Hereditary Spastic Paraplegia: Peterborough family's fight to get surgery for brave Grace (9)

A Peterborough family have launched an appeal to help a brave nine year-old girl who has been diagnosed with two rare and incurable diseases.

Grace Bucknell-Smith is in need of an operation after being diagnosed with neurodegenerative progressive diseases KIF1a and Hereditary Spastic Paraplegia (HSP).

The youngster’s mum, Jo, said they were aware of only 300 other cases of KIF1a in the world.

The family have now launched a Go Fund Me page to try and raise £22,000 for the surgery

Jo said when Grace was just three, they started noticing something might be wrong. She said: “The clumsiness, balance, falling over all the time and how her co-ordination was almost non existent as was the lack of conversing and not wanting to join in, and not to mention the difficulties with toileting.

“After many doctors appointments and tests that came to nothing, Grace started mainstream school. As time went on, the isolation from others, the learning gap widening, the fascination of rolling about on the rug and opening and closing doors in class, we were told they would have external assessments carried out.

"Eye tests, hearing tests, blood tests, MRIs later followed. Nothing showed up. That was until finally we hit the 'jackpot'. Grace went to Addenbrooks for Genome sequencing.

“We now had a diagnosis. It was KIF1a and Hereditary Spastic Paraplegia. These are two rare neurodegenerative progressive diseases with no cure.

“Understandably, this was incredibly hard news. It was like opening a can of worms. We had our answer but couldn't do anything about it but just watch these diseases take over her body. We took refuge linking up with KIF1a research in New York. We now know of 300 confirmed KIF1a cases across the world.”

Since the diagnosis, the family have taken a number of steps to help Grace.

Jo said: “We have tried managing Grace's legs through orthotic boots, AFOs, splints, serial casting, botox in her calves and physio which will continue for the rest of her life but, the ranges in her ankles and legs are changing. Grace struggles to walk independently, she tiptoes, she is walking smaller distances and contractions in her ankles are forming. She uses a Kaye frame and wheelchair due to the high muscle tone in her legs which make walking difficult, tiring and painful. She has tickling and aching in her arms, fingers knees and toes everyday.”

Now experts at Alder Hey Hospital have said surgery will give the best chance for Grace. Jo said: “The neurodoctor at Alder Hey is hopeful that 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 kaye 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 with difficulties moving around she will depend on her wheelchair.”

To donate to the campaign, visit https://www.justgiving.com/campaign/gogracego