With a cure for autism still a long way off, families have come up with their own ways of coping with the symptoms they face everyday.
Heather Cannon of Murray has three boys on the autism spectrum. Her eight-year-old son Neil started showing signs of extreme distress during his first Christmas. She recalls him shrieking as if in pain at the sound of family members unwrapping presents, and to this day he still has difficulty handling sensory stimulation. At five-years-old, he was diagnosed with Asperger Syndrome, a higher functioning form of autism spectrum disorder. By this time, Cannon’s toddler twin boys, Evan and Dylan, now six, were displaying symptoms of their own.
Affecting one in 88 people nationwide, autism is a complex disorder with a diverse array of symptoms. She and her husband have learned over the years that if Neil starts to become aggressive it’s likely because his stomach hurts. “People think of [autism] in terms of a mental issue, but it’s systemic, affecting gastrointestinal systems, vision, social skills, and behavior,” says Cannon.
This reality can make families feel helpless and since the risk factors for autism in the majority of patients are still unknown, each family finds their own ways to cope.
One Parent Helps Search for a Cause
In the 1970s, a time when even less was known about autism than now, Utah mother Carmen Pingree learned that her son was autistic. Pingree suspected autism ran in her family, but since older generations hadn’t been tested, there was no way to know for sure. “You could go back and say, ‘My aunt had cancer,’ but you couldn’t do that with autism,” she says.
Taking matters into her own hands, she corralled the department of social services, and special education and residential programs, tracking down 400 people with autism-like symptoms. She poured through their family histories, scrawling names on index cards and clipping families together.
Today, University of Utah professor of psychiatry Hilary Coon is confirming and expanding Pingree’s findings. She is adding them to the largest pedigree database of its kind, the Utah Population Database (UPDB), aligning family trees with the medical histories of 7 million Utahns.
Families like Pingree’s and Cannon’s are crucial for understanding autism. “If you get a family that looks like it has a high occurrence of some disorder and they share DNA, then it’s possible that there is a genetic mutation that leads to susceptibility,” explains Coon.
The search is complicated because risk factors don’t predict the disease, but rather predispose someone to developing it. What’s more, over 50 genetic risk factors have been identified and Coon says researchers suspect there may be hundreds more. Further, environmental factors are also likely at play. One focus of Coon’s work is using UPDB data to investigate whether autism could result from exposure of a pregnant mother to illnesses or toxins that may affect her baby. Decades from now, answers to these questions may lead to new ways to diagnose the disease and treat patients.
New Genetic Tests Help Families Understand Symptoms
With a cure in the distant future, families do what they can to deal with the symptoms they face every day. “Our kids are impacted in so many different ways,” says Cannon. She recently found out that her oldest son might have Ehlers-Danlos syndrome, a connective tissue disorder that frequently co-occurs with autism. Like Neil, many individuals on the autism spectrum suffer from additional disorders, making their lives even more difficult.
Michael Paul, President and CEO of Utah-based diagnostics company Lineagen, says his company has devised a genetic test that can pinpoint additional disorders found in autism patients, which sometimes directs families toward more successful therapies.
One of the first patients to receive the test had been undergoing speech therapy, but showed little progress. The test showed he had a neuro-genetic disorder that affects speech and intellectual capacity. “Children with Angelman Syndrome rarely learn to speak,” says Lineagen senior manager Chuck Hensel. “Rather than spending all that time and money for that child to be in speech therapy, the family could focus on alternative communication therapies.” Paul says the mother later called him up in tears, thanking Lineagen for changing her life.
Not all findings are as definitive. “We do see markers for which the clinical knowledge isn’t as well developed as others,” says Paul, but genetic counselors help families put the results into context.
Lineagen scientist Karen Ho explains that she and her colleagues monitor new genetic research constantly and inform the patients’ clinicians as studies come out that might shed light on markers identified during testing. For instance, scientists recently linked a previously unexplained chromosomal deletion to a four-fold increased risk for glaucoma. “We were able to contact those patients’ doctors and suggest that their eye health be monitored closely,” Ho said.
After recently adding more markers to an existing genetic test, Lineagen will also now be able to determine if individuals carry certain risk factors for autism. However, only 12% of individuals with the disorder are expected to benefit from the test and experts warn that at this time it is unclear how those results might help with treating patients. Until more effective diagnostic tests and better treatments become available, families like the Cannons will continue to take one day at a time.
photo credits: Heather Cannon