One Step at a Time: This Organization Is Making a Difference for Spinal Muscular Atrophy

By itself, muscular dystrophy is simply a term used to refer to a group of diseases which usually target the striated muscle cells (the ones responsible for enabling voluntary movements) in certain parts of the human body, limiting the person’s ability to perform certain tasks with the affected limbs.

However, as new types of muscular dystrophies were discovered, the term quickly fell short in its scope, and new terms had to be invented to name the disease which targeted specific body parts above others. Muscular dystrophy can manifest in virtually anyone, regardless of gender or age. One form of the disease is called Spinal Muscular Atrophy (SMA), which is one of the rarest types. Though rare, organizations like Working on Walking has worked tirelessly to help spread awareness, and hopefully, raise more funds to help researchers find a cure.

Understanding SMA and muscular dystrophy

Most, if not all of muscular dystrophy cases are caused by anomalies in the subject's genome, which creates an environment in their body where the striated muscles cells cannot survive, are destroyed, and replaced by adipose tissue. Depending on the type of muscular dystrophy, patients could have a gaunt visage, coupled with the atrophy of the affected muscles, giving them a thin, malnourished appearance to the naked eye. On the other hand, those who suffer from a type of muscular dystrophy that affects upper extremities may exhibit a swollen appearance due to the replacement of striated muscle cells by adipose tissue.

Nevertheless, what most types of muscular dystrophy have in common is that they, at some point, render the person incapable of properly utilizing the affected limb. In the case of those who have their legs affected, they frequently end up relying on wheelchairs or motorized scooters in order to move around.

Spinal muscular atrophy is one of the rarest types of muscular dystrophy and consists, similar to other variations of this disease, of the destruction of muscle neurons, which in turn leads to muscle wasting. However, in stark contrast to other types of muscular dystrophy, those affected by spinal muscular atrophy have the muscle neurons affected, which are located inside the spine, and have their life expectancy shortened considerably because of this. The disease itself is caused by a defect genetic defect present in the person’s genome, specifically in the SMN1 gene, which governs the encoding of the eponymous protein, SMN. This protein is a pivotal element for the survival of motor neurons, and decreased levels of this substance can lead to the loss in the function of the aforementioned neurons, which are located in the anterior horn of the spinal cord. The loss of neural functionality in such an important part of the body commences a chain reaction characterized by the system-wide atrophy of skeletal muscles.

Like other types of muscular dystrophy, spinal muscular dystrophy begins slow, affecting only proximal muscles that are located close to the spine, such as the torso and respiratory muscles. Nevertheless, the affliction of structures of such importance is the driving force behind the high mortality rate of the disease. Depending on the type of spinal muscular atrophy, as well as the stage in which the disease is currently situated, a wide variety of symptoms may erupt, the most common of which being areflexia of the affected structures, and poor muscle tone and muscle weakness, often demonstrated by limpness or a tendency to flop. Those who suffer from this disease will often struggle to reach development goals, such as sitting and standing and will begin initially by losing strength in their respiratory muscles, characterized by weak, constant coughing, as well as the accumulation of liquid in the lungs, followed by respiratory failure. In the most severe cases of spinal muscular atrophy, the patient may exhibit a bell-shaped torso, alongside an excessive reliance on abdominal muscles to achieve proper breathing.

Fortunately, advances in medical technology currently allow physicians to diagnose spinal muscular atrophy from the womb, in the later stages of pregnancy. The partial or total absence of fetal movement, which is not attributed to any other conditions, is a good indicator that the child might be affected by severe spinal muscular atrophy, which usually results in critical symptoms after their birth, such as respiratory distress and poor feeding, frequently resulting in the child’s death a few weeks after being born. This is in stark contrast with the milder cases of spinal muscular atrophy, which frequently manifest during the patient’s adulthood, and that develop across several years, where his or her life expectancy is not reduced or modified in any way.

The organization that aims to make a difference

Working on Walking is a group established in 2014 that pursues to make a significant change for those who are struggling with spinal muscular atrophy by pursuing fundraising efforts, as well as by spreading awareness of the rare disease that affects 1 in 10,000 inhabitants. The organization is focused on educating the masses on the life-threatening condition, in hopes that, through increased public support, the quality of life of these brave men and women might be improved, and that, someday, a permanent solution to this condition might be discovered.

This organization is 100% volunteer-based, which means that the donations they receive are completely devoted to the cause. No WoW official takes a salary for the services they perform in the name of the organization. Instead, by channeling every single cent of the donations to furthering our understanding of this rare disease, the organization is making a tangible difference in the lives of SMA patients across the globe. Furthermore, as an incentive for would-be supporters, every donation made to this organization counts as tax-deductible charitable contributions.

The story behind the group’s inception was inspired by the tale of Alyssa Silva, an SMA patient who received her diagnosis at the tender age of 10. However, Alyssa didn’t let her condition to get in the way of her noble spirit. So, from this young age, she dedicated her efforts to raise funds for the cause by selling lemonade at her stand. Her initial goal was to make $100 selling lemonade, which she would then put forward towards supporting the cause. However, since selling lemonade at 50 cents a piece was not the most lucrative options, little Alyssa had to reinvent herself if she wanted to reach her goal.

To this end, the young child began to sell handmade postcards and calendars, as a suggestion from her occupation therapist at the time. In this manner, she would bolster her fundraising efforts, while also practicing a wide range of motions through her drawing to counteract the effects of her disease. It was at this time that Alyssa founded the venture that still lives on to this day, Working on Walking.

It seemed like an eternity ago when, back in 2000, Alyssa set out to make her first $100 in the name of spinal muscular atrophy. Through her tireless efforts, not only did she achieve her goal, but she also made more than 100 times of her objective.

However, more than money, Alyssa knew that the real objective was raising awareness in order to spread the cause of those who struggle with SMA.

So she kept doing just that, and her cards and postcards serve as an immortal reminder of what even the smallest individuals can achieve if they put their minds and body to it, regardless of their health.