'We thought our daughter was clumsy, but she actually had a painful rare condition'

A young girl who would fall over up to 30 times per day has been diagnosed with hereditary spastic paraplegia, a genetic conition that causes stiffness of the legs.

Nine-year-old Grace Bucknell-Smith’s parents thought their daughter was ‘clumsy’ after she began falling over regularly, but they knew that something ‘wasn’t right’ when it started to happen more often.

"She was clumsy. She’d fall over all the time - about 30 times a day," mum Jo, 45, says. "She's absolutely all over the place. She wouldn’t put her hands down when she fell down. We knew it wasn’t right. It’s heart-breaking every day."

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Dad Carl, 51, said by the time Grace was three she was walking but falling over regularly, and that he noticed she struggled with her speech.

"She didn’t seem to speak very clearly. It was hard to understand her," he said. "We thought ‘this is a bit strange’. She walked late but at three she seemed to be tiptoeing and crossing her feet.

"The clumsiness, balance, falling over all the time and how her co-ordination was almost non-existent."

Grace’s parents decided to take her to the doctors, but were told that she was just a bit ‘slow’ and would catch up, and that nothing showed up on her tests.

However, it was when she began school that they noticed she had a much larger learning gap than other kids her age and decided to take her for genetic testing.

In spring 2020, Grace was diagnosed with hereditary spastic paraplegia and KIF1, which the NHS says is a term for a group of rare inherited genetic disorders that cause stiffness of the legs. It is a progressive disease and there is currently no cure.

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"We had our answer but couldn’t do anything about it but just watch these diseases take over her body," Jo says.

Grace now uses a frame to help her walk, but also has a wheelchair for when she gets tired.

"The main issue is the mobility and the aches and pains," Jo explains. "Grace struggled to walk independently; she tiptoes. She is walking smaller distances and contractions in her ankles are forming. She has tickling and aching in her arms, fingers, knees and toes every day."

Jo and Carl are hoping to raise the funds for surgery to remove the spasticity from Grace’s legs to help her walk independently and rid her of the daily aches and pains - a surgery which costs £22,000 and involves cutting the nerve rootlets in the spine.

"Having the private SDR operation will take away spasticity, pain, and spasms which will involve fixing and blocking the nerves that are damaged in the spine," Jo says.

"Hopefully then, Grace will be able to walk without relying on her frame and wheelchair so much, enabling her to work on building up her muscles to give her the best chance of mobility later on. Without this, we have been told the body will continue to degenerate and make contractures, and deformities, and the future will be painful. She'll have difficulties moving around and she will depend on her wheelchair."

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Despite the pain, Jo says Grace always has a smile on her face. "Her body can’t keep up with what her brain wants to do," she adds.

"She loves Disney. She loves dancing. She wants to twirl around. She’s a fighter. I don’t want her to be in a wheelchair. I want her to be as independent as she can."

You can donate to help fund Grace’s surgery here: justgiving.com/gogracego

Additional reporting by SWNS