited what I could do with friends, but these days it is easier because I have known them longer and we can find something else to do that doesn’t require much activity. For example, I hung out with one of my friends a couple times at a mini mall near my house.”
Sebastian, 18, living with CNM