Date Published: August 30, 2019
At first, Denise Lombardi noticed little things about her baby, RJ. He preferred dim light and silence. He didn’t look at her eyes or babble. When RJ was 19 months old, a doctor diagnosed him with autism. The following year, his family learned that he has epilepsy.
Lombardi wonders if something in her DNA contributed to RJ's conditions. “There is an extensive history of neurological and psychiatric health issues in our family,” she explains. When she heard about SPARK, the largest study of autism, she eagerly registered her family. She, husband Rob, and RJ gave DNA samples. Rob Lombardi says he joined because he wants to know what ties all people on the spectrum together, on a genetic level.
But their interest runs deeper. They hope research will lead to better treatments, especially for those who have both autism and epilepsy, Denise Lombardi says. The family knows people with epilepsy who have died unexpectedly. “This is a matter of life or death,” she says.
The Path to Autism Diagnosis
RJ was born on a December day. He had some early difficulties, including trouble nursing due to low muscle tone. And he cried — a lot. His pediatrician called it colic, a catch-all term for unexplained crying in infants, Lombardi recalls.
Most babies are soothed by the sound of a parent's voice, but RJ would often cry until his mother stopped talking or singing to him. And when Lombardi carried RJ downstairs, he would often start to cry when she reached the tenth of 13 steps — about where sunlight would shine through a window. People who have autism may be very sensitive to sound, light, or touch.
When RJ was about 7 months old, a friend visited with her own son, who was close in age to RJ. “The difference between the two boys was startling to me," Lombardi recalls. "My best friend’s son was such a chatterbox and RJ, if he wasn’t upset and crying, was almost completely silent.”
Eventually RJ began receiving speech, occupational, and play therapies for his delays. One therapist told Lombardi that RJ was not social, but no one mentioned autism.
One of Lombardi’s friends has a child with autism. As the friend told Lombardi about autism, Lombardi realized that RJ had similar symptoms. She made an appointment at a clinic in Chicago, where a team evaluated RJ. The team left the room to confer, and when they returned, the lead doctor said, “‘Let’s not beat around the bush. He’s got autism,’” she recalls. She had already suspected this.
Moving for Autism Services
The Lombardis knew it was important for RJ to receive autism therapies as early as possible. But they lived in a fairly rural area in Illinois, with limited services and few specialists.
Lombardi believed RJ would be better off in her native New York. A month after the diagnosis, she and RJ moved in temporarily with an aunt on Long Island. Rob Lombardi stayed behind to sell their house and arrange a job transfer to New York. A few months later, all three Lombardis settled into a new home. RJ began receiving more hours of autism therapy than he had in Illinois.
Shortly before his third birthday, RJ received a diagnosis of epilepsy, also called seizure disorder. About 20 to 30 percent of people with autism also have epilepsy.1 People who have autism and intellectual disability, like RJ, have the greatest risk for developing epilepsy.
Keeping RJ Healthy and Safe
As RJ grew, his academic and medical needs became more complex, and he attended different programs and schools. He learned to communicate using an electronic device, and he also can speak some words.
A few years ago, the Lombardis became particularly concerned about his epilepsy. One of RJ's classmates, who also had epilepsy, died suddenly. A month later, Denise Lombardi awoke one night when she heard RJ moving around. She sprang out of bed, without taking time to put on her eyeglasses, and ran to find him. He was on the floor, having a seizure. “That was one of the scariest seizures he has had,” she recalls. A month after RJ's seizure, a family friend, who had epilepsy, died suddenly in his 40s.
Stunned by those events, Lombardi researched an epilepsy risk called SUDEP, or Sudden Unexpected Death in EPilepsy. The estimated rate of SUDEP is about one case per 1,000 people who have epilepsy a year.2 People who also have intellectual disability are at greater risk for SUDEP.3,4 Overall, people who have autism and epilepsy face a higher risk of death than people who have autism alone, according to research.5 “I feel so passionately that people should know this, and we should get more research in this area,” Lombardi says.
The Lombardis began looking for a residential school for RJ where he would get around-the-clock monitoring. Working with their school district, they applied to several programs, but were turned down because of RJ's intense needs. Finally, a school located several hours away accepted RJ. There, RJ receives medical care and monitoring and even collects eggs on a farm, his mother says. Because of the school's focus on nutrition, the teenager who would only eat French fries and beef now enjoys fish and vegetables — even spinach. "His overall health is 1,000 times better," Lombardi says.
She and her husband miss having their only child at home with them, she says. Every Friday, they drive three hours to spend the weekend with him near his school. RJ is now 15 and has a sly sense of humor, she says. For example, he likes to create a distraction to get something he wants, such as Oreo cookies. He also has a keen sense of direction. When riding in the family car, he knows when they are near a trampoline park or restaurant before his mom does. “He knows where every Dunkin’ Donuts or Panera is,” she says.
The Lombardis are planning ahead for RJ. The family is opening a general store in a small town near RJ’s school, where he and others with disabilities can work. They will sell items made by those with special needs. The Lombardis envision a place that will “break down stereotypes and other barriers” between people.
Advocating for Research
Besides starting that business, Denise Lombardi also advocates for research into autism and epilepsy. A member of the SPARK Community Advisory Council, she spoke about epilepsy at a meeting of SPARK researchers in 2019. She also has taken her concerns to a committee that advises federal agencies about autism.
But she does more than just push for research — she enthusiastically participates in it. She has taken part in many studies through SPARK’s research matching program, which pairs families with studies they can choose to join. “The work that SPARK is doing to solve the mysteries of autism is amazing to me, and I'm so appreciative,” she says.
Watch a video Lombardi made for SPARK.