Fund raising for Ataxia UK

We have a daughter named Ella who is 27 years old now. She is Autistic and also has a very rare progressive neurological disease called ARSACS (Autosomal recessive spastic Ataxia of Charlevoix-Saguenay) a place in Canada near Quebec the French speaking area of the country.

Ella from 11 months of age was able to pull herself up on furniture but was too wobbly to walk and by the age of 18 months the Drs were worried and started doing tests such as brain and spine MRI’s under general anaesthetic because of her age and nerve conduction studies etc.

they found that her Cerebellum was atrophying (Shrinking) and her spinal cord was thinning. They didn’t know what exactly was going on. They knew eventually that it was a Spino- cerebellar Ataxia which is a neurological disease caused by my husband and I both carrying a faulty gene. There were years of medication and painful tests which are still ongoing.

When Ella was 18 when she was finally diagnosed with ‘ARSACS’ and she was approximately the 18th person diagnosed with it in the U.K. at that point. There are now approximately 50 people diagnosed with this awful condition in the UK.

The Drs didn’t know how to help her other than physiotherapy and Occupational therapy and speech therapy, walking aids etc. Lots of specialists involved! She gradually lost more and more mobility over the years.

She fell over several times a day and was wobbly as if she was drunk. Eventually she couldn’t walk at all. It was too unsafe to try.

she has recently had some callipers made and with the help of 2 carers she can make a few steps and transfer from chair to wheelchair etc.

She is in constant pain all over her body and she has after tests confirmed constant seizure activity going on in her brain. She has lots of severe migraines too. She is keen to challenge herself to take as many steps per day as possible.

As her condition progresses she is losing her fine motor skills too and starting to choke on her own saliva and slur her speech. This is the next stage of her condition. She takes longer to say what she wants to say especially when she’s tired.

Her bowel and bladder are also affected.

Ella is bright and happy and funny and makes the best of her condition.

She’ll never have any semblance of a ‘normal’ life

as she will always require full time care as she can’t do any personal care herself. She needs help in the bathroom and for all personal care and cooking and to give her the approximate 30 tablets she has to take every day. Her cerebellum continues to shrink and is affecting more and more of her body as it does so bless her heart. She is the kindest most gracious beautiful young lady you could Wish to meet. She cares about everyone in her life so much she's utterly beautiful and I wish I could give her the world because wow she deserves it and everyone who has the pleasure of meeting her falls in love with her. We’d love to raise some funds for Ataxia UK as it's a little known charity and rarely receives funding.

How amazing would it be for one day a cure to be found or a way to slow the progression of her illness. She deserves that so much! As do other people with this condition. Sometimes of course she gets down and frustrated and upset at times, who wouldn't? But she's so strong and just beautiful! We're so proud of her dealing with this every moment of her life.

She recently moved into supported living where a team of carers look after her all the time and help her with absolutely everything. Due to my own health difficulties I couldn't do it on mv own.

anymore.

she loves her computer and it has become her world because her friends are all online and she can play games with them online.

She is such a deserving beautiful young lady and she really wants to raise money for this charity and help other people x

Do you want to join me in making a difference? I'm raising money in aid of Ataxia UK and every donation will help. Thank you in advance for your contribution to this cause that means so much to me.

More information about Ataxia UK: Ataxia UK is the leading UK charity for all people affected by ataxia. We fund world-class medical research to identify causes and treatments. We help people to live with the condition by providing services, information and support that are not available elsewhere.