Support Team Taylor on World Rare Disease Day!

Hello friends and family! It is that time of year again! In just one week, our family will celebrate World Rare Disease Day. It is hard to believe that it has been four years since our family learned that Taylor was impacted by a rare genetic condition called PURA Syndrome. At the time, there were only about 180 individuals with the diagnosis WORLDWIDE. She now joins a community of almost 500 #PURAPerfect children and adults and 300 million individuals diagnosed with a rare disease or disorder around the globe.

Taylor has had an AMAZING year! She has made tremendous progress toward walking and it is so exciting to see her running around our house and neighborhood. Kindergarten is bringing new challenges, particularly with communication, but Taylor is eager to learn and we are working with her teachers and therapists to assist her in communicating her needs and wants. She loves to sing with the praise band at our church on Sunday mornings and has the best time riding her pony, Fritz, at Shining Hope Farms each week.

As most of you know, I took over as the President of the PURA Syndrome Foundation a little over a year ago and it has been one of the most rewarding, challenging, and exhausting experiences. The work we do is so important and also deeply personal. And we’ve had a great year!! We hosted a Virtual Conference in June of 2021 covering a range of topics from research development, therapeutic interventions, seizures, caregiver mental health, parent and specialist panels, and so much more. We also launched regional meet-ups at the Conference which will continue to occur quarterly moving forward. The Conference was our most well-attended event yet. We funded two grants in 2021 related to our Global Patient Registry and Global Biobank, both of which are critical for the long-term study of PURA Syndrome. A third research grant has been awarded and will be announced soon (stay tuned)! We have been busy partnering with other rare disease organizations, researchers, and clinicians and the Board of Directors has been engaged in strategic planning over the last few months. I am very excited about sharing the vision and plan for the Foundation for the next three years. In a rare disease organization, it often feels like you are standing at the bottom of Mount Everest without a guide and sometimes without the proper gear, but I continue to be amazed at how the right people consistently show up to train, champion, share resources, and generously give in order to help us on our journey.

As we have done for the last three years, our family is raising money to support the mission of the Foundation this year. I have set a goal to raise $5000 by March 16^th, 2022 and I believe Team Taylor can reach it! Just to give you an idea of how your donation can help, five thousand dollars can fund 1) half of a small research grant, 2) public access for TWO published research papers, 3) the technical needs of our virtual conference this year, or 4) the translation of a half day of our virtual conference into another language such as Spanish or French, allowing individuals who do not speak English to access information about PURA Syndrome. Eric and I still have a difficult time putting into words how grateful we are for your continued support year-after-year and hope you will join us in celebrating World Rare Disease Day on February 28^th!

The Shanks Family