Today marks Rare Disease Day, a global event to raise awareness of rare diseases and their impact amongst members of the public, healthcare professionals, researchers and policy makers.
Approximately 80% of rare diseases have a genetic cause with 50% of rare diseases affecting children.
Just as rare genetic conditions are complicated, rare diseases are extremely difficult to diagnose. There are over 6,000 rare diseases and symptoms not only vary from disease to disease but also from patient to patient. Unfortunately, this causes misdiagnosis which can potentially delay a patient’s treatment adding to the challenges faced by the patient and their loved ones.
The team at Jeans for Genes Day witness first-hand the difficulties children and their families face when living with a rare genetic condition. Riley was just six months old when he had his first seizure. His parents took him to hospital and were told that he was having a febrile seizure, something that is quite common in infants and was later discharged. Over the course of the next three years, Riley had countless seizures and spent his first three Christmases on a children’s ward in hospital. It wasn’t until Riley was 3 and a half that he was eventually diagnosed with Dravet Syndrome. Dravet Syndrome is a rare genetic condition which occurs in 1:20,000 to 1:40,000 births, it is believed that the genetic fault causes abnormal functioning of the sodium ion channels in the brain which is what causes the seizures. Over time, repeated seizures can have a massive impact on children like Riley and can cause regression in their development and learnt skills.
Rare diseases and rare genetic conditions can make children and families feel extremely isolated, parents are often faced with limited information and find that medical professionals have very little knowledge of their child’s condition. Funds raised on Jeans for Genes Day allows us to provide grants to organisations to help bring affected families together and create vital information and support networks. Last year Dravet Syndrome UK received a Jeans for Genes Day grant which funded the development of a new website which provides advice and information for families and medical professionals.
Since Jeans for Genes Day began in 1995, our supporters have raised over £40million which has funded vital support and care systems for children and families affected by rare genetic conditions. Whilst we strive to help more children each year, we know that there are many more projects that need funding and with your help we can achieve this. By signing up for your free fundraising pack and wearing your jeans on Friday 22nd September, we can transform the lives of more children living with a life-altering genetic condition.