Jennifer Gallucci had been afraid to find out, but last month, she finally got her answer: Her 2-year-old son, Jude, does not show any signs of autism.
It was a small but important victory.
Mrs. Gallucci and her husband, Bruno, who live in the tiny community of Burgettstown in Washington County, already have two sons with different forms of autism, as well as an older son with an ADHD diagnosis.
It's not that their lives would have been shattered by having another child with autism, they said, but in a schedule already packed with therapy sessions, visiting aides and special diets, the conclusion by a psychologist at the Autism Center of Pittsburgh was a relief.
The examination showed that Jude has a speech delay but otherwise is "neurologically typical," Mrs. Gallucci said. The psychologist "said he didn't see anything indicating autism, and I said, 'I like that. Let's go home.' "
Her son Joe, 10, has moderate autism, and only began to speak in full sentences this year. Her next youngest, 8-year-old John, has Asperger's syndrome, a higher-functioning form of autism, and also has some problems with aggression.
Because of that history, it made sense for the Galluccis to enroll Jude at the University of Pittsburgh's Infant Communication Lab, which is part of a national network of centers studying children who have an older sibling with autism.
In 2011, the Pitt center and several others published a study that showed that nearly 20 percent of those younger children ended up with autism themselves -- far higher than the estimated 1.1 percent rate in the general population.
The study suggests that autism has a strong inherited component, but it doesn't rule out the possibility that some families might have experienced a common environmental exposure.
As with Jill Escher in California, Mrs. Gallucci's mother took fertility drugs when she was pregnant with Jennifer. But whether that has anything to do with her children's autism, or whether her grandfathers being coal miners might explain it, she doesn't know.
"Now all of a sudden autism is snowballing, and what is it?" asked Mr. Gallucci, a plumber who is currently a stay-at-home dad. "Is it toxicity in everything nowadays? Is it vaccinations? Is it food, water? There are so many different variables it's mind-boggling."
Even if the driving force for the Gallucci family's autism is genetic, scientists do not yet have the ability to pinpoint a specific set of genes that are at fault in most cases of the disorder. Scott Selleck, a geneticist at Penn State University, said there are many different forms of autism, and hundreds of genes have been implicated.
"One could make the argument that to talk about a single entity called autism is a bit of a misnomer," he said. "It is quite likely that autism is a disorder that has 2,000 genes, so what do we call it now?"
The Galluccis see that variation within their own family.
After their oldest son, James, 13, was born, Mrs. Gallucci remembered how active and verbal he was. So when Joe was born three years later, her first impression was that in contrast to James, "Joe didn't need constant attention and he hit all of his milestones except for his speech, and I just figured he was quiet. And after Jim talking so much I was happy he was quiet."
In preschool, though, it was obvious Joe had behavior problems. School officials recommended Mrs. Gallucci take him to Children's Hospital of Pittsburgh of UPMC and "at that point I was angry, and I thought, 'I'll take him just to prove you're wrong.' "
After testing Joe, Mrs. Gallucci said, "the doctor left the room, and she came back in and handed me a book and said, 'Your child's autistic,' and that was it. I shut down right then. I had no idea what she was talking about. I don't think I'd even seen 'Rain Man' [the 1988 film starring Dustin Hoffman as an autistic man] at that point.
"Then I cried about it for two to three months."
Soon, her pain turned to anger again, and she vowed that "if you're going to give my child a label, and he's going to be stereotyped and looked down upon, then I'm going to make sure he's going to get all the good things that come with it."
That meant signing up for therapy appointments, special school programs and enrichment activities, a jam-packed life that only became more crowded after John was born in 2005 and eventually got his own autism diagnosis.
Unlike Joe, who still speaks haltingly and has just begun to read, John is articulate, high-energy and fascinated by computer games, especially his favorite, Minecraft. He also has behavior problems at school, Mrs. Gallucci said.
"He's much better in school during structured time; during unstructured time is when I get the phone calls. John has done many, many things in school. John is the bully; he doesn't get bullied. John has started food fights. John has thrown wet paper towels all over the bathrooMrs. John is very loud in the halls. Just mischievous stuff, but now it's getting to be a big deal."
The Galluccis found out a couple of years ago that John has a rare genetic duplication on part of his 17th chromosome, one that has been associated with intellectual delays and autism.
Both boys get in-home visits from therapeutic support staff, known as TSS aides, who spend time helping with daily activities, and from behavioral specialist consultant aides, who can help write treatment plans and go with them to doctors' appointments, as well as from specialized therapists. Altogether, these visits, paid for by Medical Assistance, take up about 11 hours a week.
The Galluccis also have enrolled both boys in numerous outside prograMrs. One of the best, she said, has been the equine therapy sessions Joe has participated in at Horses with Hope, a riding program for special needs children based in South Park and Washington, Pa.
"Within two months of starting there," Mrs. Gallucci said, "Joe was flying through his occupational therapies. His balance increased, his throwing aim, everything just went through the roof. When he's on the horse, he can be having a very bad week, but something about that horse walking calms him down and he's good to go."
Besides managing the family's schedule, Mrs. Gallucci works at an office involved in land purchases for shale gas development. Mr. Gallucci, who recently went back to school for training in cybersecurity, is still looking for work.
What does the future hold?
"I want to see all four of my children with college-educated jobs, living in their own houses with their own wives and children and driving their own cars," Mrs. Gallucci said without hesitation. "I'm pushing for that. The only one I worry about getting to that goal is Joe. Will he get there? I don't know -- but I'm hoping for that.
"Because eventually I'm going to die. Either Joe's going to stand on his own two feet, or one of his brothers will have to help him, and what are their wives going to say? Are they going to want to deal with that? I don't know."
In the meantime, the Galluccis said, they make sure the boys are well cared for and not in the least hidden away.
"We don't have a lot," Bruno said, "but these kids are all fed very well, they play, they are in their community. Right now, we live for them."
"We don't have time to sit around and say 'Oh, autism is so horrible' and you should feel bad for me," Mrs. Gallucci added. "I know a lot of people who do that, who sit and cry about how horrible everything is.
"OK, yeah, it's bad -- let's move on from that."
Mark Roth: firstname.lastname@example.org or 412-263-1130. Twitter @markomar. First Published October 7, 2013 8:00 PM