Nicholas Volker of Monona, Wisconsin, was 3 years old. At that age, the little boy had already suffered over 100 surgeries.
The team of baffled doctors tried one procedure after another. But they didn't know what was wrong, and little Nick just kept getting sicker. His intestines swelled and abscessed. Nothing worked.
The child's doctors could not determine what was slowly destroying the helpless child.
Finally, Dr. Alan D. Mayer, (assistant professor of Pediatrics at the Medical College, and pediatric gastroenterologist with Children's Hospital), sought a possible genetic cause.
In a bold approach, researchers examined the 3-year-old's genes--- all
20,000 of them. The team of scientists and physicians (at the Medical
College of Wisconsin and Children's Hospital of Wisconsin) used genetic sequencing, to try to track down an unknown disease.
They spent three months, and finally discovered one gene with a unique
mutation. Nick's severe bowel disorder came from a 'XIAP deficiency'. The
team had sequenced all the genes in Nick's DNA, to identify a previously-unknown mutation.
With this new direction, Dr Mayer's team performed a blood-cord transplant.
They used stem cells from a matched, healthy donor.
Dr Mayer summed it up: "Exhaustive efforts to reach a diagnosis revealed numerous abnormalities in Nick's immune system, but none pointed to a specific disease. So we decided the next logical step was to sequence his entire exome."
Now, thanks to gene research and stem cell therapy, little Nick is back home. And he's eating a normal diet, without consequences, for the first time in his life.
We must not fear advances in medicine, like genetics and stem cell research, but embrace them. Especially when they save lives!