Children who Can't Cry Reveal Newly Discovered Genetic Disorder

With the help of the Human Genome Project, health officials have been better able to identify new genetic mutations and genetic disorders. And for Grace Wisely, a new discovery pinpoints to why she can't cry.

At birth, Grace's combination of symptoms were different than any known condition. She was lethargic and her eyes seemed hollow and unfocused, according to CNN. She also refused to eat, yet as doctors initially found nothing wrong with the girl, she was taken home.

Yet as she grew older, other symptoms occurred. She exhibited troubling signs of motor and cognitive development--falling much shorter than other children her age. She had hypotonia, otherwise known as a condition that made her constantly like a rag doll.

It took travels around the country to further determine the health issues that the little girl was suffering from. It was when her family met Matthew Brainbridge, who studies structural and computational biology and molecular biophysics in Baylor's Human Genome Sequencing Center, that health officials discovered a severe mutation in Grace's NGLY1 gene.

Through their findings, researchers also discovered that one other patient had a similar issue-a young child who showed similar symptoms to Grace's, and was also, unable to cry.

Researchers discovered that children with this genetic disorder carry mutations in the gene coding of N-glycanase 1. They found that children who have an abnormal NGLY1 gene do not typically make the N-glycanase enzyme that help to break down incorrectly shaped proteins. The team also found amorphous substance in the childrens' liver biopsies.

Yet thanks to this discovery, families with a child suffering from the issue can look into investigational treatments.

"With a diagnosis, we can start working on a cure or a way to alleviate some of Grace's symptoms," said her mother Kristen Wilsey, via a press release. "It's hard to describe that feeling. When we got the news, we were so excited that neither of us could sleep."

More information regarding the findings can be seen via the journal Genetics in Medicine.