Riley

Riley’s Story 

by Shannon & Jeff 

Riley was born on October 4, 2003; she is our first and only child. We had a great pregnancy and as you can imagine we were so excited to be new parents. Riley appeared healthy at every pediatrician appointment, she was a great baby and we were easily adjusting to being a new family. I went back to work after 12 weeks and Riley was left in the care of a woman who had been taking care of infants for years. I’ll never forget on March 17, 2004 when Riley was 5 ½ months the babysitter pulled me aside and told me that she thought I should take Riley to the pediatrician, something was “not right”. Looking back I’m sure she had many concerns but she told me she was concerned that Riley was not even trying to roll over. At the time I really wasn’t concerned but called the pediatrician an anyway and they fit me in for an appointment that evening. As soon as the pediatrician started to examine Riley she had a look on her face I will never forget and she immediately referred us for a MRI, physical therapy, developmental pediatrician and a neurologist.

The next several months we no longer were enjoying our new family; instead we were very overwhelmed and worried about her every second of the day. We spent the majority of our time going to doctor appointments, having lots of tests and therapy. We were relieved every time a   test came back negative. Our state sponsored early intervention program evaluated Riley and we were told she was more than 50% delayed, they recommended physical, occupational,  speech and developmental therapies. In June our neurologist referred us to genetic testing, I remember the list of things they were testing for was a mile long. The second day I’ll never forget is August 15th when the genetic counselor called and said we needed to make an appointment; they found a duplicate 15 chromosome. Of course I went online immediately and googled the chromosome, IDEAS (now known as Dup15q Alliance) was the first and ONLY real  information I could find about this chromosome duplication. I looked at the site but tried not to get ahead of myself, I wanted answers from at the time who I thought would be the “expert”, the geneticist. Our geneticists spent about 10 minutes explaining the report, when we started to ask questions he handed us handed us a print out from the IDEAS (Dup15q Alliance) website and told us he didn’t know much about this disorder because it is so rare. When we visited our developmental pediatrician with the diagnosis all she advised is that we should be prepared for Riley to be severely mentally retarded with physical challenges.

I’m thankful that our pediatrician and other medical professionals were aggressive to find a diagnosis however the news was still devastating to us. For a year I spent hours reading the Dup15q  Alliance website and message board, I was too afraid to talk to anyone from the group but I think I read every inch of the website and every archived message on the message board. In 2005 we went to our first dup15q conference. We were overwhelmed with information, meeting parents/caregivers and could not believe how different every person affected was. It was bittersweet for us in that we finally found a group of people that understood exactly what we were going through however I think it was the moment that we finally realized what our road ahead may look like.

Even after going to a couple of conferences and connecting with people in dup15q, I had thought in the back of my mind that Riley would “catch up” if we did enough therapy. As Riley’s peers at daycare and our friend’s kids developed the gap only widened and it was apparent that she only lagged further behind. Riley didn’t roll over until she was 9 months old, smile until she was 10 months old, and didn’t babble a sound until she was about 15 months old, didn’t sit unassisted until about 18 months old and didn’t walk until she was almost 3. While our friends would casually mention that when their kids accomplished these milestones we would celebrate these milestones as if we had won the lottery.

Riley is now 8 years old and continues do develop and learn at her own pace. We have finally stopped stressing and driving ourselves crazy trying to “cure” her. We still celebrate every new development and enjoy her abilities. Riley is really happy and has a lot of enjoyment in life, among other things she loves going to hippotherapy, petting dogs in the neighborhood, swimming, walking outside, riding in her wagon, watching Sesame Street and playing on her Ipad. Riley participates in special recreation and last year won the Young Participant of the Year award. Since she was 3 she has participated in a program called Special Gifts Theatre, in this program she works with typical peer buddies to learn different stories. This year she will get to participate in a story show on a stage.

Riley attends a local public school where she is in a self-contained classroom focused on structured teaching. At school she participates in a buddy program that allows her to get to know lots of kids at school. We are happy that she is able to attend a school in our community and that many of the kids in our community have the opportunity to know her.

It is amazing that although Riley is non-verbal she teaches us something every day. The biggest lesson we have learned is to accept our child for who she is and not who we think she should be. This is a lesson we feel that many parents of typical kids don’t learn until much later in life or maybe ever.

Dup15q Alliance is a huge support to us. We are so grateful for all of the volunteers that run the organization and that have worked to take the organization to where it is today. We have gone to 4 conferences since diagnosis; we learn something new at every conference and are inspired by the amazing families. Our favorite thing about conference is seeing all of our old friends and always meeting new friends. The support goes further than conference, through BigTent and Facebook we have made connections with people we have never met before. We know our dup15q friends are all there to share our good stories and to help us through our tough days.