When Adrienne Vollmer first learned that her son Graham had spinal muscular atrophy (SMA), she was shocked. At the time, there were no FDA-approved treatments (three now exist). The life expectancy sat at just 1-2 years old. Vollmer dove into research, seeking out options to help her son. The family was lucky enough to enroll in a clinical study and begin treatment—treatment that has vastly improved Graham’s lifespan and kept him the happy, loving boy that his parents know.
Reporting by WTHR explains that the Vollmer family recently contributed to increased awareness, and fundraising to advance research, through a walk that they held in Indiana. The money raised will contribute to the search for a cure. Although there have been significant advances in this field, working towards a cure is still incredibly imperative.
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy refers to a group of rare genetic disorders that affect an estimated 1 in every 10,000 people. Most cases of SMA are caused by SMN1 gene mutations that contribute to motor neuron death. As these nerve cells die off, the muscles become significantly more weakened, atrophied, and degenerated. Severity and age of onset differ based on the specific subtype. For example, the rarest (and most severe) type of SMA is called type 0; diagnosed prior to birth, this form is often fatal by early infancy. Symptoms include joint contractures, congenital heart defects, hypotonia, and weak respiratory muscles that can contribute to respiratory failure.
Type I, or Werdnig-Hoffman disease, is also severe. It is diagnosed near birth and is the most common form of SMA with symptoms such as developmental delays, difficulty breathing and swallowing, a bell-shaped chest, and an inability to control head movements.
SMA also has types II, III, and IV with their own symptoms. Click the link in this section’s header to learn more about each specific subtype.