Hypotonia Ataxia, and Delayed Development Syndrome
Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is caused by mutations in the EBF3 gene which is found on chromosome 10q26. Its discovery just 4 years ago was thanks to researchers at Baylor College of Medicine in Houston, Texas including Dr. Hsiao-Tuan Chao, Dr. Michael Francis Wangler, and Dr. Hugo Bellen.
Symptoms
The symptoms of HADDS are wide-ranging. They range from autism-like tendencies to ataxia, developmental delays, eye and vision problems, failure to thrive, body abnormalities, a high pain tolerance, hypotonia (loss of muscle tone), speech problems, and neurological issues.
Other potential symptoms may include seizures, insomnia, difficulties expressing emotion, trichophagia, and others.
The EBF3-HADDS Foundation
The EBF3-HADDS Foundation was founded in 2019 to help raise awareness of this newly discovered rare diagnosis. The foundation hopes to support the further research of this disease and serve as a supportive mechanism for those affected. Through their work, they stand by three values.
Values
- The Foundation has made it a priority to be ethical and transparent about their finances and how they are supporting and advocating for families.
- The Foundation is committed. They are determined to make an impact and are putting all of their energy, resources, and talents of their members to use to make it happen.
- The Foundation is inclusive and collaborative. They want every HADDS family to be involved in the organization, helping to not only advance their mission but to create a network of support among those living with the condition.
It’s not just about supporting research; it’s also about ensuring that all patients and families have a say in the process and actually have access to new discoveries and therapeutic/educational resources.
Events
The foundation holds one main event each year.
Every other year they hold the EBF3 HADDS International Conference. In 2021 it will be held July 22nd-24th in Houston, Texas.
This summer, and in every alternating year, they also host a Social Clinic Weekend. In 2020 this will be held July 23rd-24th in Houston, Texas.
You can learn more about these events and what else this organization has been up to on their website.
