Written by By Loic Mérite, for CNN
The latest installment of a 15-part series for CNN In the Field examines why researchers have largely ignored the chronically ill for decades. But recent news about a genetic disorder that affects more than 300,000 young children – known as trisomy 21 – has changed that.
The disorder presents itself as an array of fatal and debilitating chromosomal abnormalities, but will invariably lead to mental disabilities and potential mental illness in many cases.
Critics worry that these rare, short-term consequences don’t get the attention that new, sustained threats to children’s health and safety do.
Actress and filmmaker Amaury Nolasco (pictured above), a friend of Tom Brokaw, was a child living with trisomy 18 when the genetic disorder began to take its toll. “I spent my childhood being like a trauma survivor, getting in cars, trucks, trains, buses,” he said. “As long as I had air in my lungs, I was ok.”
The problem
The disorder is the most prevalent chromosome abnormality and the most prominent genetic cause of autism. Previous research into the disorder has focused on the short-term effects of Trisomy 18.
“There’s a lot of attention paid to the behavioral/sociological aspects of Trisomy 18, a lot of emphasis paid to the problems that I’m concerned about,” explained Dr. Amy L. Fingleton, a paediatric neurologist at the New York University Langone Medical Center. “A lot of people end up writing and speaking about it more to look at what’s wrong with that particular subset of [people].”
However, there are significant, long-term risks that the disorder is completely undiagnosed and undertreated.
“This can be exacerbated when we don’t have comprehensive information for diagnosis and treatment,” said Melissa Pusateri, clinical director of the Comprehensive Child Health Comprehensive Network. “For [treatment], the first concern is quality of life. Life quality is really important. So we need to be able to manage these developmental and behavioral problems in a safe, effective way.”
“The lack of awareness of trisomy by both the medical community and the general public poses great threat to [tricorder] treatments. Our forefathers created the tricorder because we wanted to help people,” said George Wendt, a sign language interpreter and outspoken disability rights activist. “I am the son of a pediatrician so I know what I’m talking about. The failings of the health system I observe today are completely due to ignorance.”
A test
The collaborative approach developed by Kristin Williams, a professor of Child Neurology at UCLA, seeks to bridge the gap between children with the condition and pediatricians.
“I’ve actually written a genetic test that can definitely diagnose Trisomy 14. That test has been on the market since 2003, and we have taken away the need for that piece of the test,” said Williams.
If diagnosis and treatment are carried out promptly, the challenges can be minimized significantly. According to research findings by Dr. Fingleton, the youngest children with Trisomy 13 are “at the highest risk of suicide because they’re getting significant behavioral problems. And we will lose them. That’s just the order of the day,” she said.
Currently, the only way to diagnose the disorder is to undergo invasive testing. The FDA-approved Trisomy 14 test is effective in only about 10% of individuals diagnosed with the disorder. Additional tests by the Department of Defense are meant to improve the accuracy of Trisomy 11 and 13 diagnoses but have not yet received FDA approval.
Reasons for treatment
The principle of symptom management is key to the overall treatment, said Dr. Fingleton. However, children with Trisomy 14 exhibit developmental challenges that can result in moderate to severe symptoms, including hyperactivity and attention span problems.
“Just as every human child is different, so are the symptoms of trisomy. So there is a way to address both, but not immediately,” said Dr. Fingleton.
One significant step in improvement came from an off-the-shelf genetic test, the T-1 test, developed by Williams. It analyzes the teratogen Trisomy 13 in the blood and culture. The test has been credited with cutting up to 60% of the need for invasive lab tests with recent revisions that identify specific chromosomal abnormalities.
“It may just change the faces of the parents, having a new test to find out that they actually have this for their child. And the small amount of the costs required to