5 years ago our son was diagnosed with a very rare DHDDS Genetic mutation which causes his learning difficulties, autism and epilepsy. This disease was so rare at the time that even scientists could not answer any questions to share light into what the future looked for our beautiful boy.

Only recently, a study was done on 25 cases worldwide, where we learned that in most cases the disease might be progressive, meaning our son could loose his mobility and cognitive ability over time. Our beautiful boy and most children with this condition, struggle each day to do the most basic tasks that we all take for granted, he has very poor balance and I constantly have to watch him fall or not be able to use a climbing frame, his hands tremble as he holds a drink, he can't yet communicate a word and the worst is when he is poorly and we have to guess what is paining him. We struggle to live a normal life as a family of 5, due to environmental factors being too overwhelming for him, and most of the time he doesn't understand what he is doing and why.

We constantly are providing as much therapy as we can to teach him the most basic life skills, as right now there is no cure. But if he is struggling now, what will life be like when the disease gets worst? He really is the biggest fighter, considering how many times we have had to take bloods from him, hundreds of hospital appointment, or giving him an intensive stem cell treatment for hope of helping him, but he can't do the fight alone, he needs your support now more than never to aid find treatment for this rare disease.

Scientists hope that through drug repurposing or new treatments we could find a way of replacing the defective molecules with the right ones or avoid lipidic storage in neurons. If we can achieve this, they predict that we will see an improvement in overall symptoms. But first they need to research these mutations, to gain a proper understanding of them, and we cannot do this without your help.

Our initial aim is to raise £100,000 to help fund research and expedite treatments. Longer term we hope to look at RNA therapies, which we hope can one day cure this disorder. Please help our rare disease warriors in their battle. The faster we raise money the brighter the future will be for all those living with DHDDS mutations. Any size donation will make a difference, and if we surpass our goal, we will put the extra funding towards our other scientific projects.

Please donate to Cure DHDDS today and help bring rare diseases into the light. Thank you for your support.

For more information about DHDDS please visit our website www.curedhdds.org.

Cure DHDDS is a registered charity (1202643