Our darling son Theo is the most extraordinary little person who for the past two and a half years has carved out his own, unique trail! He is the inspiration behind Theo's Village and here is his (and our) story.
Like so many other beginnings to beautiful stories, ours began in a tumultuous and challenging way. Since the moment Theo arrived there was more uncertainty and question-marks around his development and health. We spent most of his first year of life traveling from specialist to specialist trying to understand why his tone was so low, why he was having subclinical seizures, and why his development was delayed. A month after Theo's 1st birthday, genetic testing confirmed the presence of a mutation in Theo's TBCK gene. He had inherited a copy from each of his parents and "TBCK Syndrome" was his diagnosis.
When we got his diagnosis, it was predicted that TBCK Syndrome impacted less than 50 people in the world and Theo is one of them. One of TBCK Syndrome's largest concerns is epilepsy. By the age of 2, most patients will be battling seizures. In combination with TBCK patients having severely low tone, the combination with seizures and risks of respiratory issues and feeding issues making everyday living often challenging. Because TBCK Syndrome is such a recent discovery, only being discovered formally in Spring 2016, the majority of the known cases are very young children, but there is limited research.
Through Facebook, we were able to start a group to unite families impacted by TBCK Syndrome. That number has grown from just us to over 95 members and estimated around 50+ kids. Seeing firsthand the experiences of the other TBCK Families and all of our struggles with this challenging condition led us to starting The TBCK Foundation. Formally called, Theo's Village: The TBCK Foundation, but now shortened to The TBCK Foundation for simplicitiy and clarity.
The TBCK Foundation's mission is to educate, advocate, and advance research for families impacted by the neuro-genetic disease, TBCK Syndrome. In our first year, we have launched an on-line fundraiser, have an upcoming 5K called Race For Rare Kids, and we have our First Biannual TBCK Conference this November.
We are humbled and inspired by the generosity and support of the people around us that we lovingly call, "Theo's Village" as it is the "village" that stands behind Theo and alongside our family in order to give him and other kids like him the best life possible. You are an integral part of that! For a journey that never bores us, always teaches us, and for a little boy who inspires us- we know our work is just getting started.
Visit our website: www.tbckfoundation.com
Follow: @TheosVillage on Instagram