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 for Just4Children to provide our beautiful little girl’s post SDR rehabilitation?

Grace is aged 10 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, 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 400 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, behavioural issues and 70% chance of optical nerve atrophy and serious eye conditions. She attends a SEN school.

With some tremendous support recently we successfully raised the funds for an imminent private SDR operation at Alder Hey which will take away spasticity, pain, and spasms this involves fixing and blocking the nerves that are damaged in the spine. We have been advised by the Neuro team this is only part of our journey to a better quality of life, intensive post operative rehabilitation therapy is crucial. It will help Grace battle on to reach the best she can be in strength, stamina and co-ordination whilst we continue to fight degeneration. We hope to attend regular block sessions of intensive therapy sessions not available on the NHS in and around the UK and abroad, sample new therapies and get specialist equipment and adaptations offering Grace new experiences and some of the opportunities and freedom as children of her age.

We are so eternally grateful for the generous support so far, it had touched us and reassured us in our most wobbly times that we are not isolated and alone from the society because of our differences. The future may be uncertain with Hereditary Spastic Paraplegia and KIF1a but with your help we can fulfil so many possibilities.

Thank you for reading, Grace and her family.

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