My son, Liam (4), has the 17q12 duplication. We discovered it right before Liam turned 2. We knew fairly early something wasn’t right with Liam in regard to his low muscle tone and his falling behind in reaching his milestones. Right after Liam’s diagnosis we found the Geisinger Family Meeting that was in Chicago and decided to give that a try to find more information and meet others. Unfortunately, there wasn’t a lot of information to discover, but we did meet some amazing families and together we came up with the 17q12 Foundation. I understand that this can be scary and lonely, but you aren’t alone. The board and myself are working hard to make sure there are answers for all of us, maybe not tomorrow or the day after, but one day we will have our answers.
I am a genetic counselor by trade. I became closely involved with the 17q12 family while working for Geisinger as a study coordinator for their 17q12 project. I have since moved back home to Detroit, MI but a part of my job was to moderate the original Facebook support group and that’s when I realized how much we still have to learn about these conditions. I would see posts about problems kids were having that I couldn’t find anywhere in the medical literature. I’d get asked questions that I couldn’t find the answers to. But most of all, I fell in love with the people, the stories, the challenges and the triumphs. None of us were trained to run a non-profit, but we are figuring it out as we go because we are all tremendously invested in the end goal.
Both my son, Alex age 10, and myself have the 17q12 duplication. I found out that Alex had it when he was 3 while trying to figure out a cause for his migraines. I found out about myself almost four years ago. We both have low muscle tone, some digestive issues and some learning difficulties with reading and comprehension. I want to tell everyone that is worried like I was at first upon learning about Alex's diagnosis: don’t stop dreaming for your child’s future. I am here to prove that. I have a great career and am able to raise my two children. I know I was worried that Alex would not make it to adulthood, but that is no longer a fear of mine and I hope to help others work through that fear.
I grew up in Illinois but I call California home with my husband, Brian, and our two kids, Zander (9), and Ruby (6). I homeschool my kids and do photography on the side. Our road to finding out our son, Zander, has 17q12 deletion syndrome was not an easy one, like so many other families with this diagnosis. Once we finally received a diagnosis we were still lacking answers regarding Zander's symptoms, information, resources, and a sense of community. This has motivated me to work alongside this awesome group of people in getting this organization off the ground. I run the website and social media for 17q12 Foundation, and I hope that future families find some sort of comfort and support when they find that there is a growing 17q12 community.
Our family joined the 17q12 family when our middle child, Mason, was diagnosed with the deletion during his first year of life. He is now 4 years old and, despite the challenges, Mason loves all things sports! We have been actively involved in our local chapter of the National Kidney Foundation and are excited to take the next steps with the 17q12 Foundation!