Meet the Board
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 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 hope that future families find some sort of comfort and support when they find that there is a growing 17q12 community.
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.
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!
My son Sebastian (7) has the 17q12 deletion. We received the diagnosis when Sebastian was 5, while looking for answers about his medical issues. The diagnosis answered important questions for us, but also made us aware of other health issues that we didn’t realize that Sebastian had until we screened him. Learning he had a rare syndrome was both illuminating and scary. We attended the 2019 Family Conference and it was a great relief to meet other families, to share information, and to make friends. My husband and I realized there is still so much that is unknown about these syndromes and that it was important to be as involved as possible. We subsequently hosted an art auction fundraiser to help raise money for the 17q12 patient registry, and have been working with Drs at Yale to help start a research project to study the immune system of patients with 17q12 deletion/duplication. I’ve worked in tech & marketing for 20 years and I hope to use my skills to be of help to the 17q12 Foundation board and community, and to help us all work towards more treatment options and answers.