Our Journey with Down Syndrome and Autism: The Missing Puzzle Piece
Written by Kristi Denner
Receiving a dual diagnosis of Down syndrome and Autism Spectrum Disorder (DS-ASD) for our son didn’t necessarily shock us – in fact, it was as if we were finally being handed a puzzle piece that we knew we were missing but couldn’t find. I am grateful we pursued further testing toward the diagnosis of Autism, because it’s helped us understand Harrison’s needs that much more.
If you have a child with Down syndrome, you already know the incredible blessing he or she is to you and your family. You are also likely familiar with being on a different “timeline” in terms of development and growth. So, how do you know when your child is simply progressing at his or her own pace, and how do you know when something else is at play to be aware of, especially when you have a medically complex situation? This is where we were just over a year ago.
We had been proactive since receiving a prenatal diagnosis of Down syndrome, got plugged in with the DSAGSL right away, and then started with Missouri First Steps early intervention immediately after birth. After a very typical first 6-9 months of life, we started to see significant changes in our son Harrison, much of which had to do with seizure activity and regression. Controlling the seizures became top priority for quite a few months, and it felt like we lost a lot of time during therapies, as he stopped progressing in almost every area.
Shortly after, we had some major challenges and hospitalizations due to both GI complications and pneumonia. It felt like we were on a roller coaster ride with our days dictated by therapies, meeting with specialists, medical procedures, etc.
For those 18+ months of seemingly never-ending medical issues, we saw very little progress (or one step forward, three steps back) in therapies, as Harrison’s body was working so hard just to find equilibrium. When so much is spiraling all at once, it’s hard to know what is causing what. We saw some red flags in behavior during those months, but with so much going on in his little body, nothing else was on our radar.
Once his seizures had been controlled and his health had been steady for a while, we continued to see the behaviors that we once brushed off due to health concerns. Development still wasn’t happening in some key areas. Harrison was not aware of or interacting with his environment appropriately. He was not making eye contact, was not communicating verbally or signing, and still did not respond to his name at 2.5 years old. We would find him rocking back and forth excessively while twirling one simple rattle toy, or simply staring at his hand or a light up toy, for 30-45 minutes at a time. He was struggling with eating certain textures and even stopped drinking fluids. He would often bang his head repeatedly against the back of his high chair, and he became very sensitive to loud noises that would instantly make him cry.
Luckily, our new pediatrician was well-versed in working with medically complicated situations, had experience working with hundreds of children with Down syndrome, and had her own first-hand experience as a parent of a child with Down syndrome to guide her. She had brought up looking into further testing for ASD in the summer of 2019, and again that fall when we were still concerned with the same red flags.
To be honest, I wasn’t sure how I felt about pursuing another test for yet another label, but I trusted her and knew we had to find some answers. We immediately filled out paperwork through the Mercy Kids Autism Center, with the expectation of being waitlisted for 6 months. 4 months later – in February of 2020 – we were able to get in to see a developmental specialist for a 3-hour long evaluation.
The evaluation consisted of close observation of Harrison’s interaction with toys and his environment and a detailed review of his health history and his progression of development and milestones. The specialist also asked a multitude of questions pertaining to his communication, behaviors, and social skills. It didn’t take the full 3 hours for her to realize that Harrison was living in his “own little world” with little to no awareness of his environment and surroundings.
Shortly after the evaluation and coming to an agreement about moving forward with a formal diagnosis (considering the perspectives of Harrison’s therapists and pediatrician as well), we received a detailed written report and diagnosis.
It was incredibly thorough, and a bit hard to swallow when reading that at almost 3 years old, Harrison was functioning as a 6-7 month old in most areas. Harrison received the diagnosis of Autism Spectrum Disorder (Level 3).
While this information and diagnosis brought back some of those same crushing feelings we had felt before when finding out Harrison would have Down syndrome, I also felt a sense of relief and validation. Parents, if you feel something is not quite right, especially in the areas of communication, repetitive behaviors, and social skills, look into it. Dig deeper, and don’t let anyone tell you without further research that it’s just low-functioning Down syndrome and your child is already getting what they need in therapies. Maybe that’s true. BUT… maybe it isn’t. The therapies (ABA – Applied Behavior Analysis), resources, and support we now have access to because of this diagnosis is crucial for Harrison’s development in both the short- and long-term.
Although we were blessed to have our pediatrician guide us in this direction, I’ve learned that many healthcare providers are not well-versed in the DS-ASD dual diagnosis, so it’s important to advocate for your child and trust your gut. Another diagnosis is not something to be feared or avoided, it’s a necessary step in learning more about how to best help your child.
At the end of the day, your child is still the same, and you will continue figuring out what is best for him or her. Nothing about your child changes with a diagnosis, except for a new understanding of them and a new set of tools to meet their individual needs. If you have ongoing concerns, talk with your child’s primary healthcare provider about red flags, do some research, and start any paperwork sooner rather than later to get your name on a waitlist, as it can feel like a long process when you want answers right away.
Harrison is one of the biggest blessings and joys in our lives, and he is incredibly loved by all of his family, teachers, therapists, and our community. We are so thankful for the beauty and gifts he brings this world, and privileged to be his parents and his biggest advocates!
Happy Autism Acceptance Month, friends! Here’s to much grace for navigating a new plot-twist along the journey, and gratitude for the knowledge that comes with another missing piece to the puzzle!
Some helpful resources in learning more about the DS-ASD dual diagnosis: