New advances bring hope
Specialty care for children with rare disorders
AS A NEUROLOGIST specializing in the care of children with complex neurologic diseases, I’ve seen firsthand the profound impact that compassionate and personalized care can have on the lives of children and their families. Whether conditions have exciting new treatments, or in situations where treatments have yet to be developed, a personalized and multidisciplinary approach allows for optimal care.
September is Duchenne Muscular Dystrophy Awareness Month—an opportunity to increase understanding of this condition. Commonly referred to as DMD, it’s one of the most common forms of muscular dystrophy diagnosed in childhood.
DMD is a rare genetic disorder that primarily affects boys. The condition is caused by changes in a gene responsible for producing dystrophin, a protein that helps keep muscles strong and healthy. Without enough dystrophin, muscles gradually weaken over time.
Early signs of DMD often appear in childhood and may include difficulty running, climbing stairs, jumping or getting up from the floor. As the disease progresses, muscle weakness can affect mobility and eventually impact other parts of the body, including the heart and lungs.
Early intervention by a team of specialists—physicians, therapists, genetic counselors and social workers—is crucial. A collaborative approach ensures that many aspects of the child’s health and well-being are addressed, improving their quality of life.
Specialty care allows for the use of advanced diagnostic tools and treatment options tailored to each child’s unique needs. For example, recent breakthroughs in gene therapy for both DMD and spinal muscular atrophy, or SMA, have revolutionized care, offering hope to families who previously had limited options. These treatments, however, require careful coordination among multiple specialists who understand the nuances of these diseases.
Moreover, multidisciplinary, specialized care provides invaluable support to families. The journey of caring for a child with a complex neurologic disease is fraught with emotional, physical and financial challenges. Our teams not only provide medical care but also connect families with resources and support networks, helping them navigate the complexities of their child’s condition.
Duchenne Muscular Dystrophy Awareness Month is an important time to recognize the resilience of individuals and families affected by DMD while also celebrating the scientific and medical advances that continue to improve care and offer hope.
