One family’s story of navigating their son’s Down syndrome/autism dual diagnosis
Hi, my name is Chiara and I’d like to share a bit about my son, Jake. Jake, 14, is just like most other kids his age. He loves to watch music videos on his Kindle and is a wonderful dancer. He has a good throwing arm, likes to play basketball and loves to swim. Just like anyone else, he has his strengths and weaknesses and learns new things at his own pace. His Down syndrome and autism diagnoses do not define him – they are simply part of who he is.
Jake was dually diagnosed with Down syndrome and autism spectrum disorder (DS-ASD) at the age of 7. I was relieved when we received the news because I finally had an explanation for why he seemed different from other children with Down syndrome. The autism diagnosis also made Jake eligible for additional services, such as the state autism waiver, which provides him with community supports. The diagnosis also helped family members and school- and community-based providers to better understand the reason for Jake’s behaviors and how to best address them.
There is a lot of information about autism and Down syndrome out there, but very little on the dual diagnosis. When we received the results of the psychological evaluation documenting that Jake had autism, the psychologist provided a list of recommendations, including resources for further information. Most were related to autism only. However, the psychologist included two resources for Down syndrome and autism.
The first was a book entitled, "When Down Syndrome and Autism Intersect," which had been published just a year or so prior to Jake’s diagnosis. Written by two mothers of children with a dual diagnosis, this invaluable text provides information regarding developmental considerations throughout the lifespan, care coordination, life planning and genetic influences. The other was Down Syndrome-Autism Connection, a non-profit that provides support, education and resources to families with a dual diagnosis of DS-ASD, and that also partners with clinicians and researchers to increase awareness.
Autism Speaks was one of the original resources provided to us when Jake was diagnosed with autism. What really impressed me about the organization was the volume and depth of resources available with respect to area of need, life stage and geography. The Autism Speaks website is also one of the most comprehensive I have found for insurance information. Although focused on healthcare benefits for autism, the information provided is beneficial to anybody with a developmental disability. I provide resource referrals to families of children with Down syndrome who have insurance coverage questions, and I frequently reference the healthcare coverage landing page on the Autism Speaks website.
Read more about Chiara’s journey through her son’s dual diagnosis in this Q&A:
What led you to getting your son evaluated for an additional diagnosis of autism?
We became concerned when Jake was a little over 1 year old because his rate of development began to slow and he manifested some stereotypic rocking behaviors. Jake lagged behind his peers with Down syndrome with respect to fine and gross motor development and communication. Over time, the rocking behavior became more frequent and Jake began to develop other repetitive behaviors, including tooth grinding and throwing. He did not show interest in kids his age, nor did he engage in imaginative play. I remember his occupational therapist commenting that Jake did not know how to play with his toys. Jake began hitting peers, and when he was 7 years old, he was asked to leave his daycare. At that time, we initiated behavioral therapy and the therapist recommended we have Jake assessed for autism.
In what areas has the co-occurring diagnosis caused struggles in your child’s life?
The co-occurring diagnosis has been a struggle because it adds another layer of challenges. Jake is still working on activities of daily living and his progress has been very slow. He has more functional impairments than kids with Down syndrome or autism alone.
How has the Down Syndrome-Autism Connection impacted your life as a parent?
Upon receiving the contact information for Down Syndrome-Autism Connection following Jake’s autism diagnosis, I immediately reached out to join the mailing list and the Facebook page. It is amazing to connect with parents who completely understand the challenges Jake is having without my needing to explain anything. Any time I have a question, I post to the Facebook page and get multiple helpful responses. I also love to connect with other parents during the monthly Zoom calls that the executive director, Charlotte Gray, launched at the start of the pandemic. It was also through the organization that I learned about and subsequently joined the Down Syndrome Medical Interest Group (DSMIG) DS-ASD committee, which provides expertise to healthcare professionals who work with individuals with Down syndrome across the life span.
What advice would you give to other parents who might find themselves in a similar situation?
I would encourage them to reach out to Down Syndrome-Autism Connection immediately and also to apply for or add their name to the wait list for autism waiver services in their state. I also recommend that they read “When Down Syndrome and Autism Intersect" to better understand the diagnosis and how to support their child.
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