In March 2023, 14-year-old Rylie Erbacher visited Washington, D.C. for a one-of-a-kind experience. The teen, who has spinal muscular atrophy (SMA) type 2, was one of just 10 people nationally who won the Rare Artist Award this year. According to reporting from KCRG, this meant that Erbacher’s artwork was displayed during Rare Disease Week on Capitol Hill—an amazing opportunity not just to showcase her talent, but to raise rare disease awareness.
For Erbacher, awareness is something that she holds close to her heart. Growing up with SMA has not always been smooth or easy. From undergoing surgeries as supportive care to trying to educate others about what life with SMA means, Erbacher has committed herself to making a change in the rare disease world.
Her art, entitled “Colors of Courage,” exemplifies this commitment. A multi-colored pastel lion with piercing green eyes peers at viewers from the canvas. To Erbacher, the lion is representative of the strength and resilience of the rare disease community; the colors represent courage and change, the beautiful multifaceted nature of people with rare diseases coming together to create a better and more equitable world.
Sometimes having a rare disease can be scary or isolating. Even talking about it can be frightening or overwhelming, says Erbacher. But finding ways to get your stories out there can be more rewarding than you could ever imagine.
What is Spinal Muscular Atrophy (SMA)?
An estimated 1 in every 10,000 people has spinal muscular atrophy, a rare genetic neuromuscular disorder. SMN1 mutations cause motor neurons (a type of nerve cell) to die in the spinal cord and brainstem. When these nerve cells die, muscles no longer receive nerve impulses. The muscles then weaken and degenerate. There are different types of SMA (which you can see by clicking the link above). Since Rylie has SMA type 2, we’re going to share some symptoms and characteristics here.
SMA type 2 usually manifests between 6-18 months old. An estimated 30% of people with SMA have this form. While children may, at some point, be able to sit independently, they usually lose this ability by their teenage years. SMA type 2 is also characterized by dysphagia (difficulty swallowing), tremors, scoliosis, respiratory difficulties, and inability to walk or stand without assistance. Treatments include tracheostomy, gastrostomy, physical therapy, respiratory support, and Evrysdi, a new medication.
