My wife, Adrienne, and I were married in 1992 and decided to wait to have kids. Instead, we focused on education, careers and enjoying the freedom that comes with having no kids. Taking days long hiking/camping trips, going to Las Vegas on a whim or going on a drive with no destination. We had been married for 14 years when we realized that if we wanted to have kids it was time to consider it.
On May 17th 2006 our beautiful boy Aidan was born. We knew right away that something was off. He only cried for a few seconds after being born and had his first choking episode at 4 hours old. He was unable to nurse and even had trouble bottle feeding. Over the next 9 months he failed to reach pretty much every milestone. He never cried, even when he was wet or hungry. He rarely acknowledged you when you entered the room and then, for the most part seemed oblivious to the world around him. At our 9-month follow-up visit the pediatrician referred us to Children’s Hospital. The developmental pediatrician suspected Fragile X syndrome and requested genetic testing. Instead of Fragile X the tests came back as Dup15q. Unfortunately, at that time there wasn’t a lot of information available about Dup15q so we didn’t pay much attention to it (the only reason the doctor knew about it was her old college roommate happened to be doing research on it). We definitely knew he had autism (even though he wouldn’t be officially diagnosed with that until 2 years old) so we began that whole regimen of therapies; PT, OT, Speech, Feeding Therapy, Horse Riding, massage, and the Sonrise program. We turned our basement into a therapy room with all sorts of sensory toys and balls and games. We installed a hook in the ceiling to connect different types of swings and brought in all sorts of therapists to work with Aidan. After several years we realized we weren’t seeing any of the results that we expected, or were seeing in other kids with autism. Even Aidan’s “autism” seemed to be different from the other kids we had met. So, we decided to look into Dup15q and see if this was the driving factor affecting Aidan. We found a website (called IDEAS at the time) and all the descriptions of Dup15q completely fit Aidan. There happened to be a conference in Minneapolis coming up so we signed up right away. I can’t remember much from that conference except walking around in a daze. Trying to soak up as much information from the seminars and talking to parents that completely understood what we were going through. We were amazed at the unbelievable diversity of how Dup15q affected each one. Although we had a diagnosis to help explain what was going on with Aidan, we were living in a fog. All the hopes, dreams and wishes you have for your young child vanish almost instantly. Aidan was moderately affected and needed constant monitoring and supervision. We decided, in order to care for him, we would need to split our schedules. One of us would work during the day while the other cared for him and then we would switch at night (a schedule we still have to this day).
In some ways our lives are similar to families with typical kids. Their days and weeks are filled with shuttling their kids to different activities such as sports, music lessons, dance, etc. We instead go to doctors’ appointments, therapies, and any activity that will help keep Aidan engaged in the world. We spend a lot of time at the lake (Aidan loves watching the waves), bowling (he loves watching the ball hit the pins) and watching race cars at the local track. He does require 24/7 monitoring and supervision, so we put cameras throughout our house. This gives him a sense of freedom and allows us to relax a bit. Aidan is non-verbal, but he uses an app on his iPad to get his wants and needs met. HIs communication skills are limited, so we don’t feel comfortable leaving him with other care workers. Because of this we rarely get any respite.
What is your hope for the future your loved one? For the Dup15q community?
We know Aidan is going to require continuous 24/7 support for the rest of his life but we want him to live in a community that will accept, support and encourage him to live the best life he can. We are currently working with local families to help make this community a reality.
What advice do you have for newly diagnosed dup15q families?
The best advice I can give for new families is to enjoy the journey. There will be a grieving period after the diagnosis,