Support Team Taylor

Taylor joined our family in September of 2015 and is now 2 years old. Around 4 months old, we noticed that Taylor was not holding her head up very well and quickly realized that she also had delays in other areas. We have seen a variety of medical specialists since Taylor was about 6 months old to understand what may be at the root of her delays. She has continuously received physical, occupational, and speech therapies to help her reach developmental milestones, and she has been making great progress. She is very vocal but is not saying words yet. It has been obvious to us that she understands more language than she is able to communicate at this time. She has delays in both fine motor and gross motor skills but this has not stopped her from learning how to self-feed and she is currently standing and walking with assistance. Despite her delays, she has always been happy and healthy. She loves books and music and cuddling with her family and friends. Her smile can light up a room and her giggles are contagious.

Earlier this month, we received a call from our Geneticist indicating that they had discovered she has a single deletion on the PURA gene and has been diagnosed with PURA Syndrome. This is an extremely rare genetic mutation that was only just identified and named in 2014. There are only about 200 identified cases worldwide. While this is obviously difficult news, we knew a diagnosis like this was a possibility and are now wrestling with the reality of what this could mean for Taylor and our family, as PURA Syndrome is characterized by a number of signs and symptoms, including intellectual disability and motor delays. At the same time, we are thinking very positively and with hope about her future. We do not see her any differently as a result of this diagnosis and nothing will change in how we love and care for her. Taylor is pure joy and light and love. We are glass-half-full people and choose to see the gifts that God has given to her and the meaning and purpose her life brings to us and those who meet her.

We hope you will consider making a donation to The PURA Syndrome Foundation in honor of Taylor. The Foundation was established in 2014 and is dedicated to serving, educating, and funding research for families affected by PURA Syndrome. We have a team of clinicians and researchers dedicated to research of this condition and we are working toward a global patient registry. Funds that go to the Foundation also help to support a global conference that connects families with one another and with medical and research professionals. So much more information is needed to help us understand more about PURA Syndrome and to work toward effective treatments, therapies, and potentially a cure.

Thank you for considering a donation to the PURA Syndrome Foundation and for supporting our family.

Team Taylor