Jo-Jo has Gillespie syndrome, of which cerebellar ataxia is a part. Her mother, Susie, shares how fundamental Sheffield Ataxia Specialist Centre’s only paediatrician has been in gaining Jo-Jo a diagnosis of GS and ataxia, and imagines what a Specialist Ataxia Centre for children could do.
“Our six-year-old daughter Joanna, or Jo-Jo as we like to call her, has Gillespie syndrome. She is a happy little girl with a sunny nature. She loves music and is often heard singing loudly at the top of her voice, making up her own songs. She loves fashion, dressing up and looking chic; she always comments on everyone’s outfit, giving them the thumbs up or thumbs down!
Jo-Jo continually amazes everyone around her with her determination and sense of independence; her drive to get on with life and join in with her peers. She attends a main stream primary school in Derbyshire, where she is doing really well despite the obstacles someone with her condition faces – she always tries so hard. She is a popular character with staff and pupils alike.
Treatment from others
Jo-Jo is often treated by adults as a bit of a novelty, on occasion well-meant jokes have been made about her “drunk driving” when she’s walking in her frame; otherwise they keep a polite distance. Children meeting her for the first time are wary, they just don’t seem to know how to play with her. Her walking frame is a quite literally a barrier to intimacy. They quite often don’t want to hold her hand at a party. Children are too fast moving and she can’t keep up.
I suspect no one, including us, as parents, can truly appreciate the challenges Jo-Jo faces day to day. We either underestimate her capabilities, much to her frustration or, the next moment, too much is expected, such as chatting at the same time as steering through a doorway in her wheelchair, for instance.
Each year we are faced with justifying local authority funding for one to one support and specialist equipment in school. It is so important to be able to present a clear and robust argument outlining what we believe to be essential for her welfare and learning. This is very difficult without a clear understanding of her condition, particularly regarding cerebellar ataxia. As long as ataxia is misunderstood or unheard of, it will continue to mean very little on an application form or to an educational review panel.
What level of independence Jo-Jo will eventually achieve, we just don’t know. Will she be able to live alone one day, or will she still need to live with us? What will happen when we become too old to care for her? What will her health be like in the future? We don’t even have a clear idea of the expected life span of someone with Gillespie syndrome. The oldest known person with GS we are aware of (from scientific papers) is around 40 year old.
A specialist centre?
For me and my husband, Ben, the last five years have been a stressful time. It took us five years to obtain a diagnosis, during which time various different doctors attempted to discover the cause of Jo-Jo’s unusual symptoms. We attended many appointments, some needlessly, that at the time caused us all a lot of stress and worry.
Eventually, thanks to support and information provided by Ataxia UK leading to a referral to the Specialist Ataxia Centre at Sheffield Children’s Hospital, the diagnosis of Gillespie syndrome was finally confirmed by genetic testing. I suspect that without Ataxia UK we would still be in the dark concerning Jo-Jo’s condition. But still, we have no idea how to treat it.
Scientific research and awareness campaigns can fill in the gaps and raise the profile of ataxia; generous donations and fundraising are essential to help to make this happen. But more than anything, a Specialist Ataxia Centre for children would further support Jo-Jo’s health and welfare – possibly even help with treatments and cures.
A Specialist Ataxia Centre could help with this. That would be such a worry lifted: we could plan for the future.”