Meet Sophia

Sophia was nine months when diagnosed with Spinal Muscular Atrophy (SMA) type 1. SMA is a progressive condition that leads to loss of movement and muscle wasting.

Sophia was nine months when her parents, dad Gennadiy and mom Vicky, noticed that their baby daughter wasn’t reaching the usual milestones.  Although she was a happy and alert baby, she did not sit, did not crawl and did not like being on her tummy. As their concern grew, they decided to run some extensive tests, when they were given the life-changing diagnosis, a week before their daughter’s first birthday.

Spinal muscular atrophy (SMA) is a condition that negatively affects the child’s movement and leads to muscle atrophy. There is no cure for this rare disease and life expectancy is short.

“We were told to take her home, love her, but don’t get used to her,” says Gennadiy.

“As a parent you face having to watch your beautiful child lose their abilities to move, eat and breathe”.

Sophia was not expected to survive beyond the next 12 months. Nowadays, Sophia is seven years old and she has unexpectedly lived much longer. Thanks to an innovative treatment, the disease’s progression has slowed down and Sophia’s quality of life has vastly improved.

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

Having been almost paralyzed, Sophia’s health has definitely improved after this drug treatment. She has regained strength in her arms and hands, she has gained new abilities like sitting, playing and she could drive a little power wheelchair.

Nevertheless, Sophia still needs a great deal of support with all the physical aspects of her daily life. Due to her muscle weakness, she has developed respiratory system problems, 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 acknowledge that she is alive because of the new drug, called Nusinersen. Even so, it is not a cure – and nobody knows the long-term effects 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 be repurposed and help boost the effectiveness of, and add to, emerging treatment strategies for this devastating rare disease. Medical research is a glimmer of hope that families look to in their darkest hour of need.

Read more about Spinal Muscular Atrophy.
You may view the original article here , as published on Action Medical Research for Children.
Photo credit: Action medical research for children.

Meet Sophia

iagnosed with Spinal Muscular Atrophy, Type 1
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