Jaxon was born in December 2011 and it was the best day of our lives. We were first time parents and were overjoyed that we had a happy and healthy little boy. As he began to grow and develop, we realised something was wrong. He was not meeting learning and development milestones other children of his age were. We spent many hours in the car travelling to and from specialists trying to find a diagnosis as to why he was different. Over many years, Jaxon has had numerous tests including multiple CT scans, MRI tests, visits to paediatricians which all required psychiatrist appointments to prepare him for these procedures. It did not come without heartache or tears for both Jaxon and ourselves. He was eventually diagnosed with a spectrum of autism allowing us to understand some, but not all, of his unique behaviours. He continued to have tests to determine why he was still not meeting physical millstones that a 4year old should.
In early 2019, we met with the specialist neurologist and genetics team at the Monash Childrens Hospital. We were told that Jaxon may have a rare genetic disorder but will need blood tests to determine if this was the case. He needed to have his exome sequenced, which is a specific part of his entire DNA that codes for proteins found in the body. After an agonising 6month wait, and 8years of not knowing, we finally had some news.
Jaxon has been diagnosed as having a genetic syndrome so rare it is known by the protein which is faulty, CAMTA1. There is less than 10 documented cases CAMTA1 syndrome making Jaxons condition very unique. CAMTA1 is found in the part of the brain that is responsible for the fine motor tuning of your movements, known as the cerebellum. The defect in the protein has previously lead to intellectual disability, OCD like behaviours, cerebellar ataxia and tremors. In Jaxons case, this disorder seems to affect his learning and gross/fine motor skills hence the previous diagnosis including autism and cerebral palsy.
As very little is known about this disorder, there is currently no cure for Jaxon. Working with a range of specialists is helping Jaxon have as normal childhood as possible. He is attending school with the help of special assistance programs which we are lucky enough to have funded by the NDIS government program. This seems to really be improving his overall happiness but the inability for his body to move like normal children really affects him. Physiotherapists have strongly urged us to start intensive hydrotherapy. Being a rural region, the closest aquatic centre with this capability is a 2+hour round trip. We have managed to get Jaxon to attend the aquatic centre, but he finds the environment very overwhelming and overstimulating.
We are seeking public help to raise money for a hydrotherapy pool we can build in Jaxons own backyard, where he will feel most safe and comfortable to develop his learning. We believe this will be his best chance at developing like every other child.
Thank you to everyone who has taken the time to read Jaxons story and donate