Lizzie’s Diagnosis

I’ve always been interested in people—what makes them alike, what makes them different . . . what makes them tick. So I studied psychology. I could have taken any one of a number of career paths after finishing my master’s, and it just so happened a nonprofit treatment program for chemically dependent adolescents in my area was looking for someone and I was looking for a job. The course was set. I learned a great deal from those kids and their families and loved it most of the twenty-something years I spent there.

During those years, my younger daughter finished high school and college, got married, and started her family. Her second child, a daughter, was born with Down syndrome. I’ll call her Lizzie. We had not expected that and grieved a little, but we soon changed our expectations and moved on. We noticed kids with DS working at Kroger, eating out with their families, and enjoying themselves other places in the community. One evening a bunch of young adults with DS from a group home nearby showed up at a neighborhood concert and danced together like they were on Dancing with the Stars. I loved watching them obviously having so much fun. They seemed happy and functional.

As Lizzie developed, I noticed behaviors that I would not associate with Down syndrome. She was super sensitive to certain sounds. If I turned on one specific water faucet, she would put her hands over her ears and scream. She became mesmerized by ordinary visual stimuli such as water pouring or the garage door opening and closing. She also did not develop speech.

When she was four and my daughter had another child, Lizzie became aggressive with the baby and other younger, smaller children—pulling hair, scratching, pinching, and similar antisocial behavior. We could not leave the baby unguarded, and we could no longer take Lizzie any place where other children played. No parks. No parents’ nights out.

As is common in people with Down syndrome, my granddaughter had hypotonia, meaning her muscle tone was weak and her joints loose. The loose joints meant she could fold her body up like a contortionist. She had a tendency to boltaway from whomever she was with. Restraining her was made difficult by her loose shoulder joints and unusual strength. If we grabbed her around the chest to safely lift her, she could easily slip out of our grasp. We called it “disappearing armpits.” When she started school, she could also slip out of her restraints on the school bus, which meant an aide had to ride with her.

Her pediatrician repeatedly told us she felt there was something different about Lizzie, something more than Down syndrome, but she didn’t know what. We sought help from a behavioral therapist and, in desperation, made an appointment with a psychiatrist at the Thomas Center for Down Syndrome Services at Cincinnati Children’s Hospital. Lizzie was immediately dually diagnosed with Down syndrome and autism spectrum disorder (DS-ASD).

I had no idea that a child could have both Down syndrome and autism. It seemed too much of a coincidence. Despite studying psychology for six years, I had never heard of it. Apparently, Lizzie’s pediatrician hadn’t either. But I’ve since discovered it is not a coincidence and not that unusual. Research indicates that 16 to 18 percent of children with Down syndrome also are autistic. Some experts estimate that the percentage is much higher.

The Centers for Disease Control and Prevention (CDC) states this: “Although the cause of ASD is known in some people and not known in others, genetics, biology, and environment are all important factors. Having older parents, a difficult birth, or infections during pregnancy are all examples. Beyond these factors, certain people are at higher risk than others. . . . People with certain genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Down syndrome, are more likely to have ASD.”

A plethora of information about DS-ASD can now be found online at DS-ASD-Connection.org, and a search on YouTube will pull up several different videos on the subject. The Down Syndrome Connection of the Bay Area presented an especially informative webinar by Noemi Spinazzi, MD, FAAP, medical director of the Down Syndrome Clinic at UCSF Benioff Children’s Hospital, and Teresa Unnerstall, DS-ASD consultant and the author of A New Course: A Mother’s Journey Navigating Down Syndrome and Autism.

One thing is clear: research is ongoing, and the information is relatively new. In the 1990s it was believed children with Down syndrome could not develop autism. That explains why Lizzie’s pediatrician did not recognize it.

During Lizzie’s school years, my daughter was a professional who needed to leave for work at about six in the morning and sometimes didn’t get home until after six in the evening. Lizzie’s father was deployed a year at a time. Lizzie needed help getting ready for school before her bus picked her up and supervision in the afternoon before her mom got home. A Medicaid waiver provided the funding for an aide, but finding dependable people to provide care was hard. My part-time job required traveling, so I wasn’t always there. After my daughter tried three different agencies, I quit my job and became Lizzie’s care provider. And I decided to write this book somewhere along the way.

I wanted to give readers a glimpse of life with a severely disabled child. It has its challenges for sure, and they impact the whole family, but it also has its rewards. Lizzie’s brother and sister are two of the most compassionate teenagers I’ve ever known. Her brother is studying to be a special ed teacher, and they both have volunteered at Stepping Stones, a camp for children with disabilities. It’s hot and hard work, but they love it. Lizzie doesn’t necessarily enjoy the same things other kids enjoy because she is her own person. Just as the experiences with Lizzie portrayed in this book are unique to her, my thoughts in this note are my own.