1 in 17 people will be affected by a rare condition at some point in their lives. The average patient receives THREE misdiagnoses, consults with FIVE doctors and waits FOUR years before receiving a diagnosis. Some people have to wait over 20 years to receive a final diagnosis.

My daughter Evie has a rare genetic disorder know as Creatine Transporter Deficiency Syndrome (CTD). Evie was diagnosed when she was 7 years old - we had been raising concerns since she was 2. It took 5 significant seizure events, countless doctors and specialists, hospital stays, blood tests, CAT scans, MRIs, EEGs, ECGs and even a lumbar puncture before we finally got a diagnosis.

When you're living with an unknown disease, symptoms that no one can offer an explanation for and an uncertain future, it can be very scary. When it's your child, it is terrifying. For families affected by rare disease, diagnosis is everything. Even when there is no cure or treatments, having an explanation, being able to put a name to the symptoms, connecting with other families who know what you're going through and accessing research, brings hope and a sense of purpose. It's a light in the darkness.

Genetic Alliance UK work with their membership organisations and senior decision makers in the NHS, the Government and Parliaments in across the UK to ensure rare conditions can be diagnosed faster and care for people living with rare conditions is better coordinated. They make sure the voices and needs of the rare community are heard and reflected in rare disease legislation and healthcare policy.