The story of Austin
Our son Austin was born with a large head and big eyes, low muscle tone and was silent. He was beautiful. Everybody would comment about how lucky I was that I could take him anywhere as he was a silent baby. “oh you could go to a posh restaurant with him!” and laugh. However, as a mother of a baby that doesn’t cry you realise that something isn’t right. As he developed we knew something was very wrong as his low muscle tone made it difficult for him to reach his milestones like lift his head up, crawl or walk. He did get there, but it took a very long time. At the age of 18months we pushed for genetic testing, and 6 months after they tested him we got the results back to say he had PTEN Hamartoma Tumour Syndrome which causes among other things, autism and cancers. This wasn’t a big surprise. As soon as the geneticist told me she was testing for this, I researched it and knew this is what he had as he ticked all of the boxes.
Since the diagnosis we have been on a whirlwind of a journey. Having a rare genetic disorder you quickly become the expert in the room and it can be difficult to get the right help, treatment and therapies for your child. We raised £10k to take Austin to the Cleveland Clinic in America as they have a specialist PTEN clinic. We wanted to speak to doctors that had first hand experience of other patients with the condition. The trip was invaluable and we got a lot of insight into how to help our son.
Since he was 5 years old we have been battling with the local authority to get him an EHCP. Having such a rare condition that no one knows about makes it hard to get the right help. However, after 18months and a costly legal battle, Austin now gets all of the therapy and help he needs.
Austin is now 11. His condition means he will always be non verbal, have low tone and over grow. Since the age of 10 he has started cancer screening as well. He has a severe learning disability (an IQ of approx. 50) but we give him everything in our power to give him the best life he can have. He is happy. He loves his iPad, horses, chocolate, rollercoasters and his trampoline. He has taught us so much about what is important in life. We take pleasure in the small things and celebrate every tiny achievement. Austin has taught us all that communication is far beyond words. This journey has made us strong, taught us not to give up and to fight for what is needed. The world is a better place for having Austin in it and we love him more than life itself.