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The DESSH Foundation is a non-profit organization created and led by patient families. As family members of individuals living with DeSanto-Shinawi Syndrome, we know first-hand the challenges DESSH patients will encounter in their lives and the impact of these challenges on their caretakers, loved ones, and those with whom they interact each day. For those in our community, DESSH is not just a rare genetic disorder associated with autism, cognitive limitations, and developmental delays – it is a lived experience, one that we walk with every day.
Ultra-rare diseases like DESSH – which currently has fewer than 200 diagnosed patients worldwide – do not attract a lot of attention from the medical community. This is not surprising. The amount of money necessary to conduct family clinics, collect medical data, run laboratory testing, develop orphan drugs and gene therapies, and other efforts toward treatment can cost hundreds of millions of dollars. What team of researchers or pharmaceutical companies would want to invest their time and money into such a rare disease? For some, this statement may be discouraging. For us, as members of the DESSH Foundation, this only serves to drive and motivate us out of love for our family members. Our determination has already taken us farther than we could have imagined.
We began our foundation as a patient advocacy 501(c)3 non-profit organization. Through social media outreach and our website, we discovered new patients and connected doctors and families all over the world. We made our presence known among the science and medical communities at national conferences, lobbied Capitol Hill for rare disease research funding, and held fundraisers and awareness events across the globe. And it doesn’t stop there. We are proud of the role the DESSH community has played in research. The DESSH Foundation built relationships with top researchers and institutions studying the WAC gene, the underlying cause of DESSH, and established a medical advisory board made up of these doctors. The creation of the board itself cultivated collaborations between research disciplines that have already led to joint publications. The DESSH Foundation hosted its first annual family clinic at Washington University in St. Louis in 2022. Due to the determination of our patient families, clinicians across four specialties met patients in person to collect patient data and biosamples for an ongoing natural history study. We hope to better understand this syndrome to empower our loved ones with DESSH to live their best life.
So what do we do at the DESSH Foundation? We raise awareness, we provide support to families, we connect researchers studying DESSH, and we fundraise so that we can continue to fulfill this mission. More broadly – we provide hope and we do not give up. We know that the more connections we make, the more possible it will be to provide a better future for our loved ones with DESSH. They deserve it.
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