BARTLETT, Ill. — Danielle Rizzo’s son is screaming. He is planted in the middle of the lobby of his elementary school, clinging to rainbow-colored blocks as she gently explains that she is here — off schedule, in the middle of the day — to take him to a doctor’s appointment. But the first-grader is not listening.
“Happy Meal,” he repeats over and over again. “Happy Meal!”
His little brother, who is also going to the appointment, is nearby, not moving. Rizzo is relieved that the two of them are not melting down at the same time, which happens all too often, and firmly guides them out the door.
Rizzo’s children, ages 7 and 6, were at the center of one of the most ethically complex legal cases in the modern-day fertility industry. Three years ago, while researching treatment options for her sons, Rizzo says she made an extraordinary discovery: The boys are part of an autism cluster involving at least a dozen children scattered across the United States, Canada and Europe, all conceived with sperm from the same donor. Many of the children have secondary diagnoses of ADHD, dyslexia, mood disorders, epilepsy and other developmental and learning disabilities.
Donor H898 from Idant Laboratories looked like a winner.
He was blond and blue-eyed, 6-foot-1, 240 pounds, and appeared to be smart and accomplished. His profile said he had a master’s degree and was working as a medical photographer. His hobbies included long-distance running, reading and art.
And most important, Rizzo says, he had a clean bill of health, according to his profile — having scribbled “NA” and a strikethrough line on all but one of the more than 100 medical questions, including mental health ones, posed by sperm banks. (His paternal grandfather had had prostate cancer at age 85.)
Rizzo filed a lawsuit in U.S. District Court for the Northern District of Illinois in July 2017. In her complaint, she alleged that his online profile was a lie and that he was not an “appropriate candidate for sperm donation.” She sued Idant and Daxor, Idant’s former parent company, under the state’s consumer fraud and deceptive practices act.
She says in the complaint that research, based on public documents and calls to his relatives, showed that the donor had no college degrees, had been diagnosed with ADHD, and “went to a school for children with learning and emotional disabilities.” (Idant, and other sperm banks, generally do not verify their donors’ medical and educational backgrounds.) Moreover, her attorneys wrote in the filing, “Donor H898 is a prolific sperm donor who has fathered at least 12 children through sperm donation, and that each of those children has either been diagnosed with Autism, or suffers from signs and symptoms associated with Autism.” In court documents, other mothers corroborated the story.
Desperate for help, Rizzo Googled “world renowned geneticist” and “autism” and came up with the University of Toronto’s Stephen Scherer’s name on several research papers and a YouTube video.
“I have two boys ages 3 & 4 that have been diagnosed and live with autism,” she emailed. “I have connected with other moms from the same sperm donor. We have found that 7 or 8 children have been diagnosed with autism. . . . This was a shock and devastation to say the least.”
Scherer was so intrigued that he replied at 4:36 a.m. He had never heard of such a large cluster in one generation of a biological family. “It was the perfect kind of genetic experiment,” he said in a recent interview.
For more than 20 years, Scherer’s lab, based at the Hospital for Sick Children in Toronto, has been collecting, cataloguing and trying to find patterns in the DNA of families affected by autism. It has more than 20,000 samples. A similar project, called SPARK and funded by the Simons Foundation in New York, has amassed 85,000.
Scientists know of more than 100 genes that appear to be associated with autism. Some are inherited, while others occur as new mutations. (Other factors have been linked to autism, including an older father or complications during pregnancy. A proposed link to vaccines was based on fraudulent research and has been disproved.)
Most mutations associated with autism do not definitively cause the condition; they only increase someone’s risk. But, Scherer says, an intriguing subset of “high impact” genes — estimated to be involved in 5 to 20 percent of all autism cases — appears to directly result in autism.
“We call autism one thing, but it’s different in every person. In some it’s all about the genes. Some it’s a combination of genes and the environment. Some people, it’s unknown,” said Wendy Chung, a professor of pediatric medicine at Columbia University and principal investigator of SPARK.
When researchers tested Rizzo’s older son’s blood, Rizzo says they found two gene mutations linked to autism — MBD1 and SHANK1. Her younger son has the MBD1 variant. Rizzo said all seven of the half-siblings whose parents had them tested have at least one of these mutations.
Neither was inherited from Rizzo, according to the tests, she said. While the research is still preliminary and the donor could have numerous other biological children who are not on the autism spectrum, Scherer says, “our hypothesis is that it’s something in his DNA.”