Alexander – Dup15q Family Story

August 16, 2022

I met my husband Dan in 2010 at a part time job we both had at the time. It was pretty much love at first sight, as we got married 5 months after we started dating. We both knew we wanted kids right away, and immediately started planning for our future family. The road to parenthood was a rocky one with infertility, stillbirth, and challenges. We were blessed with our daughter Elizabeth in October 2013, and knew we wanted to give her a sibling. We got pregnant and thinking about what our future would look like with 2 kids in under 2 years. Well in January 2015 we lost our son Nikos. We were shattered, but I knew that I couldn’t stop and so I told Dan that we needed to start trying again right away. And in December 2015 we welcomed our son Alexander, and finally we felt complete. That the world was coming full circle and things were finally settling down.

After Alexander was born, things were blissful. I had my 2 wonderful kids, my awesome husband, and our life felt complete. At 6 months old, I spoke to our pediatrician about my concerns of Alexander not meeting milestones. We immediately began testing and started therapy with our local children’s hospital and help me grow. After some initial testing and therapy, there was not enough progress being made so the doctor ordered a micro-array. When those results came in just 7 days after Alexanders first birthday, I remember feeling the weight of the world. My mind went through the whirlwind of what now, what does this mean, and I cannot deal with this change. Over the next weeks, months, and even year was a non-stop time of doctors appointments, therapy appointments, research, and planning. The hardest part for me was the feeling of going alone, and constantly having to explain to doctors what Dup15q is.

What is your hope for the future your loved one? For the Dup15q community?: My ultimate hope for Alexander is to live independently with support in place. Each day I strive to allow Alexander the same experiences as his sister and typically developing peers. To experience life