Sophia's story - Spinal muscular atrophy

Sophia is a bright, kind and cheeky little girl with an innate ability to draw people towards her, says her proud dad Gennadiy.
Most of all she is a fighter, having spent most of her life defying the odds against a devastating rare disease – spinal muscular atrophy type 1, which leads to deterioration of the spinal nerves.  

Between the ages of six to nine months, Gennadiy and wife Vicky had noticed their baby daughter wasn’t reaching the usual milestones. Although she was happy and alert, she did not sit, did not crawl and didn’t like being on her tummy. Following tests, they were given the life-changing diagnosis a week before her first birthday.

Spinal muscular atrophy (SMA) is a progressive condition that leads to loss of movement and muscle wasting. There is no cure, and tragically babies born with the most severe types usually die at a very young age.  

Sophia was not expected to survive beyond the next 12 months. “We were told to take her home, love her, but don’t get used to her,” says Gennadiy. 

The news was unthinkable: “It broke us. It broke our spirit. It broke our hearts.”  

Now seven years old, Sophia has defied these desperate odds. A new drug – the first, and currently only approved treatment available – has arrested the disease's progression and vastly improved Sophia’s quality of life. But it’s a treatment that the family, and others like them, have had to fight very hard for access to. 

Prior to this, Sophia’s health had been deteriorating dangerously – she’d lost head control, the ability to move her arms and she would frequently choke on her food.  

Having been almost paralysed, she has regained strength in her hands and arms, and gained new abilities. She sits, plays and drives a little power wheelchair.

Sophia still needs a great deal of support with all the physical aspects of her daily life. And, due to her muscle weakness, her respiratory system doesn’t work well, so a simple cold can easily become a chest infection requiring hospital treatment. “Everything is influenced by SMA. But thankfully, because of treatment, she is that much stronger,” says her dad. 

Sophia’s parents are in no doubt that she is alive today because of the new drug, called Nusinersen. But it is not a cure – and nobody knows the long-term effectiveness of the drug. The future remains uncertain, and more research and new treatments for SMA are still very much needed. 

Action Medical Research, together with SMA UK, is currently funding new research at Keele University. This work is investigating if another drug, already used for other conditions, could help boost the effectiveness of, and add to, emerging treatment strategies for this devastating rare disease.