Written by the HADDS Foundation Board of Directors
November 16, 2023
Welcome to the HADDS Community! If you’ve found your way to the Blog, chances are that you or someone close to you has received a HADDS diagnosis. Perhaps this information is very new, and you are experiencing many overwhelming feelings while you navigate all the new information. As a contributor to this blog post, I can tell you that I’ve been there too. I can also say with confidence that you’ve found your way to a supportive community of individuals with HADDS and related conditions and their families. We are here for you!
It can be hard to know where to start or what to do next after you’ve received a HADDS diagnosis. Below we’ve added some information and resources to help you find information for yourself and for your medical professionals, details on how to connect with other families and individuals in the HADDS community, details on reaching out to the medical team involved with HADDS research.
General Information about HADDS
The medical professionals who relayed the HADDS diagnosis may have given you a summary of HADDS based on what they could find from published medical literature. Reading those papers on your own can be overwhelming, but there is summary information available as well as some great videos.
Check out the HADDS Resources area of hadds.org for some easy to understand information and literature about HADDS. The information packets and one-pagers are great to share with family and medical professionals to help explain the syndrome. Additionally, there are some YouTube videos on the HADDS Channel that can help with an understanding of the syndrome and common characteristics. One thing to remember: every individual with HADDS will present slightly differently, and not all HADDS symptoms will be seen in all individuals.
As a parent of a child with HADDS, after we received our diagnosis one thing that was helpful for me to understand was that because the condition is genetic, it was there at the moment of conception. Before we had received the diagnosis, there were so many lingering questions around if we could have done anything differently or did something to “cause” the medical issues we were seeing. Our family’s perspective is that having the HADDS diagnosis and a name to the syndrome doesn't change who our child is or define our child; it's just part of who they are at a highly specific DNA level. What was helpful for us was to reframe the diagnosis. Having additional information on the medical characteristics associated with HADDS gave us the opportunity to proactively seek appropriate medical support.
Community
Everyone is going to need a different level of support from others while they learn and process information on the HADDS diagnosis. Here are a few different Facebook groups:
The EBF3 HADDS Foundation page which is mostly information sharing from the Foundation,
A private forum Facebook page for individuals with HADDS and direct family members
If you want to raise awareness or share with your professional community about HADDS, there is a LinkedIn page as well.
The forums are a wonderful opportunity to connect with other HADDS families in a personal way. Additionally, there is an International HADDS Conference held every two years for the community to gather in-person to make social connections and learn more about the syndrome. The next one is happening July 24-27, 2024 in Houston, TX, hosted in the Ting Tsung and Wei Fong Chao Foundation Conference Center located on the 7th floor of the Jan and Dan Duncan Neurological Research Institute where active HADDS research is being conducted! A plenary schedule as well as hotel information are typically released during HADDS Awareness Month on HADDS.org, the February before the conference.
For me personally, it was so helpful to connect virtually with others in the HADDS community who had relatable experiences and could provide information on their journey. We have been able to connect with other HADDS families to ask questions, share achievements and discuss challenges. The online community has also helped me find people where I can be open and honest with the feelings related to diagnosis and being a disability parent. Prior to this, I felt very alone, going down the rabbit hole Googling what all of my child’s medical conditions might mean when we didn’t have an underlying diagnosis.
Medical
From a medical standpoint, having an official diagnosis can help you educate medical professionals involved in your child's (or your) care and be proactive with referrals to additional specialists or testing.
Having a diagnosis might also help therapists (like OT, PT, Speech) get a bit more specific with goals and plans once the medical characteristics of HADDS are more understood. The information packets and quick guides are great to share with family and medical professionals to help explain the syndrome. Odds are, your loved one may be the first person your physician or therapist has encountered with an official HADDS diagnosis. This information can help deepen their understanding of the syndrome, guide their research, and assist them in helping your loved one reach their full potential.
Clinic Visits
One thing that’s unique about having an ultra-rare diagnosis that is fairly newly discovered is that the doctors who are experts in HADDS are available to be seen in the clinic. HADDS Clinic appoints with Drs. Chao & Wangler are available on a first come, first serve basis one Friday a month. To schedule, contact Marcus Brisker-Richardson at the Blue Bird Clinic at Texas Children’s Hospital: (832) 824-8806. https://thebluebirdcircle.com/pediatric-neurology-clinic.
Participating in Research
Though the diagnosis information is fresh in your mind, and it might be too soon for this, one thing to consider down the road is participating in research related to HADDS. Because it’s a fairly recent discovery and diagnosis, the information available is constantly evolving based on what is being studied and what is gathered from research information from those diagnosed with HADDS.
You can learn more about the Hsiao-Tuan Chao Lab here: https://www.bcm.edu/research/faculty-labs/hsiao-tuan-chao-lab. To learn more about active EBF3 HADDS research, visit: https://www.bcm.edu/healthcare/clinical-trials/h-44396 or contact the lab directly at Chao-Lab@bcm.edu / (832) 824-8806. While the Foundation doesn’t conduct research studies, they work with Dr. Chao’s team to communicate the latest publications as well as share the most up-to-date research participation details for the EBF3 HADDS community as well as its “sister” 10q Duplication studies on its Research page.
Finally - You!
Hey you - yes you! Don't forget about yourself during this time of diagnosis, and think about what support you might need. A diagnosis comes with a lot of feelings, and some that might creep up way after the diagnosis. In addition to the diagnosis itself, there are unique challenges that come with being a disability parent. Don't dismiss what you might be feeling -- you matter and your mental health matters!
If you are looking for someone to connect with, you can always reach out to info@hadds.org. This general mailbox is monitored by the volunteer HADDS Board of Directors, all of whom have a personal connection to HADDS. We would love to hear from you.
