My husband Sam and I were both born and raised in the Atlanta area and met in high school. We finally admitted we liked each other on a Christmas break in college and the rest is history. Sam works as a graphic artist and I currently teach dance, but was dancing professionally as well up until I was 4 months pregnant with our daughter, Reagan. We knew we wanted our kids to be close in age and almost exactly 2 years later, our son Bobby joined the party.
When Bobby was a few months old, we started to get a little concerned that he still had almost no ability to hold his head. He was falling behind in his milestones, but we were brushed off a bit by the pediatrician, who said we needed to give him more time and pointed out how his head was very big ( got it from me) and that that might be why. We pushed for a neurology consult, who brushed us off as well and said to come back in 3 months. We waited 1 month and I had a complete meltdown int the exam room and we were given a script for PT to appease us. We found out about a program in GA called Babies Can’t Wait, that will come to your house for services and help with cost. They came for an evaluation and took us seriously immediately. Bobby officially started PT at 10 months. We were able to add OT around 14 months, and Speech around 18 months. During this time frame, Bobby’s therapists gently explained to us that if Bobby just needed to play “catch up”, we would have seen quicker progress and that we needed to keep looking for answers. We had several blood tests done, an MRI of his brain, trips to a developmental pediatrician, ears tested, and a swallow study done with no results. We were then able to get genetic testing done and a few weeks after Bobby’s 2nd birthday, I received the phone call that our beautiful boy had Dup15q Syndrome. As weird as it sounds, I was excited at first because we had an actual answer! But that excitement faded as we discovered that Dup15q was not only rare, but had a huge range of how a person could be effected by it.
Fast forward and now Bobby is 6 ( almost 7!) and in 1st grade in Special Education. He still has his therapies, but in a clinic setting now and we definitely switched to a different pediatrician. I know its sounds cliché, but dealing with Dup15q is a constant roller coaster. Our highs are so high, as we celebrate the tiniest accomplishments, or inchstones, and this really helps us to notice the small things in life and to be so grateful. The lows can be agonizing though, as we are constantly coming to terms with how our life looks so different than we thought it would. As much as we celebrate Bobby, we still at times mourn the “typical” child we expected. One thing that has really helped in this struggle is raising awareness within our community. This life can already be isolating and so we really want people to feel comfortable interacting with our family. I share often on social media about Dup15q, Bobby, and our homelife. I came up with the term “life with extra” to describe our journey and to note the extra parts of chromosome 15 that Bobby has. Our daughter Reagan is very comfortable with talking about Bobby, going to therapies and being a mini advocate for him. We share openly with her friends and visit her classroom every year so that her peer group not only knows how to interact with her brother, but also learns that different isn’t bad and that we should always be kind.
What is your hope for the future your loved one? For the Dup15q community?: My hope for Bobby is that he is happy, simple as that! I want him to just love life and never stop being curious and having fun. Despite the challenges that Dup15q brings, he is so smart, so sweet, so mischievous, and so so funny! As for the Dup15q community, I hope that there will be research breakthroughs, and new medications, therapies and interventions! My hope is for more hope.
What advice do you have for newly diagnosed dup15q families?: My biggest advice would be to give yourself grace, let yourself grieve, follow your instincts, surround yourself with a great “team”, and don’t be afraid to share your truth!