Life with SMA

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Unless you know someone with spinal muscular atrophy (SMA), you might not be familiar about what life with SMA is like. This genetic condition is barely known, with little awareness, in large part because until recently so many sufferers pass away at such a young age. SMA impacts thousands of people globally, having a significant influence on their life and the lives of their families.

As a PT, DPT, MTC, and author, Jarod Carter has his own clinic in Austin called Carter Physiotherapy. Dr. Carter’s 5-year-old twins, Adelaide and Gray, were diagnosed with Type 1 Spinal Muscular Atrophy just a few years ago.

What is SMA?

Spinal muscular atrophy (SMA) is a rare genetic condition that damages motor neurons in the spinal cord. This results in muscle weakening and eventual loss of movement. It is a hereditary condition that causes nerve cell degeneration in the spinal cord. This can have an impact on the muscles responsible for crawling, walking, speaking, and swallowing. A protein called “survival motor neuron protein,” or SMN, which helps keep motor neurons alive and functioning, is insufficient in people with SMA. This results in death of the neurons and muscle atrophy.

How is SMA diagnosed?

SMA is first identified by determining whether a person exhibits any of the symptoms and indicators of the condition. Symptoms might arise within the first six months of life or evolve over time. A quick blood test can pinpoint the particular mutation that causes SMA in most cases. A rare mutation accounts for the remaining cases, which must be found through additional testing.

Different types of SMA

SMA affects 1 in 10,000 children and comes in a variety of forms.

  • Type 0 is the most severe form of the disease and develops before birth. The first sign may be a decrease or loss of fetal movement during late pregnancy.
  • Type 1 is the most common and serious form of SMA. Children with type 1 have restricted movement, an inability to sit without support, and struggle to breath, feed, and swallow.
  • Type 2 is an intermediate variant. Children with this type may eventually sit unaided but cannot walk independently. Children with type 2 may have normal life spans, depending on how severe their symptoms are.
  • Type 3 is a less severe variation that resembles muscular dystrophy. While type 3 children can often walk, most of them have some difficulty doing so.
  • Type 4 is quite uncommon. It typically begins in adolescence and results in slight motor impairment.

Importance of PT for SMA

No matter what type of SMA you have or how far along your condition is, it’s important to note how vital physical therapy (PT) is to improve your strength, mobility, endurance, and overall quality of life. And, if you or your child has recently been diagnosed, we cannot stress enough the value of beginning PT as soon as possible. Although SMA is a progressive condition if untreated, it doesn’t have to prevent you from living a full life.

PT is intended to assist patients in managing movement disorders, enhancing functional capacity, maintaining abilities, or preventing further disability. People with physical limitations brought on by SMA and other neuromuscular illnesses may benefit greatly from PT.

Physical therapists are experts in movement. By providing hands-on care, educating patients, and encouraging movement, they enhance your quality of life. Physical therapists can specifically help those with SMA in developing muscle strength and attaining the highest level of movement and function possible. Treatment is critical for children with SMA to attain the best level of independence and mobility feasible, as well as to prevent or postpone the onset of difficulties. Physical therapists are able to work together closely with the kid’s family to establish the best goals for each child based on their functional abilities and interests.

How you can help?

A person’s life, as well as the lives of those close to them, can be significantly impacted by SMA. If you’re reading this, you have the opportunity to show support, raise money, spread awareness, and advocate for improved access to resources, care, and treatment.  

Just 6 years ago, there was no treatment for this disease, and it was fatal, with most kids having type 1 not even making it to their 2nd birthday. However, thanks to remarkable advances in medicine and PT, Adelaide and Gray have already surpassed their 5th birthday. Though they have defied odds, the road ahead is not going to be easy.

Dr. Carter is working tirelessly to spread awareness of Type 1 SMA as a business owner, active contributor to the physical therapy community, podcaster, and dedicated father. Visit Adelaide and Gray’s GoFundMe page to read the Carters’ story of hope and how you can help make a difference in their lives and the lives of other’s impacted by SMA today.

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