3 years ago 16 year old Trystan’s life changed forever. He was devastated to learn he would one day lose his ability to walk. Fast forward to age 18 and they were right - he already relies on a walker. Trystan needs specialized equipment to allow him to move around his home and to function in the outside world.
In July 2016, Trystan was at Childrens Hospital for an annual check up as he had been living with Legg Perthes disease since he was 6 years old. As part of the follow up appointment his paediatric orthopaedic surgeon noticed serious issues with his balance, walking and gait. By the end of that day in July Trystan just 16 years old, had been seen by multiple specialists and had a whole new care team - all working together to try and understand the cause of these new concerning symptoms. It took almost a full year, multiple tests including MRI, CT Scans, blood tests, spinal tap and DNA testing sent to multiple labs around the world to make a diagnosis.
Spastic Paraplegia 5A. An extremely rare genetic condition that narrows his spinal cord, blocking communication from his brain to his legs. It will progress to the point that Trystan will no longer be able to walk. At just 16 years of age, he received a diagnosis that forever changed his life, and that of his siblings and parents. To date he has spent several months in hospital and is now reliant on a walker. The condition is progressing at a more rapid pace that the family expected and costs are mounting.
The family now needs to install a customized lift that accommodates his walker and/or wheelchair so he can enter/exit his home, an electric gate so he can leave the yard, and multiple renovations to the home for his safety. In addition, Trystan will need a hand controlled customized car before he can drive and regain the freedom of a regular teenage boy. None of these costs are covered by medical - to date the quotes are well over $40,000.
The picture on the right is of a healthy spine. The dark wide path down the centre is what is needed to communicate with your legs. Trystan's spine is on the left - note how the pathway narrows. As the condition is so rare, there are very few cases to guide the Polegato Family as to what comes next. Your support and love is very much appreciated.