Grace seeks life changing SDR surgery to give her the best chance of living her life to its full potential.
Hi, I am Grace’s mum. I would like to share our journey with you and the road ahead living with 2 rare neurodegenerative diseases that currently have no cure, and I am asking will you help us to create awareness and support our beautiful little girl.
Grace is aged 9 from Peterborough. She was a thriving happy baby of 7lb 1oz who was delivered naturally 12 days late. She was a quiet content baby who only wanted mummy! just a couple of hiccups like late talking and walking but she got there and I was adamant this time I would throw away the baby books and not worry about milestones.
When Grace was 3, things started slowing right down. The nursery manager would tell us she was worried. Was it dyspraxia? Cerebral palsy? 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. We spent hours researching therapies and things we could do at home that could help our daughter.
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.
Over the last year or so we now know that Grace has the complex form of HSP, Autism, extreme sensory overload, learning disabilities, precocious puberty, seizures, behavioural issues and 70% chance of optical nerve atrophy. She attends a SEN school.
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.
“I don’t really understand what is happening and why my legs don’t work the way my friends do at our special school. I try my best to keep up though but, the Kaye frame goes out of control it mostly ends in bumps scraps and bruises. I can’t help being so determined. Sometimes I do get anxious though and Mummy, Daddy, brother and our cats try to help me with that. What I would love right now is to be able to dance and sing to my favourite film Lyle, Lyle Crocodiles song ‘on top of the world’ all the way through without discomfort and pain. I love watching it over and over!”
Thank you for reading, Grace and her family.
The SDR operation is just the start and is by no means a miracle cure. We want to prolong her ability to walk and be able to dance like any girl of her age does.
SDR surgery changes lives but we need your help!