The international day of giving wrapped up with SETBP1 Society exceeding our goal of $25,000! Our SETBP1 community rallied together to raise $29,519! This was made possible by the 180 total donations, the 160 unique donors and the 11 individual Facebook Fundraisers. These funds will go towards the establishment of our first ever SETBP1 Multidisciplinary Clinic (MDC).

We have several SETBP1 specialists including Dr Siddharth (Sid) Srivastava at Boston Children’s Hospital in Boston, MA in the US and Dr Bregje van Bon at Radboud Medical Center in Nijmegen, the Netherlands. They have both seen over 10 individuals with SETBP1-HD, as well as, individuals with SETBP1-related disorder. We also have Dr Wendy Chung at Columbia University in New York, NY in the US who heads up Simons Searchlight so she is familiar with the SETBP1-HD phenotype and has seen individuals with SETBP1-HD and SETBP1-related disorder, as well. Dr Jessica Duis at Children’s Hospital Colorado outside Denver, CO in the US has also seen individuals with SETBP1-HD and SETBP1-related disorder. The SETBP1 Multidisciplinary Clinic will be unique as we will not only have 1 specialist at a specific hospital, we will have a team of specialists at a hospital helping our SETBP1 families. This team will address various aspects of the impact of SETBP1-HD and SETBP1-related disorder. This team will partner together and learn together to help improve our understanding of both SETBP1-HD and SETBP1-related disorder and also provide guidance and recommendations to help ensure our kids and families are getting the support and care they need.

Our next steps are to work directly with the SETBP1 community and our Medical and Scientific Advisory Board to identify the greatest needs to address by the MDC. We will also work together to identify the best location for the first SETBP1 MDC.