Everything You Need to Know About the EBF3-HADDS Foundation

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

  1. The Foundation has made it a priority to be ethical and transparent about their finances and how they are supporting and advocating for families.
  2. 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.
  3. 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.

Follow us