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Marathon

 

Following the success of our 5K, there are many analogies to what we did on 10/21 and how we live our daily lives. In our search for a cure and living with medically fragile children, it is important to remember that our lives are more of a marathon and not a sprint. If you look at it all it is overwhelming and the importance of pacing is key to survival and also our success. We also know the importance of passing along the baton when we need a helping hand. Our lives work because of the people who surround us whether it is the dedicated nurses, physicians, therapists, or those amazing friends who will take our calls when we are breaking. Our lives could not function without our intricate network of friends, family, and professionals. I know that this is the case with me as well as many others in the community.

When it comes to breakthrough therapies, it can take decades to realize all of our hard work. At any moment in our journey parents, we as parents could easily become fatigued. Our dedicated physicians and research partners may move on or retire. Nothing is constant and change is really the only certainty in this world of ours. Special needs and families truly understand that chain reaction something as simple as a cold can affect.

Translating all of this to our efforts, we realize that our organization must live on matter what. Our information must live on matter what. Our momentum must live on no matter what. It is a tall order to support a non-profit while at the same time being a parent to one of our beautiful STXers. Burnout and tragedy may affect our roles at any moment. This is one of the reasons we have set up our organization the way that we have with transparency and information sharing. Even though we are a small group we try to keep each other in the loop of everything that we do.

In the same spirit, we chose a registry that is institution agnostic that is incredibly well funded (self-funded). It has the support of gene counselors so that we may empower parents worldwide with the information needed for them to make the decisions that are best for their families. In addition to storing surveys, we have an option to store stem cells and fibroblasts so that we can encourage and entice study in STXBP1 across our globe. We have done this so that no matter where the road takes us the legacy of our information and learning can live beyond each of us. We want to put the power in the hands of all of us so that our families are set up no matter where this road takes us. We hope to cross the finish line with all of us together.

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