"Gráinne is our only child. She is now 10 years old. The first time we suspected anything was when she was about two years old and a developmental check indicated she didn't have as many words as she should have. We thought nothing more of it as the nurse wasn't overly concerned. Up to that point she had reached all of her milestones albeit she walked a little late at 18 months. By the time G reached 3 we had a different concern. She had started this odd hyperventilating behaviour which took us to the GP and then on to the paediatrician. Then commenced 7 long years searching for an answer, she went from possibly being autistic to having dyspraxia, to cerebral palsy to a clinical diagnosis of early on set cerebellar ataxia to a final definitive diagnosis of atypical INAD PLAN. G in that time has regressed from being able to walk, feed herself and draw to not being able to do any of those things but despite all of that she is the happiest child and every day surprises us with a new turn of phrase and is our whole reason for being.
We try not to think about the future and take life one day at a time. It is great to be a part now of the NBIA community and to hear and be able to relate to other people's stories across the world. As far as we know G is the only one in Ireland. Like everyone else we dream of a cure for this terrible disease."