Understanding ataxia

Joanna, known as Jo-Jo, is a “happy little girl with a sunny nature” and, says Mum Susie, “she loves music and can often be heard singing loudly at the top of her voice”.  The six-year-old also has a keen eye for fashion and likes to give a thumbs up or down to let people know whether she approves of their outfit!

For Susie and husband Ben, the last five years have been a stressful time, culminating in a diagnosis of Gillespie syndrome – an incredibly rare condition presenting with unusual characteristics.  These include large pupils which are unresponsive to light, delays in reaching developmental milestones like rolling over or sitting unaided and a lack of co-ordination, due to cerebellar ataxia (which also affects spatial awareness and balance).

“Thanks to support and information provided by Ataxia UK, leading to a referral to the Ataxia clinic 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.” Says Susie.

For Jo-Jo, everyday activities such as eating, dressing, playing and even sitting still in a chair are a huge challenge, with bumps and bruises a daily occurrence.  She attends a mainstream primary school in Belper, Derbyshire, where she is doing well, but each year her parents are faced with justifying to the local authority, the funding for one-to-one support and specialist equipment in school.

“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,” says Susie.

Ataxia UK fund research into treatments and hopefully a cure, for one or all of the types of ataxia, as well as raising the awareness of ataxia both to the medical profession and the wider public.  Your support through Childlife, helps them to continue this vital work.

For more information about Susie and Ben’s struggle for diagnosis for Jo-Jo and how it affects her daily life, see our full interview here.