Spinal Muscular Atrophy patients in the UK are ‘let down’ and struggling to access vital treatments | UK News

The charity SMA UK believes the lack of treatment access is due to a range of factors; from regional disparities, cultural and economic barriers, and gaps created by the transition from paediatric to adult care.

For Adele Farquhar, even basic physical activities are a daily struggle.

At three years old, she was diagnosed with Spinal Muscular Atrophy (SMA), a genetic condition that causes muscle wastage and weakness.

Now, at the age of 50, she’s in a wheelchair, and relies on assistants to “be her arms and legs”, otherwise, she says, “I can’t live an independent life”.

SMA is a serious condition that worsens over time; and while there are no cures, there are several new treatments to help manage the symptoms.

But knowledge of those treatments, and the support available to SMA sufferers on the NHS, is not well known.

According to the charity SMA UK, approximately one-third of adults living with Spinal Muscular Atrophy are missing out on important support and treatment, because they’re not aware of what’s available to them.

Adele says she only heard about the medication she’s now on by chance; because her niece, who works in a hospital, mentioned it to her.

She says she feels “very let down by the system”, adding that “there are a lot of medical professionals who don’t know about SMA; how it affects you, what you need, and what will make your life easier”.

SMA UK thinks this lack of treatment access is due to a range of factors; from regional disparities, cultural and economic barriers, and gaps created by the transition from paediatric to adult care.

But Channa Hewamadduma, neurology consultant and service lead at Sheffield Teaching Hospital, explains that care has changed a lot since Adele was first diagnosed nearly five decades ago.

“Many adult SMA patients when they were diagnosed several years ago perhaps were told that there is no treatment available, and you just need to get on with your life… but the landscape has changed, and SMA services have changed, now we have disease-modifying treatments for adult SMA patients.”

But SMA UK isn’t just focused on getting treatments for people already living with the condition.

It’s thought a baby is born with SMA in the UK every five days, and the condition is the number one genetic cause of infant mortality.

Treating patients early – before symptoms result in the irreversible death of motor neuron cells in the brain and spinal cord – can dramatically limit the physical impacts of this condition.

But unlike many countries in Europe, the US and Australia, we don’t routinely screen newborns for the genetic condition.

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Portia Thorman’s son Ezra was diagnosed with SMA at four months old.

“Now he lives with complex needs. He’s lost the ability to swallow so he’s entirely peg fed. He can’t walk, stand, or reach, he needs a ventilator overnight,” she said.

She’s now an advocacy lead for SMA UK, which is calling for routine screening, and pre-emptive treatments for babies with the condition.

“If we can treat babies early enough, pre-symptomatically ideally, this completely changes the development of the condition; it halts the progression of the disease. So essentially, if you treat the condition early enough you see these children are eating, walking, running, leading normal developmental patterns.”