What a difference a diagnosis makes! For the family of Charlie, they had 10 years of questions. They waited 10 years to understand why their son could not walk or talk. Why he had intellectual disabilities and developmental delay. It was heart-breaking to wonder all the time what had happened, how to help him, what this meant for his future. And then they got the diagnosis of PURA syndrome shortly after Charlie's 10th birthday and everything changed. They had a community who understood their family, there were peers for Charlie to meet and play with, and doctors who could finally begin to give the answers they had so longed for. Charlie's mother said: "The day we got his diagnosis of PURA syndrome was one of the happiest days of my life. The PURA Syndrome Foundation instantly connected with me with a community that I had never even dared to dream I would someday have. And now I realize that Charlie is actually perfect given his genetic makeup - PURA perfect."
Five years ago, no one in the world had ever heard of PURA syndrome. Recent advances in genetic testing led to the diagnosis of the first PURA patients globally in 2014. Published papers from these cases, the formation of a parent group and the collaboration of a global research team has seen more than 300 children and young adults now globally diagnosed with PURA syndrome. With raised awareness of the condition, new cases are being diagnosed almost weekly. Expectations are that patient numbers will continue to grow with continued advances in genetic testing, yet so little is still known about this condition. How do we improve the quality of life for patients and their families?
The PURA Syndrome Foundation is the only organization dedicated to supporting families and funding research focused on PURA syndrome. We provide families with support and assistance, connecting them to a global community. This community offers them support, educational resources and access to information about the latest medical research supporting PURA syndrome.
What is it like to find this connection after waiting so long for answers? Suddenly you are no longer alone. It is in coming together that we find the strength to endure the hardships, learn about the wonder of others and create a place to celebrate success.
Together we are family.