Understanding the needs of people with Spinal Muscular Atrophy (SMA) – Eleanor Beidatsch

August is Spinal Muscular Atrophy (SMA) Awareness Month. SMA is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement and affects one in 8,000 to 10,000 people worldwide. in this special guest column, Australian scientist Eleanor Beidatsch talks about her experiences living with the condition.

August is recognised internationally as SMA Awareness Month, a time to acknowledge the experiences and struggles of those of us who live with the disability and the caregivers who support us.

In spite of the lack of a cure, recent scientific advances have led to the development of four treatments for most types of Spinal Muscular Atrophy or SMA, a rare genetic condition that is often fatal. SMA affects the nervous system, causing muscle weakness and difficulty breathing and swallowing. The body does this by limiting its production of a protein called survival of motor neuron, or SMN, which is necessary for muscular strength.

Types of SMA

There are four types of SMA, with Type 0 being the most severe, where babies usually die before birth or shortly after.

Type 1 is next in severity, and most people who have it don’t survive beyond their second birthday.

In the early 90s, I was diagnosed with SMA Type 1 as an infant, and I am one of the rare ones who have lived to adulthood. Life expectancy for babies diagnosed with SMA has increased since the development of drug therapies, and the condition is less likely to degenerate as they age.

That’s what makes the death of baby Rosie Dark, just a few days before August, even more tragic. Five-and-a-half months old, Rosie died from SMA Type 1.

Rosemary was from Katanning, a rural town in southwest Western Australia not far from where I live.
It shocked me to read about Rosie, a young child with SMA who lived so close to me and died tragically young.
The reason why Rosie died was a much greater shock to me.

It was reported by the ABC that Rosie’s parents chose not to get her treatment because it was too late for it to help. According to the article, she would need to be diagnosed at just a few weeks old for any possible drug therapy to reduce the need for a power wheelchair, feeding tube, or ventilator.

In most cases, SMA patients will need a power chair as well as a respirator to support their breath throughout their lives. It has been my experience, but the treatments do help, even though I am 27 years old. I was inspired to share my experience after reading about the Dark family’s loss to help others who are facing a future with SMA make informed decisions.

Although the four drugs are mostly used in babies, they are also effective in children and young adults and are available up to the age of 18.

SMA is treated by three gene therapy drugs: Spinraza, Zolgensma, and Risdiplam, as well as Celebrex, a common painkiller that you wouldn’t think, would have an effect on SMA.

Despite the lack of research, I began taking small doses of Celebrex on prescription in 2017 and noticed clear improvements in my strength, dexterity, and breathing. Since late last year, I’ve been taking Risdiplam, an oral drug used for the rest of a person’s life, every day.

Normally, it’s restricted to people under 18, but I got it in a drug trial. After one year of daily use, Risdiplam has shown significant improvements in muscle function in 41% of patients. In my own experience, I have noticed an increase in strength and energy levels since starting the program, as well as improvements to my swallowing and breathing. To maintain as much strength as possible, I use both treatments.

The most widely used medication, Spinraza, has shown to improve muscle strength in 40% of those who receive it. The drugs are administered through regular spinal injections and are also administered to a person for their entire lifetime.

Zoolgensma is given as a one-time treatment through a catheter in the arm and is only available for children up to the age of two.

There is a problem with receiving SMA therapies, of course. Those drugs are very expensive, Spinraza’s yearly cost is $375,000, and Risdiplam’s cost is about $340,000.

In most countries, Celebrex is available on prescription regardless of age and is much cheaper.

So, if you or your child gets a diagnosis of SMA after the first few weeks of life, don’t lose heart because there are lots of options. You can always try Celebrex if the other treatments aren’t available, it’s actually quite effective.

Also Read:

• Scientist Eleanor Beidatsch aims to shape attitudes towards disability as a science communicator