Byron family hopes their DNA helps unravel autism
About two years ago, Amanda Callies and her twin sons submitted vials of DNA to SPARK for Autism, a nationwide study with a site at the University of Minnesota.
It’s not the first time they’ve sent mouth swabs, questionnaires or even vials of blood to testing centers.
The Byron family has participated in up to 50 studies and questionnaires for the better part of the past decade, as they try to stay on the cutting edge of autism research and treatment.
“If I, as a parent of a child with autism, can do anything to help that research, I want to try,” Amanda Callies said. “It may not help my family; it may be generations down the road, but I want to try.”
That long-term perspective is exactly what the SPARK for Autism has in mind. The University of Minnesota, one of 25 regional sites for the study, has been part of collecting the genetic information of about 1,500 families in this region.
SPARK wants to collect information from about 50,000 families nationally. They have about 13,000 so far.
The goal? Identifying the genetic factors that cause autism.
That’s harder than it sounds, according to SPARK, because there could be up to 1,000 genes with a hand in the condition — and we only know about 100 of them.
Dr. Suma Jacob, the director of the University of Minnesota’s autism research program, hopes that number will grow.
Recently, they’ve increased their focus on areas outside the Twin Cities, Dr. Jacob said.
“With a lot of complex disorders, the bigger the number you get, the better it is, because it give you the power to look at a lot of subgroups that cause a very small number of people to have the symptoms,” she said.
Getting whole families involved helps the researchers learn how the disorder occurred in one person versus another, Dr. Jacob said. Genes related to autism could spontaneously occur, or they could be passed down through families. The siblings of people with autism also might carry those genes.
Knowing whether her son Daniel carries genes for autism is important, Amanda Callies said.
As fraternal twins, Jacob and Daniel aren’t any more closely related than other siblings. But Amanda Callies thinks their situation — being raised in the same environment their whole lives, with little variation until Jacob was diagnosed with autism at age 3 — could reveal environmental factors.
Jacob doesn’t always understand research participation, Amanda said, but Daniel does.
“If they can make a cure — I don’t know if it’s possible — but I thought some research might help them,” Daniel said.
Usually, a large study lasts three to five years, and participants only get research back during that time period, Dr. Jacob said. But the SPARK study hopes to send findings to families for as long as they remain involved.
The Callies family hasn’t received any research back yet, Amanda said. She hopes the university will find new treatments soon, especially for Jacob’s sleep issues.
Aside from some behavioral quirks, Jacob wakes up about 20 times a night, she said. Some of those instances are only for about 10 minutes, but others are longer. The subsequent exhaustion takes a toll.
“You can really understand why he has a bad day, sometimes,” Amanda said.
Controversy over a cure
“Obviously, what causes autism, a cure for autism, those are huge things I would love for them to find,” Amanda said. “I would love for them to find them tomorrow — but I don’t know how long that will be, so I try not to get my hopes up.
Finding a cure for autism is controversial. It’s a complex disorder, and people with autism have varying levels of ability, Dr. Jacob said.
“We have some people in leadership positions and technology who have some of these symptoms or traits, who really value the individual differences and unique perspectives it offers,” she said. “And we have some individuals who are severely disabled and have a lot of challenges and need full-time care their whole life. When you get any disorder with that much variation in functioning, there are a lot of challenges then. What do you want to offer?”
The benefit in understanding autism genetically could be targeting different areas of the disorder, Dr. Jacob said. In some populations, autism is linked to obesity and weight gain, which could be targeted genetically.
“It’s not this target of eliminating differences, which is sometimes what I think people fear,” Jacob said.
For now, the university is just trying to recruit more families into the study — especially from rural areas.
And for the Callies family, the next step will be navigating sixth grade. Jacob is verbal and intelligent, Amanda said, and he loves to read. He’ll attend Beacon Academy this year. Daniel will go to Hayfield, where he prefers math.