AURORA - It took a few weeks for Deana Watson to realize something just wasn't quite right with her newborn son. Little did she know at the time that it would take nearly ten more years for a doctor to be able to give her son's disease a specific name: Cobalamin X.
Researchers at the University of Colorado School of Medicine and Children's Hospital Colorado finally published a study documenting the novel disease.
Cobalamin X is a metabolic disease that relates to a patient's inability to properly process vitamin B12. Because it's only recently discovered, there are only 14 known patients worldwide. It also means Max Watson, 9, is now patient No. 1.
"By all medical reasons, he should not be here," Deana Watson said. "He's taught me patience, he's taught me to be tougher, and he's taught me to advocate for him and myself."
"When you are in charge of someone who can't speak, you find your voice pretty quick," she added.
The discovery of her son's genetic disease is unlikely to change Max's uncertain prognosis. She says it merely provides the final puzzle piece in a long-term effort to understand the root cause of Max's condition.
"As of now, however, we're still putting that puzzle together," she said.
What it does do, she said, is provide her and her husband Steve with a sense of satisfaction that years of trials and research have yielded an important clue in an ever-expanding world of genetic disease diagnosis.
"Every metabolic clinic in the world is going to hear about this," she said. They will find other patients. She's sure of it.
"This is an amazing find," said CU researcher Tamim Shaikh, PdD, a geneticist who played a pivotal role in the discovery of Cobalamin X. His work is highlighted in Thursday's American Journal of Human Genetics.
The "X" comes from the X chromosome and it is thought it only impacts males.
"All of the patients we have found are boys. In women, because they have two X chromosomes, the good (X) copy compensates."
Dr. Shaikh said the mutated gene in Max's case came from his mother's side.
"The hope is, based upon the experiments currently ongoing in my laboratory and those of my colleagues, we will understand how this gene (in general) really works," he said. "Hopefully in some distant future we will even find a cure for it."