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.