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 and live to the fullest. In the big picture, I hope that the Dup15q community to become more recognized. That research and treatment options will gain the funding that it needs to help future generations.
What advice do you have for newly diagnosed dup15q families? My advice for a newly diagnosed family of a child with Dup15q, is to allow yourself the time to have lots of different feelings. The journey is a marathon, not a sprint. You will go through times of sadness, anger, resentment, fatigue, frustration, and self-pity, but do not rest there. Always keep moving in your feelings and moving towards the future. Talk about your disappointments, but also talk about the great things happening. Because if you only focus on the bad, that is what your world becomes. Your child will do great things in their life. It may not be how you envisioned, but to see the world through their eyes is something unbelievable amazing. Just keep believing!
Dup15q has definitely changed our lives. We have changed our plans for the future and how we decide what we do each day. Every day brings new experiences, challenges, and struggles. Sometimes it feels very overwhelming, and like we can’t move on. We struggle with medical choices, schooling, therapies, and basic wellbeing. More than the bad or challenging, is the amazing people we have met along the journey. Bringing awareness to the community and watching the rallying support of friends has been the most amazing part. We still struggle every day but having people who support us, and Alexander is the best.
