What are some of the biggest challenges people face when diagnosed with spinal muscular atrophy?
When faced with a new diagnosis of SMA, it is most challenging to cope with uncertainty about the future. Fortunately, the future is much brighter with several new and effective treatments, including gene therapy. Now that multiple treatment options are available, understanding the various medications can be challenging as they each have unique mechanisms, dosing, and administration protocols. Many families face barriers to specialized healthcare access that create additional challenges to receiving treatment. Patients who do not qualify for gene therapy will have ongoing physical challenges created by SMA that can significantly impact their life. Finding an experienced team of providers and therapists is essential in managing these challenges.
Are there any added challenges for patients or providers when treating a rare neurological condition?
It is always challenging for patients and providers when dealing with a rare neurological condition. For families, building a support network of community and experienced care providers will ensure you receive meaningful guidance. For providers, staying informed about the latest scientific and medical advances and engaging with other specialists and communities is critical to best serve our patients.
What advice do you have to people who are currently living with spinal muscular atrophy?
Scientific advancements have significantly improved outcomes in patients with SMA. Stay active and mobile as much as you are able and make sure your mental health receives as much attention as your physical health. Ensure your care providers are using evidence-based practices and goal-focused therapies. If you’re unsure or worried about new or worsening symptoms, always ask your medical team. Stay connected to the SMA community so you will be well-informed of resources, opportunities, and treatments as they become available.
What advice do you have for parents or caregivers of young people living with SMA?
You are the expert in your child and their needs, so always unapologetically advocate for them. Allow them to do typical kid things whenever possible and focus on what we can do rather than what we can’t do. Use your medical team and community resources to address issues as they arise. In all you do for your child, it’s easy to forget about taking care of yourself, so set aside protected time and space where you can reset and unwind. We are much better parents when we’re rested!
Dr. Michelle Allen-Sharpley, MD is a physician and clinical instructor specializing in pediatric neurology and neuromuscular medicine. She currently practices at Cedars-Sinai in Los Angeles, CA and is a faculty member at The Board of Governor’s Regenerative Medicine Institute.
