EGL Genetics Blog

Unique, Not Disabled: An ASD Narrative

Posted by Antonio Shaw on Apr 21, 2016 4:12:57 PM

The following is a fictional narrative.

Michaela Davidson is a happy 5 year old girl with a loving family who provides her with everything she could possibly need. Her favorite snack is peeled baby carrots, she refuses to eat sweet peas, she loves bath time, and her favorite television show is Bubble Guppies. Her teachers describe her as smart, artistically talented, and they marvel at her ability to instantly memorize any song she hears. Michaela also has an autism spectrum disorder (ASD).


 

Although clinical presentations for ASD usually begin during a baby’s developmental stage at ages 2-3, Michaela’s parents, Bob and Sherry, first started to suspect their daughter might be different well before she was 2 years old.

“Honestly, I suspected Michaela was different long before she was 2 years old,” says Bob. “I didn’t press the issue because Sherry, both of our mothers, and others thought I was jumping the gun. Since I wAdobeStock_83837476.jpegas a first-time father and I didn’t want to upset my wife, I let it go as long as I could.”

Eventually, however, even Sherry started to wonder if Bob was right.

“I noticed that she was unusually content with being left alone and entertaining herself, whereas most really young children crave constant attention,” Sherry recalls. ”Michaela never socialized as much, and even once she did, it was only with people she was familiar with, like close family members, but never with any of the other little children. She also hated loud noises.”

Her parents noted that Michaela also didn’t start talking until much later than most other toddlers her age. She also started walking much later than expected. Once she did start walking, Bob and Sherry noticed other unique behavior in Michaela that is typical of children with ASD; she would frequently walk on her toes or flap her hands, a behavior known as stemming, which is thought to provide children with ASD either pressure or relief in their joints. Michaela also had a habit of arranging certain items in a line, like her toy blocks.

 Just before her third birthday, Michaela’s pediatrician referred her to EGL for testing. While there is currently no known “autism gene,” there are a number of genetic causes of autism spectrum disorder, such as copy number variants, single-gene disorders, chromosome abnormalities, and metabolic changes. Michaela's test result came back postive for a chromosome abnormality. These results confirmed Bob and Sherry's suspicions and also gave them access to resources like therapy and other tools designed to support Michaela's development.

"The most important lesson we've learned from this experience is that having ASD doesn't make our daughter disabled. She's happy, smart, and talented in ways that not very many others are." says Bob.

"She's the most unique little girl we know, and we love her all the more for it." Sherry beams with pride.


For more information on autism spectrum disorder, please down load our clinical guide on autism spectrum disorders: http://info.geneticslab.emory.edu/autism.

Please also join us on Tuesday, April, 26, 2016 for our ASD WEBINAR.


 

 

 

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