After Tabitha Wright heard the news from the doctor, her heart dropped. Her daughter Aspen had just been diagnosed with spinal muscular atrophy (SMA) type 1, a rare genetic disorder. When the doctor left the family alone, Tabitha began searching for more information on SMA online. But what she found worried her. What would happen to her daughter? How could Tabitha ensure the best outcome for her daughter?
According to News3 WRBL, Tabitha decided to take action. First, she reached out to other families of children living with spinal muscular atrophy. Since patients and caregivers are the experts on their condition, this helped provide Tabitha with support and more information. Next, the Wright family worked to ensure that Aspen was given the medication that she needed. This has helped Aspen, who is now four years old, able to walk, and is overall a vibrant and happy child.
But the most important part of this journey has been raising awareness and, through this, advocating for improved newborn screening policies. Newborn screening is a public health program. Children are screened at birth for a variety of endocrine, metabolic, and genetic disorders. Newborn screening is not standardized; not every state tests for each nationally recommended condition. In Georgia, where the Wright family is from, SMA was added to the newborn screening panel just a few years ago in 2020. Says the Wright family, newborn screening is an important tool in early detection and treatment.
While they are raising awareness, the Wright family is also raising funds to assist with medical costs associated with Aspen’s treatment. If you would like to support the Wright family, you may donate to the GoFundMe.
A Brief Overview of Spinal Muscular Atrophy (SMA)
In most cases, SMN1 gene mutations cause spinal muscular atrophy, an inherited neuromuscular disease that causes muscle weakness and atrophy. There are multiple types of SMA, which differ in symptoms and manifestation:
- Type I / Werdnig-Hoffman disease: This form is considered to be the most severe and is often diagnosed at or soon following birth. It is also the most common form, appearing in around 60% of patients. Symptoms of type I SMA include developmental delays, difficulty sucking and swallowing, inability to sit or support the head independently, and predisposition to collapsed lungs or respiratory infections. This form may be fatal within two years of birth, though medication advances have helped improve lifespan.
- Type II: In type II SMA, symptoms often manifest between six to eighteen months of age. This form often correlates with an inability to stand or walk independently. Those living with SMA type II often live into adulthood.
- Type III / Kugelberg-Welander Syndrome: Symptoms manifest after a child is eighteen months old, and often between early childhood and adolescence. Mild muscle weakness, difficulty walking or climbing stairs, and frequent respiratory infections are hallmarks of this subtype.
- Type IV: This is the rarest form of SMA and often occurs in adulthood. Symptoms may include tremors or twitching, breathing issues, and mild muscle weakness.
Currently, there is no cure for SMA, but the gene therapy Zolgensma has become an important treatment in recent years. Other therapies include Spinraza, which can halt disease progression, and Risdiplam.