"We thought our girl was just clumsy - actually she had rare painful condition"
- 7 months ago
A "clumsy" girl who falls over 30 times a day has been diagnosed with a rare condition - which leaves her in constant pain.
Grace Bucknell-Smith, nine, was diagnosed with hereditary spastic paraplegia and KIF1a – genetic conditions which cause stiffness of the legs.
The youngster is in daily pain and has a constant tickling and aching sensation in her arms, fingers, knees and toes.
The progressive disease causes spasticity to take over the legs which will eventually stop Grace from walking.
She currently uses a frame and wheelchair and walks on her tiptoes.
Her mum Jo, 45, hopes to raise £22k for a live-saving surgery which involves cutting the nerve rootlets in the spine.
Jo, a teaching assistant, from Peterborough, Cambs., said: “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, 51, a team leader at a manufacturing company, noticed Grace was slightly behind on her milestones but didn’t become worried.
By the age of three, Grace was falling over a lot and struggled 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’. 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.
Grace joined mainstream school but had a large learning gap from the other students her age.
After “exhausting everything” Jo took Grace for genetic testing which finally revealed she had Hereditary Spastic Paraplegia and KIF1a in spring 2020.
It is a progressive disease which causes weakness and stiffness in the leg muscles - and there is no cure.
Jo said: “We had our answer but couldn’t do anything about it but just watch these diseases take over her body.”
Jo has had to watch her daughter’s mobility deteriorate – despite trying orthotic boots, ankle and foot splints, serial casting, Botox and physiotherapy.
She now uses a frame to help her walk and stop her falling over as often but has a wheelchair for when she gets tired.
Grace Bucknell-Smith, nine, was diagnosed with hereditary spastic paraplegia and KIF1a – genetic conditions which cause stiffness of the legs.
The youngster is in daily pain and has a constant tickling and aching sensation in her arms, fingers, knees and toes.
The progressive disease causes spasticity to take over the legs which will eventually stop Grace from walking.
She currently uses a frame and wheelchair and walks on her tiptoes.
Her mum Jo, 45, hopes to raise £22k for a live-saving surgery which involves cutting the nerve rootlets in the spine.
Jo, a teaching assistant, from Peterborough, Cambs., said: “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, 51, a team leader at a manufacturing company, noticed Grace was slightly behind on her milestones but didn’t become worried.
By the age of three, Grace was falling over a lot and struggled 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’. 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.
Grace joined mainstream school but had a large learning gap from the other students her age.
After “exhausting everything” Jo took Grace for genetic testing which finally revealed she had Hereditary Spastic Paraplegia and KIF1a in spring 2020.
It is a progressive disease which causes weakness and stiffness in the leg muscles - and there is no cure.
Jo said: “We had our answer but couldn’t do anything about it but just watch these diseases take over her body.”
Jo has had to watch her daughter’s mobility deteriorate – despite trying orthotic boots, ankle and foot splints, serial casting, Botox and physiotherapy.
She now uses a frame to help her walk and stop her falling over as often but has a wheelchair for when she gets tired.