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Becoming Amy: Getting a Genetic Diagnosis in Adulthood

Marina Sarris

Date Published: March 10, 2021

SPARK's fifth anniversary logoWe are celebrating SPARK’s fifth anniversary with stories about the first participants who joined.

For Amy Gravino, life-changing news came inside an email so unassuming and so unexpected that she nearly deleted it as spam.

“We have found a genetic cause for your autism,” said the subject line of the email.

Gravino, 37, sent a saliva sample to SPARK, an autism genetic study, when she became one of its first participants in 2016. But almost five years passed, and she assumed that SPARK did not have any genetic answers about her autism.

After reading the SPARK email, she scheduled a phone call with geneticist Wendy Chung, M.D., Ph.D., the study’s principal investigator. Chung explained to Gravino that she has a genetic condition called Kleefstra syndrome-2, and that is why she has autism.

“The words hung in the air for a few moments as I turned them around over and over in my mind,” Gravino wrote in a post on Instagram. “I saw flashes of my entire life, newly captioned, subtitles to be read for scenes I’d never fully understood, and the weight of this moment, this sudden knowing of why came crashing over me.”

“I started to cry right then, and I couldn’t stop.”

For years, she explains, she had wondered if she was two people: “Autism Amy” ― the girl who was bullied throughout childhood for being different ― and “Amy Amy,” a socially acceptable version of herself. As she gradually grew in self-confidence, she realized there is only one Amy. But with this new diagnosis, she wondered, “Am I still me?”

Childhood, Bullies, and Autism

The social world of girls can be complex and puzzling, especially so to a girl on the spectrum. Gravino was an earnest and smart second grader when the trouble began. She became the daily target of bullies, who sensed something was different about her. They called her cruel names. One girl would act like her best friend one day, then treat her “like dirt” the day after. “I wanted so badly to be her friend,” Gravino recalls. “I kept throwing myself on the proverbial fire, not understanding what was happening, and I think that she took pleasure in that.”

Gravino tried to fit in, but without much success. “I wasn’t capable of being anything other than myself, and myself was not acceptable at that point,” she says. Research shows that children who have autism are bullied more often than other children.1

When she was in the fourth grade, Gravino came home from school one day and told her mother she felt like killing herself. That sent her parents on a search for help. At age 11, Gravino was diagnosed with a form of autism spectrum disorder that used to be known as Asperger’s syndrome.

The diagnosis ― at least in 1994 ― did not lead to dramatic changes. “The word autism didn’t really have any meaning for me at the age of 11. I only knew that I was different, and that different was not okay,” she recalls.

Her school gave her an Individualized Education Plan, but it did not provide the help she needed with social and organizational skills. “I’m not sure how much my teachers understood about autism,” she says. Back then, autism was not a household word. Many people associated autism with the 1988 movie “Rain Man,” about a middle-aged autistic man who lived in an institution. No one seemed to know that autism could also apply to a pre-teen girl, she says.

The bullying continued in middle and high school. She was pushed to the ground once, someone put gum in her hair, and students threw balls at her face in gym class. One time she tried to hide in her locker, and a student pushed the door shut on her.

In 10th grade, several students baited her into reading erotic fiction she had written for a class assignment. Gravino complied, happily thinking they wanted to be her friends. “But I was just the day’s entertainment. I was a sideshow freak to them. I ended up getting suspended because of that. And of course they didn’t get in any trouble at all.”

People assumed Gravino’s social differences were a matter of choice. “People would say, ‘Why can’t you just be normal?’ And that voice became the voice in my own head. Why can’t I be normal?” She would ask herself that again and again.

Gravino graduated from high school with no self-confidence or self-esteem, unable to look at herself in the mirror. “I had to basically build Amy Gravino from the ground up,” she says.

She left home to attend a small college and majored in English. She dreamed of becoming a poet and living in a cottage in the Italian Alps, but not because of the scenery. “My only vision of the future was to be alone. I didn’t think I had anything to offer society.”

Focusing on Autistic Teens and Adults

After college, Gravino moved to the West Coast. She fell in love, but the relationship ended in disaster, she says. Eventually, she returned East to get a master’s degree in applied behavior analysis, a method often used for teaching with people who have autism. Many of the graduate students wanted to work with young children on the spectrum. But Gravino knew from personal experience that she could fill a bigger need by focusing on autistic teens and adults. Her master’s thesis was about autistic adults and dating.

Gravino formed A.S.C.O.T Consulting, LLC, and became a college coach and Certified Autism Specialist. She found purpose and success helping others on the spectrum.

In 2013, she gave her first presentation on autism and sexuality, with autism expert Peter Gerhardt, Ed.D. Gerhardt presented clinical information on sexuality and sex education, and Gravino spoke about the personal side of the issue, she recalls. Since then, she has spoken at dozens of conferences in the United States and abroad about autism, sexuality, relationships, and self-advocacy. Steve Silberman, author of “NeuroTribes: The Legacy of Autism and the Future of Neurodiversity,” has described Gravino’s presentations as “salty, funny, wise, compassionate, and very, very real.” She is currently working as a relationship coach at the Center for Adult Autism Services at Rutgers University in New Jersey.

The SPARK Decision

Gravino joined SPARK for some of the same reasons she became an autism advocate and speaker. “I wanted to take part, not to cure autism certainly, but to increase understanding of it and to make things better for people on the spectrum,” she says. Since joining SPARK, she has served on its Community Advisory Council and Participant Access Committee; she is now on the Scientific Advisory Board.

In 2020, Gravino was at her parents’ home for the Christmas holiday when she learned that SPARK had diagnosed her with Kleefstra syndrome-2. Other than autism, Gravino does not have most of the other medical issues that often occur with the rare syndrome.

Gravino wondered what the genetic diagnosis meant to her sense of identity. She had spent years becoming confident and aware of herself as an autistic woman. Who am I now? she asked.

The answer came from an unexpected source: a Christmas gift from her mother. It was a binder of letters Gravino had written to Santa from age 10 until 30. As a child she had asked for presents. But as she grew older, she addressed Santa as a confidante with whom she could discuss her fears. As she read those letters, the answer to “Who am I now?” became clear. As she wrote on Instagram:

“Kleefstra Syndrome-2 might have caused my autism, but it didn’t cause Amy.”

“Learning that there is a reason why I am autistic changes everything, but at the same time, it changes nothing. This is who I am. I’m not broken, or bad, or the failed version of normal I wasted years believing I was. This didn’t happen because I didn’t try hard enough, or because my parents did something wrong before I even came into being.”

“This is exactly the person I’m supposed to be.”

Photo courtesy of Amy Gravino.

Reference

  1. Zablotsky B. et al. J. Dev. Behav. Pediatr. 34, 1-8 (2013) PubMed