Dash4DESSH 2024

This past spring our lives shifted - Rye was diagnosed with an incurable ultra-rare genetic disorder called DeSanto-Shinawi Syndrome (DESSH). When a parent hears that their child has a rare condition the overwhelming uncertainty is perhaps the hardest to bear. There’s no clear road map, no proven treatment plan. We didn’t just grapple with the diagnoses themselves, but with the unknown health and wellbeing in Rye’s future. As parents we are so hopeful for our child’s growth, milestones, and a bright future. But when faced with conditions that have no cure we are left wondering: Will Rye ever walk, talk, or live independently? Our grief has had many layers. It’s the grief of a future that looks so different from what we imagined, of dreams that may never be realized, and of an uncertain and difficult path ahead. But our heartbreak has been filled with love - a fierce, unconditional love that is driving us to fight, advocate, do more for Rye even when exhausted, and ultimately fill ourselves with hope! And what we are learning is that our imaginations have left out some of the best parts of what will be Rye’s journey - the love, the joy, the compassion, the spirit, and connection to his community that will make him feel love, seen, cherished, celebrated, and happy!

We Did It! Our goal was to raise $8,000 to cover the cost of a cell line, which is essential for advancing our understanding and treatment of this ultra-rare genetic disorder. We are so honored to have reached this goal and further the research of DESSH! We are blown away and thankful beyond words!!!  To those that have already donated, THANK YOU! — although these words don’t seem adequate for the gratefulness we have for you all.

Let's Keep Rising: While we have reached our initial goal, if you feel inclined to continue to support financially, please do so knowing that support goes directly to the second cell line and other important efforts of the DESSH Foundation. The foundation had an overarching goal of producing two cell lines, so anything donated over our goal will go towards the second cell line. These funds are still critical and important.

The DESSH Foundation was started and is run by a small but mighty group of volunteer parents.  These parents of the early DESSH kiddos asked Dr. Shinawi "So what can we do?" and he told them bluntly, "You, the few parents, must organize and you must advocate. That is the only way change will happen."  And so these parents, along with their other burdens, did just that. We know these people personally now.  Their kiddos' stories are here. These pioneering parents are a small but very mighty group and punch above their weight class. They do their work via the DESSH Foundation to find and support research, organize clinics (like Rye just went to at Washington University in St. Louis) with doctors volunteering their time to advance our knowledge of what can be done for kiddos with DESSH, and advocating in the halls of government for things like more funding and clearer paths forward for research on ultra-rare diseases. 

Why this Research Matters: DESSH is an ultra-rare disorder that affects physical and cognitive development. Families like ours are affected by the daily challenges this syndrome brings. We need to find more answers to the ‘Why’ of this disorder. A cell line will allow the foundation’s team of researchers to study the genetic mutations that cause DESSH and test potential therapies. Cell lines are incredibly important in research because they provide a consistent, reproducible way to study biological processes, diseases, and potential treatments. This specific cell line can be genetically modified to simulate the mutations associated with DESSH, and can be used to introduce or correct these mutations. Cell lines are a foundation of modern biomedical research and are key to developing new treatments that could improve the quality of life for those affected.  Once a cell line is created it can be used in perpetuity!

Why cells lines are so expensive: Creating new cell lines from human tissue can be expensive and time-consuming. However, once established, cell lines are easier and more cost-effective to maintain for research experiments. Our DESSH children have provided tissue samples when attending the DESSH Clinic in St. Louis. These samples can be painful and scary for these children. Help us make their efforts worthwhile for furthering knowledge of DESSH.

How you can help: We are asking for donations of any size to now push beyond our initial $8,000 goal. Our family pushes daily to give Rye his best fighting chance for a thriving life. Rye works so incredibly hard every single day, with a smile on his face, love in his soul, and a spirit that we are lucky to experience. DESSH is ultra rare, which means that it’s up to our grassroots efforts as a DESSH community to facilitate any research and forward momentum to happen. Please join us in helping make that happen!

Together We Are Strong! Let's keep rising!

Rye (along with Tyler, Katie, Asher, Easton, and his many adoring fans near and far)

Each day Rye is getting closer to walking thanks to his mom, grandparents, brothers, and many therapists!

Rye with Dr. Shinawi (who first identified this genetic disorder) at the DESSH Clinic at Children's Hospital in St. Louis, which is organized by parents involved in the DESSH Foundation. All the doctors at the clinic generously volunteer their time.