James was a delightful Wellington toddler when his family were told that he had a rare disorder. In fact, so rare that there was no formal diagnosis. James was three years old when he began to lose his ability walk, his eating caused choking episodes and he was incredibly tired yet couldn't sleep. His legs caused him nerve pain and his eyes would lose focus. James's body was fighting a rare disorder that was baffling paediatric neurologists and the medical world. Within six weeks of going to the doctor James was tube feed through a mic-key in his stomach; within six months he was in a wheelchair; within two years he had passed away. James was Rare, he didn't fit the norms which meant he didn't fit many criteria for support.
Travelling this journey of rare disorders is isolating, exhausting, frustrating and it feels like there is no equality. The opportunities for testing, for medication or medication trials and for support services are either not there, or we have to fight hard and justify why our precious child deserves tests, treatment or support.
When you have a rare disorder, you don't fit tick boxes. This automatically places you on the outer and everything you need becomes what feels like an impossible battle with our own health services. The access to assessment, and treatment is severely limited compared to peers overseas and seeing this is heartbreaking as a parent. The daily grind of parenting a child with a rare disorder is exceptionally high, and the impact on siblings and the wider family goes unheard.
Rare Disorders NZ is the ONLY organisation in New Zealand that understands what it is like living in the word of rare disorders. They are the voice so many of us don't have at a time that is draining. Rare Disorders NZ are the advocates who will fight for the rights of those living with rare disorder to have equitable rights to medications, testing and services, to be a voice for those who are living in this complex world. Everyone living with a rare disorder deserves improved healthcare, they deserve to know that they matter, they are heard and they are cared for just as much as anyone else.