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PARK CITY -- With family gathered from around the country Bertrand, nicknamed Buddy, celebrated his 5th birthday at his grandparents' house in Park City.
This month's birthday and Christmas are not just victories of survival for another year, but also bring cautious hope, especially for his parents who now know something about their son they never knew before.
Bertrand inherited two recessive genes that block his body from making an enzyme. Without it, his brain and nervous system are not developing. The disorder also affects his organs. There's nerve damage and seizures.
Nobody knew what was going on until very recently, when Duke University researchers made the unique discovery through what is called a "functional analysis" of the boy's cells. What he inherited from his parents, Matthew and Cristina Might, was extremely unlikely.
It's not even just across state lines, it's literally across countries. Everybody is coming together, reaching out.
–Cristina Might
"My son was the first-ever documented case of this disorder in the medical literature," said Matthew. "Normally, for a disease like this you have the same mutation pair back up with itself. We have different mutations in the same gene, which is even more unlikely."
Since Bertrand's diagnosis, the gene has been discovered in two others in the world -- making it about a one in two billion kind of disorder, which though rare, can now be identified. The door has also opened now for early pre-birth testing and research for possible treatments.
After Bertrand's story initially hit the internet - the response was overwhelming.
"I think within 48 hours, the story I wrote had been read over two million times," Matthew said.
It was read by everybody, including the scientific community. As Matthew said, "They all emailed us and said we know something about your son. Honestly, it was overwhelming."
After Duke University's diagnosis, geneticists and biologists responded, all wanting to get involved in this Utah case.
"It's not even just across state lines, it's literally across countries," said Cristina Might. "Everybody is coming together, reaching out."
Even Bertrand's sister, who did not inherit the disease, reaches out, communicating with her brother in her own unique way.
On the second floor of Macy's downtown store, in a special mailbox, Bertrand and his sister Victoria sent off their letters to Santa. In both letters, there was only one thing on the wish list - a cure for Bertrand's disease.
While scientists look for a treatment that might plateau the disorder, a 50/50 chance - or even reverse it, a 25-percent chance - Bertrand is showing some subtle improvements, taking a special prescription of antioxidants.
Though not a cure, this is something the Mights can now do for their son after years of not knowing.
"As parents you need to kiss and make it better, but early on when you would hold him, he would just scream because of his sensitivity to touch," said Cristina. "We felt we were failing him as parents."
But now with a diagnosis and the possibility of even more definitive treatments, hope remains strong. Matthew and Cristina know even though researchers might not save their son, they will in the end save others.
"It's made me more hopeful," said Matthew. "It's made me believe that sometimes more than you think is possible is possible."
While the FDA does allow for investigational use of a new drug, it requires a team of researchers headed by a Ph.D. to follow Bertrand's case, searching for such a therapy. That has a hefty price tag, costing more than $125,000 per year.
