By: Julie Dirnbeck
When Mallory invited me to write a blog post about our family’s journey with 10q26 and the HADDS Foundation, my initial response was an emphatic “YES!” I feel so strongly about the 10q26 families being a part of this organization and finding a place here. Our story will share similarities with others but I know we all walk our own journey to diagnosis and beyond. That being said… let’s go back to the beginning.
It was a typical pregnancy with only noted differences of less movement in the womb compared to her ninja brother and slowed growth in the last trimester. She had a bit of slow start at the hospital but overall, no major abnormal concerns came up. When we brought her home, she was a dream. She didn’t cry but grunted when she was hungry. She gained weight well and our family fell in love with the newest member.
At 6 weeks, I noticed abnormal eye movements and her head turning to one side. We were referred for therapy and to see an Ophthalmologist. Over the next 3-4 months, more seemingly unrelated health concerns continued to arise and more developmental differences began to show. She was poked and prodded what felt like endlessly. We were referred to a geneticist who reported that no particular diagnosis came to mind but they would run more tests. I left that visit still feeling like this could all be a fluke but deep down having a sense that there was something that explained all that was going on.
"I left that visit still feeling like this could all be a fluke but deep down having a sense that there was something that explained all that was going on.
The Friday afternoon before Father’s Day weekend, I got the call. The genetic counselor assigned to our family had our results. She did not wait for me to sit down, get a pen, or even put her on speaker so my husband could hear. She started spewing things like “missing piece of a chromosome”, “associated heart conditions”, “mild-moderate cognitive impairment” and much more. She seemed to be speaking as fast as possible to get done with this call and start her weekend. I asked her to slow down and let me get paper and my husband. We listened in absolute shock.
Due to it being during the pandemic, we were offered a virtual appointment with the geneticist in 2 months and referred for immediate cardiac testing to rule out any serious abnormalities. At the time, we were still isolated from family and friends and didn’t know enough to really even have something to share with them. We told our parents and then waited to tell the rest of the world once we had met with genetics. Our genetics appointment was anti-climatic. They weren’t able to tell us anything I hadn’t already read online. It was extremely rare. No major studies were done on it. Nothing to do but find out how it affects her and continue with therapies. We were given no hope of any large-scale research or community.
"I felt like our family was on an island . . . no one truly knew what our day to day looked like or what it felt like to walk in our shoes."
I felt like our family was on an island. Between the pandemic and getting this rare diagnosis, I felt lost. While our family and friends were supportive when we began to share the news, no one truly knew what our day to day looked like or what it felt like to walk in our shoes. I had found a Chromosome 10q26 deletion group on Facebook and joined that but it still felt so lonely knowing I only had far off hopes of someday meeting another family with the condition. At times, reading what other families were dealing with caused more stress and anxiety than comfort.
In the Spring of 2022 when our sweet girl was 2, another mom posted a study they were involved in to the 10q26 Facebook group. They were studying a gene my daughter was missing, EBF3, in Houston, TX. We were accepted to the study and referred to the HADDS Foundation for more information on how EBF3 affects those who are missing it or have a variant. I was floored. There were doctors who were interested, who wanted to know more, who felt this group needed more information. I found out that we could participate in an international conference for the EBF3 HADDS Foundation. After hearing we could see the doctors in clinic and meet other families, we made plans to go to Texas.
The conference was incredibly informative and well executed. We met other families, heard from experts, participated in research, and got to see Dr. Chao and Dr. Wangler in clinic. It was overwhelming and yet, the biggest breath of fresh air I could have breathed. All of these families had similar stories and experiences. They were walking in our shoes. Doctors were studying, exploring the ins and out of the gene, and yet were the warmest individuals, giving hugs and reminding us all that she “has a deletion, it’s only a part of who she is”.
I wanted to know more as we were told by genetics in our city that our daughter didn’t have HADDS because hers was a 10q26 deletion, not a variation of just the EBF3 gene. I was given paperwork from the researcher team to better explain the connection. For the first time, I had an infographic to easily show others the array of symptoms and systems affected. I prepared a document from the researchers’ FAQs page and other resources, and submitted it to the HADDS Foundation for consideration to include on their website. Without this formal recognition of 10q26 families by the Foundation, I still felt unsure of whether or not our family belonged here. When they published this page to better explain the relationship of the diagnoses to the Foundation website, I finally felt like, yes, we belong here. Yes, this is our community, too. Yes, we don’t have to walk alone.
"My biggest message to other families with 10q26 and HADDS is, you aren’t alone. You belong. Others understand your journey and are here to walk it with you."
My biggest message to other families with 10q26 and HADDS is, you aren’t alone. You belong. Others understand your journey and are here to walk it with you. I have met some incredible individuals the last 3 years that I would not otherwise have met. I have grown in my empathy for others walking a rare journey. I know there is more to our story in the future but we have come a long way. I have the honor to live in awe of this amazing daughter that I have the privilege to raise. I firmly believe she isn’t here to be an inspiration, even if at times, she is inspiring. She is a child who wants to be loved, learn, explore, and be a kid. I am here to support her wherever her journey takes her. Her will, determination, joy, curiosity, and love of life and others make her who she is. She also lacks a bit of chromosome.
"Her will, determination, joy, curiosity, and love of life and others make her who she is. She also lacks a bit of chromosome."