A global foundation supporting education, research and families.
PACS1 Schuurs-Hoeijmakers Syndrome (“PACS1”) is a rare genetic mutation of the PACS1 gene, located at the 11th Chromosome. PACS1 is characterized by global developmental disability, sensory processing disorder, epilepsy and heart issues, vision and feeding problems, among other challenges, and a recognizable face with a wide and joyful smile. There are 67 diagnosed cases around the world, but researchers and physicians believe there are many more children yet to be diagnosed, which is done through Whole Exome Sequencing.
Through the magic of the internet, families from all over the world have been able to connect and support each other, and are working together to start a foundation, which will support awareness, research and help researchers and families learn from each other, through family and scientific meetings around the world.
Early diagnosis is so important to helping our children thrive and grow to their greatest potential. By formalizing our efforts, we hope to bring awareness of PACS1 Syndrome to encourage more and quicker testing, to bring information, support and connection to families with a new diagnosis, and to connect with researchers who are doing amazing things in this fast-moving and ever-changing field of genetics. PACS1 Syndrome is unique because the mutation is exactly the same in every child (c.607>T, p.Arg203Trp), and researchers are excited about the possibilities – to help not only kids with PACS1 but many other diseases as well!
PACS1 Smiles mission is “to serve as a collaborative center of education, support and research for children and their families living with PACS1.” We are starting this YouCaring campaign to raise $15,000 in order to establish a 501(c)(3) non-profit organization in 2018. This will allow us to raise funds and formalize our efforts. Funds will be used for accounting and attorney fees for initial startup; creating an online new patient “tool kit” and other documents for prospective researchers to learn more; web design and hosting costs for the first year; logo, design files, and marketing materials; and, planning of the second annual family and scientific gathering to be held in 2019. Any funds not used for start-up efforts for PACS1 Smiles will be rolled into the non-profit as seed money.
Thank you so much for your contribution towards our $15,000 goal. No amount is too small! Donate to PACS1 Smiles here
The Global Parents of PACS1 Smiles
To learn more about PACS1 please visit: