On June 9, 2007, a week before Sina Omidvaran’s 29th birthday, his father drove him to the mall near their home in a small, suburban town north of New York City. Sina loved malls. He loved to walk among the shoppers looking for old school friends, then maybe buy an ice cream or play with the dogs in the pet store.
At the mall, Sina could forget that he was jobless and had few friends outside his family. At the mall, he could forget he had autism.
“We must have visited about a hundred malls across the country,” recalls Sina’s mom, Judy Omidvaran.
“He wanted to go to Minnesota—to see the Mall of America,” adds his father, Fred Omidvaran. “But we never made it.”
The morning of June 9 was still and bright. “It was one of the nicest days,” Fred remembers. At the mall, he and Sina sat together and ate ice cream. Sina was in a good mood. “He was happy, I know,” Fred recalls.
Later that afternoon, after dropping off Sina at home, Fred was showing one of his rental properties. He got a call from Judy on his cell phone. “Something happened to Sina,” she said, her voice shaking.
Fred immediately drove home. Bursting into the living room, he saw Sina’s brother Shain and his mother holding each other and crying. A team of paramedics filed out of Sina’s bedroom. “They told me, ‘There’s nothing we can do’,” Fred remembers. “They told me Sina’s dead.”
Sina, like many individuals with autism, also had epilepsy. That afternoon, while at his computer checking bids on EBay (he was an avid buyer and seller), he had a fatal seizure.
In the hours that followed, Judy and Fred faced a decision that couldn’t wait until after they had a chance to grieve: Should they donate Sina’s brain to autism research?
The Promise of Autism Tissue Research
Brain tissue is a key resource for scientists trying to understand the causes of autism and find treatments that improve lives.
“To really understand a disorder, you have to look at the tissue that’s affected by it,” says Daniel Lightfoot, Ph.D., director of the Autism Speaks Autism Tissue Program (ATP), the largest repository, or brain bank, for autism-specific tissue in the world. “With autism, that tissue is the brain.”
This unavoidable fact is complicated by the impossibility of taking even a small biopsy of live brain tissue. Autism research must rely on tissue collected and painstakingly preserved shortly after death.
These postmortem tissue samples allow researchers to gain vital information about autism that’s impossible to gain in any other way. For example, one recent study using ATP brain samples revealed that children with autism may have an overabundance of nerve cells—a sign of faulty “wiring”—in a brain region involved in social and emotional skills. Another recent ATP supported study found evidence of abnormal gene expression in brain tissues affected by autism. Scientists are also using postmortem tissue to investigate differences in vital brain chemicals and other physical markers that may contribute to autism symptoms.
Already, their discoveries are guiding the development of autism treatments, including future medicines that may, for the first time, significantly ease disabling core symptoms such as repetitive behaviors and severely impaired language and social engagement.
Yet despite the enormous progress made possible through tissue donations, autism research remains limited by an overall shortage of donated postmortem brain tissue, Dr. Lightfoot says.
Autism Speaks is attempting to change this through the ATP. The program collects, preserves and catalogues samples of brain tissue and distributes them to qualified researchers worldwide. Before the ATP was founded in 1995 (by the National Alliance for Autism Research and the Autism Society for America), there were fewer than 25 autism brain specimens total, across the country.
Today, the ATP has more than 150 brain specimens from donors with autism and around 25 specimens from unaffected relatives and donors with other developmental disorders. Most specimens are stored centrally at the Harvard Brain Tissue Resource Center in Cambridge, MA. Some are sent to partner banks across the country and in the United Kingdom. Together, these resources have made possible 125 research projects to date.
This is an important step toward supplying the resources that scientists need to conduct high-quality, fast-paced autism research, Dr. Lightfoot says. The challenge ahead is to let more families know about the ATP and autism-related organ donation.
Ideally, individuals and families will make the decision to become ATP donors long before they are faced with the confusion and grief that follows the death of a loved one.
Because brain tissue quickly deteriorates after death, family members must decide to donate and contact the ATP within 24 hours after their loved one has died. This can be especially difficult for grieving parents.
The ATP website provides a wealth of information for families considering donation, as well as contact information (info@autismtissueprogram.org, 1-877-333-0999).
The ATP also assumes all costs associated with donation.
A Life with Autism
“He was the most perfect, beautiful child,” Judy says. She pulls out a family album. There is baby Sina taking a bath. There is toddler Sina swinging on a rope swing. There is Sina riding a pony. In almost every shot, he has a big, open-mouthed grin – happy and engaged with the world.
The first signs that something was wrong came at age 2. Sina’s nursery school teachers noticed he wasn’t interacting with the other kids. His language skills were delayed.
“His brother Shain was a year and a half younger than Sina,” Judy remembers, “but when Shain learned to speak in full sentences, Sina was still speaking in partial sentences.”
Soon after, Sina was diagnosed with autism. Still, his language improved, and he made friends. He seemed to be “outgrowing” the disorder. When he was 10, his diagnosis changed to high-functioning autism.
Although Sina’s IQ scores never rose above “low average,” he had an insatiable capacity for learning and a remarkable memory, his parents recall.
“He knew all the presidents of the United States,” Fred says. And he was a walking encyclopedia on World Wrestling Entertainment (WWE) wrestling. “Once, we took him to the doctor [for a neurological exam], and he knew the exact time and day he had been there two or three years before!”
Adds Judy, “People who knew him as a child didn’t believe he had autism. But when he hit puberty, wow, things really changed.”
As a teenager, Sina became uncooperative and moody. He got easily frustrated and angry, and broke down emotionally when faced with unexpected situations—power outages, for example, or a computer malfunction. “If something didn’t work, he would smash it,” Fred remembers. “We went through a lot of electronic equipment,” Judy says, then quickly adds, “That was the Mr. Hyde side of him. There was also a very nice side.”
Sometimes when Sina was upset, he would lie on the couch and stroke Suzi’s soft fur. “Daddy,” he would ask Fred, “can you say a prayer for me?”
It was around this time that Sina was also diagnosed with epilepsy. As his aggressive behavior worsened, so did his seizures. His doctors tried different medications, but nothing helped. Judy started following the latest advances in autism research and treatments, even attending scientific conferences.
When Sina graduated high school, Judy and Fred began looking for housing, job services and other programs for adults with autism. “But we couldn’t find anything that was suitable for him,” Judy says. “He didn’t fit into any of the programs. He was always either too high-functional or he was too emotional.”
During his twenties, Sina grew more and more depressed. Recalls Fred, “I think he realized his life was going absolutely nowhere.” Still, Sina had his good days – like the morning in the mall with his dad, right before he died.
In medical terms, Sina suffered “sudden unexplained death in epilepsy” or SUDEP. As the name suggests, doctors don’t know what causes it, although they suspect it occurs when a seizure prevents a person from clearing an obstructed airway.
A recent study made possible through ATP tissue collection and co-authored by Autism Speaks science staff concluded that people with both autism and epilepsy are eight times more likely to die prematurely than people with autism alone.
A Difficult Decision
In the hours following Sina’s death, Judy couldn’t stop thinking about a story her friend told her a month earlier. It involved another mother whose son had autism. The family was vacationing in Mexico when the boy unexpectedly died. Despite her grief, the mother was so determined to donate her son’s brain to scientific research that she personally carried her son’s brain back to the United States in a cooler.
“I kept thinking about the mother—how brave she was and how tremendously valuable her donation is,” Judy says. “It is so important to better understand what is the difference between an autism brain and a normal brain so that we can come up with treatments.” She had no doubt that donating Sina’s brain to the ATP was the right decision.
Fred was less certain. “For me personally, it was a very hard decision,” he says. He could imagine the medical examiner removing Sina’s brain, and the image haunted him. “It was not easy to let go,” he says. “But I also thought, if donating Sina’s brain can help someone else not suffer, that would be a big reward.”
A year after Sina’s death, Fred and Judy visited the ATP brain bank on Staten Island, NY, where their son’s brain tissue has been preserved and examined. They watched as the brain bank’s director, neuropathologist Jerzy Wegiel, Ph.D., slipped a series of slides under a microscope.
The slides contained paper-thin slices of Sina’s brain, each stained a brilliant royal blue. Dr. Wegiel pulled up the images on his computer screen and pointed out spots where Sina’s brain cells had failed to migrate to the proper places and others where the tissue had grown abnormally thick.
The experience felt “like going to space in a rocket,” Judy says of peering into her own child’s brain and seeing the visible markers of the condition that had caused his suffering. It felt scary, but also somehow noble, she says.
“Here we were seeing with our own eyes that Sina’s brain was clearly very different,” she says. “It answered a lot of questions about why he behaved the way he did.”
The Omidvarans say they will always be scarred by Sina’s death. “Every place I go, I miss him very badly,” Fred says.
Yet there is also great comfort in knowing that Sina has also become part of something important and good, Sina’s parents agree. In the three years since Sina’s death, his brain tissue has been used in 35 research studies. Says Judy, “There is still a lot more to be done.”
For more information on the ATP and opportunities for family registration, please visit the ATP website. Resources for adults on the spectrum can be found on our Adults with Autism page.