Henry, Dup15q

A Diagnosis We Were Ready For

Calvin’s diagnosis of 22q was a big surprise to us. Henry’s diagnosis of Dup15q was bigger than a big surprise – it was a total shock. But this past January, Henry recieved another diagnosis and this time it was one that we did see coming.

By far most individuals with Dup15q syndrome are also diagnosed with autism spectrum disorder at some point in their lives. We learned this early on from reading info on dup15q.org and when I started connecting with other Dup15q families on social media I noticed that they were all also part of the autism community. There is apparently a strong correlation with autism and the 15th chromosome and researchers are trying to figure out what exactly the connection is. And because we had all this info about the high incidence of autism with Dup15q, we fully expected that Henry would get diagnosed with autism eventually.

We also knew that Henry exhibits behaviors that are  similar to some individuals on the autism spectrum. He has sensory meltdowns, he is soothed by rhythmic noise or white noise. He is sensory seeking in some ways, but sensory averse in other ways. He is nonverbal. He self-harms by biting his arms when he is upset or excited. When he’s listening to music or noise that he enjoys, he will sit and rock back and forth rhythmically. To our vague understanding of what autism can look like, we suspected that some of these behaviors were consistent with areas on the spectrum.

Because we suspected that he would be diagnosed with autism eventually, and because we wondered if he could already be considered “on the spectrum,” James enrolled Henry in a clinical study at Duke for children who either already had an autism diagnosis or who exhibited behaviors that could fall on the spectrum. The study lasted a few months and consisted of a few observational play sessions where James would take Henry into the clinic and Henry would play and interact with the researcher, a phone interview about Henry’s behavior at home, and several survey forms that James had to fill out about Henry’s behavior and development.

At last, in January, we met with one of the researchers to discuss their findings. It was Friday the 13th and Henry’s half birthday. And that was the day that Henry was officially diagnosed with autism. It felt like some kind of Dup15q milestone, or maybe a rite of passage. To James, the diagnosis confirmed our suspicions. To me, it was a relief.

It felt like Yesss! We finally got our invite into the Autism Club!! – a club which is much bigger and much more widely known than the Dup15q Club. Dup15q, after all, is considered a rare disorder. Autism, on the other hand, is something that people have actually heard of and might know something about. It’s a relief to me for Henry to have a diagnosis that is recognizable to people we meet. I feel like it’s harder to explain the chromosome disorder because I’ve found that most people have never heard of a chromosome anomaly besides Down Syndrome. And I always wonder if hearing the phrase “genetic disorder” makes people think something must be “wrong” with James and me – like we passed on some bad genes to him or something. But now, when we mention that Henry has autism, instead of the furrowed brow of concern that we’d get in response to our attempt to explain Dup15q, we get brightened looks of recognition, as if to say “Oh, Autism! Yes, that explains it.” And since autism is a much more common diagnosis, we are also getting the response, “Oh, yes, my nephew/grandson/neighbor/etc. has autism!” Of course, the autism spectrum is so broad that Henry is probably not actually that similar to their nephew/grandson/neighbor/etc. but still, it’s nice to have a diagnosis that creates a connection or vague familiarity instead of something that sounds totally unfamiliar.

Having the official autism diagnosis also opens some doors for Henry in terms of therapy and services. We plan to enroll Henry in a type of ABA behevior therapy known as the Early Start Denver Model at the clinic where he did the study.

He’s still our same sweet Henry, but now he’s on the spectrum. He’s our son with autism. Having these new words to identify Henry and this new way to understand him is powerful. This opportunity to feel solidarity with so many other autism parents is also powerful. Getting Henry’s rare diagnosis was very isolating. We were the only people we knew personally who had children with genetic disorders. And their disorders were things no one around us had ever heard of. At least our doctors and specialists had heard of DiGeorge Syndrome – a form of Calvin’s syndrome, 22q deletion. But even the medical professionals we met were unfamiliar with Dup15q because it’s so rare. Getting the autism diagnosis feels like an open door. It gives us a broader way to connect with other special needs parents and it points us in the direction of resources for individuals with autism.

What a nice change to get a diagnosis that didn’t feel surprising or terrifying! Ha!

Autism

If you have a child who has been diagnosed with autism, how did you feel about their diagnosis?

Dup15q families, has your Super Duper been diagnosed with autism? At what age were they diagnosed as “on the spectrum?”

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