Dup15q syndrome is a neurodevelopmental disorder characterized by having an extra copy of a portion of chromosome 15 in the 11.2 – 13.1 region in combination with a number of symptoms that may include hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy, including infantile spasms. Dup15q Alliance has been providing family support and advocacy to families affected by Dup15Q syndrome for over 30 years. We envision a world where families, clinicians, and advocates enable Dup15Q individuals to thrive. We are proud to continue to offer programs that help uplift, support, and engage our community by providing the basic principles that the Alliance was founded upon through a variety of resources and support options, including:
Information about Dup15Q syndrome including symptoms, diagnosis, and treatment
Educational Resources including brochures, printables, family dup15q family conferences, and webinars
Dup15q Clinics through the LADDER Learning Network
Community Connection Programs for families and siblings affected by Dup15Q syndrome.
Support and resources to navigate the various transitions of the Dup15Q journey.
Hattie's journey began with an uneventful pregnancy, leading to her healthy birth in April 2013. At 8 lbs. 14 oz., she was an easygoing and happy baby, though not meeting typical milestones. Early intervention started at 10 months but showed limited progress. At 18 months, genetic testing revealed isodicentric Dup15q Syndrome, upending their world.
Just before her third birthday, seizures emerged, escalating to over 100 daily at their worst. Daily battles ensued to manage them, resulting in numerous injuries. Despite trying various medications, relief was elusive. Ultimately, a corpus callosotomy in the summer of 2023 was performed, reducing the quantity of seizures, yet they persist daily, with the fear of SUDEP ever present.
Dup15q Syndrome also brought an autism diagnosis, developmental delays, behavioral issues, ADHD, and sleep disruptions. Hattie manages these with multiple daily medications. She attends a public school program for children with disabilities, receiving various therapies and support for her daily activities, with a need for lifelong assistance.
Despite being nonverbal, Hattie is expressive and loves cuddles, books, Taylor Swift, music videos, swimming, and dogs. Resilient and cherished by many, she enjoys immense love and support from friends and family. Joining the Dup15q Alliance has provided invaluable resources and support, yet more research is needed for this relatively unknown disorder.
Today, at thirteen years old, Hattie is vibrant, loving music, books, swimming, and family. Her smile lights up the room, and her cuddles warm hearts. Despite her challenges, she remains resilient, embodying the hope for targeted treatments and a brighter future for those with dup15q syndrome. Supporting research into this rare disorder is vital for Hattie and others like her, to potentially lead lives with fewer complications, flourishing as their happiest selves.