Oscar's fundraiser fun day & Walk for strength for Association for Creatine Deficiencies
- Kelly - is raising money for Association for Creatine Deficiencies
Story
Oscar is our amazing inspirational 6 year old son who can walk into a room and make everyone else smile with the biggest smile always on his face. He is an inspiration not only to us as parents but to others, no matter what difficulties he is faced with he always has that smile on his face.
Oscar was diagnosed with a very rare genetic diagnosis - Creatine Transporter Deficiency (CTD) in January 2023 and there is currently only 350 people in the world living with CTD.
Oscar has a difference, he has a mutation in the SLC6A8 gene which is responsible for moving creatine around the body. The SLC6A8 gene provides instructions for the production of the protein that carries energy (creatine) to cells in vital muscles and organs in the body, including the brain. Creatine transporters move creatine into the cells of the brain and muscles, but this is the part which does not function correctly in Oscars body. This process is needed to ensure that muscles and organs have enough energy to develop and function.
The symptoms of CTD are speech delay/non verbal, hypotonia, autistic traits, ADHD traits, intellectual disability, motor skills delay, seizures/epilepsy & long QT of the heart.
There are no proven cures to CTD but Oscar is on high daily dosage medication just incase some elements are passed through the brain barrier.
We are raising vital funds for the charity Association Creatine Deficiencies which will help to fuel research & resources into CTD and hopefully one day find a cure for not only Oscar but other children & adults living with this rare condition.
We are hosting a Fundraiser fun day on the 28th June with an exciting raffle, cakes & refreshments, fun for the kids includin bouncy castles, soft play, face painting and more.
The 5 of us including Rufus the dog will be participating in Walk for strength, a sponsored walk on the 27th July at the historical landmark Stonehenge.
Thank you for your support and making a contribution towards creatine deficiencies, you are helping to make a change.