“Half My Childhood is Gone”: Growing up with Autism and Epilepsy
Date Published: October 24, 2022
Abigail Ranger does not remember everything about her childhood. But she knows the outsized role that epilepsy played in it.
Ranger, who has autism and epilepsy, struggled with serious and hard to control seizures that began when she was in preschool. After a seizure, she would lose skills and even her memory of past events, says her mother, Denise Ranger.
“Half my childhood is gone because of the seizures. I got sick so many times,” says Abigail, who is 33.
About a decade ago, Abigail discovered the reason for her autism and epilepsy. She has a small duplication of genetic material on one chromosome. In 2012, she joined Simons Searchlight, a research program for people who have variations in genes and chromosomes that contribute to autism and neurodevelopmental conditions.
The Rangers also participate in the SPARK autism study, a sister program to Simons Searchlight. They hope to connect with other families like theirs. Denise would like to learn more about what the future holds for adults with autism and genetic conditions.
“I would like to know more about what is expected as you age. What should you be prepared for?” Denise Ranger asks.
A Quest for Answers
Abigail had developmental delays as a toddler and began attending a preschool for children with delays when she was 2, her mother recalls. But she was not diagnosed with autism until she was 6.
By that time, she had already begun having the seizures that dramatically affected her childhood. Epilepsy is more common in people with autism than in the general population. Six percent of SPARK participants with autism also have a seizure disorder.
Doctors struggled to find an anti-seizure medication that Abigail could tolerate and that worked, Denise says. “They kept changing the medication because nothing was working.”
Abigail’s school seemed challenged by her dual diagnosis of autism and epilepsy. Teachers could not tell if a behavior was a feature of autism, or a seizure, Denise recalls. “It wasn’t for a lack of caring. It was for a lack of knowing,” she says.
Denise home-schooled Abigail for a time, and when she returned to school, Denise went with her as a classroom volunteer. “I was her aide for 13 years,” Denise says.
The Rangers began traveling from their home in Maine to Massachusetts, so that Abigail could see a specialist at Boston Children’s Hospital. When Abigail was 9, a doctor implanted a vagus nerve stimulation device to help prevent her seizures. The device sends small electrical impulses to stimulate the vagus nerve, which connects the brain to other organs.
Abigail’s epilepsy improved after the implant. Afterward, she began participating in a variety of sports in the Special Olympics, including cross country skiing, softball, track, and shot put.
“Something More than Autism”
Her doctor and mother suspected that something might be causing both the autism and epilepsy. So, as a young adult, she underwent genetic testing. She learned that she has a 16p11.2 duplication, with the letter and numbers pinpointing the location on chromosome 16 where the extra genetic material appears.
People with this duplication are more likely to have speech, learning, and motor delays; attention deficit hyperactivity disorder; anxiety; and depression. About 20 percent of people with the duplication have autism, and 19 percent have epilepsy, according to a study whose authors included Simons Searchlight researchers.1
For some people with the duplication, their only symptom may be mental health or speech problems, while others may have no issues at all.2
Abigail was surprised to receive a genetic diagnosis, especially the 16p11.2 duplication. “I wasn’t expecting a thing with such a long name,” she says.
The news did not surprise her mother. “It was always something more than autism, and they couldn’t figure out exactly what it was until we got this chromosome diagnosis,” Denise recalls.
Because the duplication may run in families, Denise also underwent genetic testing when she was in her 50s. She learned that she too has a 16p11.2 duplication, which her daughter inherited.
Denise felt relieved to get her own genetic diagnosis. She wonders if it explains certain characteristics that she has. “I was anxious about everything. I didn’t like anything new. I didn’t like changes,” she says. She wondered if her difficulty with math was really an undiagnosed learning disability.
The Rangers also shared their genetic diagnoses with their doctors.
The Rangers are among the more than 300 families with a 16p11.2 duplication who have registered with Simons Searchlight.
Unlike most SPARK participants, the Rangers came to SPARK with genetic diagnoses. Usually, the direction is reversed, with people learning about a genetic condition from SPARK, and then joining Simons Searchlight to continue their research journey.
SPARK participants contribute saliva samples for DNA analysis by researchers. SPARK will notify people if it finds a genetic variant that is linked to autism, if the participants wish to know.
Being Brave: Abigail Today
Today, Abigail continues to manage her epilepsy with a vagus nerve device and medication. She participates in an art program for adults with disabilities, where she paints, draws, sculpts with soft clay, and creates linoleum stamps for printing designs. Her artwork is sold through the program.
Abigail enjoys fantasy novels by Erin Hunter, the pen name for the authors of the “Warriors” cat series and other books about animals. She even met one of the authors, Vicky Holmes.
In fact, Abigail says she is working on her first book, “A Cat’s Leadership,” about wild cats. The book is for children and teens, and her pen name is Abigailpaw Ocean.
The Rangers have three cats, Candy Cane and two they rescued, Itty Bitty and Tawny Rainbow.
Abigail says that her challenges include speech and movement. “I have movements that come out of nowhere when I try to do something.” As for strengths, she says, “There are too many to count.”
Her mother agrees, but like any proud parent, she is willing to list a few. “She’s very curious and kind. She’s bright and brave. She loves music, which makes her happy. When she’s out in familiar places, she does very well.”
Interested in joining SPARK? Here’s what you should know.
Photo provided by Denise Ranger.
- See SPARK articles and videos about epilepsy.
- Explore SPARK articles and videos about genes linked to autism.
- Learn about Simons Searchlight.
- D’Angelo D. et al. JAMA Psychiatry 73, 20-30 (2016) PubMed
- MedlinePlus. National Library of Medicine. https://medlineplus.gov/genetics/condition/16p112-duplication Accessed September 28, 2022.