‘I’ll keep that email forever’
A QUEENSLAND doctor has helped identify a new genetic disorder which is so rare it has only been found in three children worldwide, including two of his patients.
Professor David Coman, a respected paediatrician, worked with experts from across the world to pinpoint the cause of the debilitating condition, which results in severe disabilities, including physical malformations, poor eyesight and learning problems.
They found the children, two of them siblings, have defects in a gene known as FDFT1, which affects the production of cholesterol.
The brother and sister, aged seven and 10, are unable to walk or talk.
Although the condition cannot be treated effectively, the siblings' mother has written to Professor Coman expressing her heartfelt thanks for the researchers' work in identifying the cause of her children's disorder, which is yet to be officially named.
"It was a lovely email that I'll keep forever," he said. "She was grateful that we cared enough about her kids to try to figure out their disorder.
"The gist of her email was that even though there's little that we can do for her kids, the fact that people kept pushing and pushing for an answer makes her kids important."
Professor Coman, who divides his time between the Lady Cilento Children's Hospital and the Wesley Hospital in Brisbane, is an enthusiastic Batman and Star Wars fan, but describes the real super heroes as his patients and their families.
He worked with medical specialists and researchers in the US, the Netherlands, Melbourne and Sydney on identifying the new disorder, which results in a deficiency in an enzyme called squalene synthase, important in childhood cholesterol production.
Cholesterol is critical for normal development in the womb and in young children.
"We all know that too much dietary cholesterol is a bad thing, but not being able to produce enough cholesterol is worse," Professor Coman said.
The research, published in The American Journal for Human Genetics, revealed abnormalities in the children's urine, a finding expected to lead to further cases being identified.
Professor Coman said the study had allowed the two families identified as having children with the condition to connect so they no longer felt as isolated.
He said further research into how the genetic defect blocked cholesterol production may assist in the development of new cholesterol-lowering drugs.