When thinking about the ways that people living with SMA [spinal muscular atrophy] interact with the health care system as adults, it depends on the severity of their disease, but we hope that all patients with SMA have at least a neuromuscular care center as a medical home. This is a complex disease that affects multiple systems, so it needs good interdisciplinary management to optimize quality of life and outcomes.
We don’t just need to diagnose the disease. We also need to manage all the potential complications: the impact on function with things like physical and occupational therapy input and rehabilitation as well as assistance devices for maximal interaction with the world such as ambulation or power wheelchairs for those who aren’t able to ambulate independently. We must also be thinking about respiratory support and be proactive rather than reactive in terms of potential complication, and we must ensure that people have extra respiratory support if they need it while they’re sleeping. We must stay ahead of the respiratory failure through techniques such as cough assist, chest physiotherapy, and other techniques that can help with pulmonary hygiene.
We must also be thinking about the orthopedic complications and trying our best to avoid development of contracture and scoliosis as much as possible through bracing and stretching, physical therapy, and all the other techniques, which can help in maintaining joint integrity and spine integrity to optimize the quality of life of the patient. If somebody is relatively mildly affected with SMA, they may only need a once-a-year visit with this care team to still be doing well, generally, in terms of their function.
More severely affected adults often need much more frequent interaction with our health care system where they’re sometimes coming to clinic as infants if they’re rapidly progressing up to monthly or every couple of months, which may be related to some of the feeding concerns and other things that we’re trying to stay on top of as much as possible. Eventually, most get to a fairly stable place, so we may feel comfortable seeing them twice a year or once a year in terms of their care.
There is then the whole concept of emergent care needs as well, which is a huge issue for this disease. Many patients have frequent respiratory exacerbations, with have acute or chronic respiratory failure requiring extra medical attention in the emergency department, which often includes admission to an intensive care unit setting many times for a long period before they’re able to recover and go back to an outpatient care experience.
We sometimes have patients in the hospital for months on end with their respiratory concerns. This can be a significant burden on the person themselves, their caregivers, and the health care system in terms of optimizing outcomes with this disease.
Consultant: Alexion, Audentes, AveXis, Biogen, Cytokinetics, Genentech, Momenta, NS Pharma, PTC Therapeutics, Sarepta, Scholar Rock, WaVE
Research support: Alexion, Astellas, AveXis, Biogen, CSL Behring, Cytokinetics, Fibrogen, Genentech, Pfizer, PTC Therapeutics, Sarepta, Summit, WaVE
Speaker: AveXis and Biogen