How many genes does it take to make us human? The exact number isn’t known, but the International Human Genome Sequencing Consortium estimates the human genome to be surprisingly low for our species at just under 25,000 genes.
The problem is, any one of those genes can malfunction in a million different ways, resulting in disabling and sometimes deadly genetic disorders.
It happened to Mason Barto while he developed in the womb. Just one gene didn’t line up right.
The result: A life-threatening rare disorder called Congenital Disorders of Glycosylation (CDG), a disorder that makes it nearly impossible for Mason’s body to maintain enough sugar in his blood to keep his organs functioning.
At age 10, the articulate fifth grader has lived with a tracheotomy, a permanent feeding tube and no hope of recovery since the day he was born.
Mason plays his health problems down. Even though you can hear him breath, he’s learned to talk through his tracheotomy.
“I have low blood sugar and I can’t do a lot. I can’t run for a long time like other people. I have to take sugar drinks five times a day—but it’s cool,” Mason said casually.
But a few months ago, things changed. Mason’s dad recorded video of their son when he found out San Diego researcher Hudson Freeze discovered the gene that caused his CDG.
Tears streamed down Mason’s face as the implications for him and dozens of others with similar disorders became apparent to him.
His mother Mindy Barto said they asked him what he wanted to do.
“He said he wanted to come and meet doctor Freeze and shake his hand—so that’s why we are here in San Diego,” she said.
Along with others who have rare genetic disorders, Mason took a tour of the lab and talked to the researcher who discovered the gene responsible for his severe medical problems.
Freeze is the director of the Genetic Disease Program at Sanford-Burnham Medical Research Institute.
“Discovering Mason’s gene sets us up to go back to the basic science and to say here’s something we never even thought about before,” Freeze said.
Researchers now use the gene discovery to alter Mason’s treatment and look at new therapies for rare and common genetic diseases.
“Rare diseases really provide a Rosetta stone for understanding much more about physiology and much more about common disorders,” Freeze said.
Mindy Barto said the discovery and ongoing rare disorder research makes the family hopeful.
“He proved from day one that he’s gong to beat this,” she said.
And he may be helping others around the world, said Dr. Eric Green, the director of the National Human Genome Research Institute at the National Institutes of Health in Washington D.C.
“We have now set up several specialized centers who will take in samples in from around the world of individuals with very rare genetic diseases. We use state of the art genome sequencing technologies that we believe we can industrialize the elucidation of the genetic cause of rare genetic disorders.”
In the meantime, Mason took advantage of his trip to Southern California. With a breathy smile he bragged about his recent adventures.
“We went to Legoland, Disneyland, the zoo and Sea World,” he exclaimed.
When asked if there was anything else he wanted to tell the world, he said he lives by his best friend’s motto: to take a chance.
“I have a dog, his name is Chance. He’s my best friend.”
