Grace Bucknell-Smith was diagnosed with hereditary spastic paraplegia and KIF1a (Image: Jo Bucknell-Smith / SWNS)
The mother of a young girl thought her daughter was “clumsy” because she fell over 30 times a day – before she was diagnosed with a super rare and painful health condition.
Grace Bucknell-Smith, 9, was diagnosed with hereditary spastic paraplegia and KIF1a – genetic conditions that cause stiffness in her legs.
The youngster is in agonising pain every day and has a constant tickling and aching sensation in her arms, fingers, knees, and toes.
Her condition causes spasticity to take over the legs which eventually, will stop Grace from walking.
Grace’s mum, Jo, has set up a JustGiving page in the hope of raising £22,00 for “life-changing” surgery that would involve cutting the nerve rootlets in the spine.
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Jo, 45, her husband Carl, 51, and daughter Grace, 9 (Image: Jo Bucknell-Smith / SWNS)
The 45-year-old teaching assistant from Peterborough in Cambridgeshire told SWNS: “She was clumsy. She’d fall over all the time – about 30 times a day.
“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.”
Jo and her husband, Carl Smith, noticed their young daughter was slightly behind on her early life milestones but initially believed there was nothing to worry about.
But by the age of three, Grace was falling over more and more and began to struggle with her speech.
Jo said: “She didn’t seem to speak very clearly. It was hard to understand her. We thought ‘This is a bit strange’.
Jo said her daughter would be “clumsy” and fall over around 30 times a day (Image: Jo Bucknell-Smith / SWNS)
“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 nursery also had concerns so the family took her to the doctors, but they were told she was just a bit “slow” and would catch up – and nothing showed up on tests.
The youngster joined mainstream school but had a large learning gap from the other students her age.
After “exhausting everything”, Jo took her daughter for genetic testing in the spring of 2020 which finally revealed she had Hereditary Spastic Paraplegia and KIF1a.
This is a progressive disease that causes weakness and stiffness in the leg muscles and unfortunately, there is no cure.
The youngster has tickling and aching sensations in her arms, fingers, knees, toes (Image: Jo Bucknell-Smith / SWNS)
Jo said: “We had our answer but couldn’t do anything about it but just watch these diseases take over her body.”
Grace’s parents tried everything they could think of – orthotic boots, ankle and foot splints, serial casting, Botox, and physiotherapy.
The nine-year-old now uses a frame to help her walk and stop her falling over as often but has a wheelchair for when she gets tired.
Jo said: “The main issue is the mobility and the aches and pains. 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.”
Carl and Grace Bucknell-Smith share an adorable father-daughter moment (Image: Jo Bucknell-Smith / SWNS)
Grace also struggles with sensory overloads – such as the sound of birds – and with behavioral issues.
The youngster’s parents are hoping to raise the funds for a life-changing surgery to remove the spasticity from their daughter’s legs to help her walk independently and rid her of the daily aches and pains.
Jo said: “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.
“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 the best chance of mobility later on.
“Without this we have been told the body will continue to degenerate and make contractures, deformities and the future will be painful. She’ll have difficulties moving around and she will depend on her wheelchair.”
Despite experiencing daily agonising pain, Jo says Grace always has a smile on her face (Image: Jo Bucknell-Smith / SWNS)
But despite experiencing daily agonising pain, Jo said Grace always has a smile on her face.
Jo continued: “Her body can’t keep up with what her brain wants to do.
“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.”
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