A "clumsy" girl who falls over 30 times a day has been diagnosed with a rare condition - which leaves her in constant pain.<br /><br />Grace Bucknell-Smith, nine, was diagnosed with hereditary spastic paraplegia and KIF1a – genetic conditions which cause stiffness of the legs.<br /><br />The youngster is in daily pain and has a constant tickling and aching sensation in her arms, fingers, knees and toes.<br /><br />The progressive disease causes spasticity to take over the legs which will eventually stop Grace from walking.<br /><br />She currently uses a frame and wheelchair and walks on her tiptoes.<br /><br />Her mum Jo, 45, hopes to raise £22k for a live-saving surgery which involves cutting the nerve rootlets in the spine.<br /><br />Jo, a teaching assistant, from Peterborough, Cambs., said: “She was clumsy. She’d fall over all the time - about 30 times a day.<br /><br />"She's absolutely all over the place. She wouldn’t put her hands down when she fell down.<br /><br />“We knew it wasn’t right. It’s heart-breaking every day.”<br /><br />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.<br /><br />By the age of three, Grace was falling over a lot and struggled with her speech.<br /><br />Jo said: “She didn’t seem to speak very clearly. It was hard to understand her.<br /><br />“We thought ‘this is a bit strange’. She walked late but at three she seemed to be tiptoeing and crossing her feet.<br /><br />“The clumsiness, balance, falling over all the time and how her co-ordination was almost non-existent.”<br /><br />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.<br /><br />Grace joined mainstream school but had a large learning gap from the other students her age.<br /><br />After “exhausting everything” Jo took Grace for genetic testing which finally revealed she had Hereditary Spastic Paraplegia and KIF1a in spring 2020.<br /><br />It is a progressive disease which causes weakness and stiffness in the leg muscles - and there is no cure.<br /><br />Jo said: “We had our answer but couldn’t do anything about it but just watch these diseases take over her body.”<br /><br />Jo has had to watch her daughter’s mobility deteriorate – despite trying orthotic boots, ankle and foot splints, serial casting, Botox and physiotherapy.<br /><br />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.
