Ride For Reggie

The little legend in this photo is Reggie, his mum Amy and dad Sean. Reggie has an extremely rare condition called Phelan-Mcdermid Syndrome (PMS) which only has 2100 cases confirmed worldwide and only 8 cases confirmed in his home country of Australia. To put this in perspective, Reggie is 1 in 3.85 million people worldwide and 1 in 3.075 million Australia wide with PMS!Phelan-McDermid Syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene. PMS is sometimes called 22q13 Deletion Syndrome.PMS can cause a wide range of medical, intellectual, and behavioral challenges. The most common characteristics found in those with PMS are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and epilepsy. There is currently no cure or treatment specifically for PMS, but they know how to manage many of the symptoms and researchers are working hard to improve our knowledge of PMS and to find drugs and therapies that can help people affected by PMS.So on Friday the 19th of July I’m riding from Newcastle to Muswellbrook which is roughly 115 kilometres to raise awareness for PMS and to raise money for Reggie and his family to support the ongoing cost of living with this rare condition. Any donation received is greatly appreciated and is going to a great family in Reggie, Sean and Amy!