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Serendipitous Diagnosis: Cold Case Solved

A typo in a records request resulted in TGen's Center for Rare Childhood Disorders finding a long-sought diagnosis for one of their first patient-families.

A typing mistake solved one of TGen’s first medical mysteries.

Alex Yiu was an energetic, bubbly boy, who loved playing with his Power Rangers action figures and bounding around the park, but in 2010, around age 5, he began to stumble when he walked.

He entered first grade in a wheelchair.

Slurred speech, painful muscle spasms, and seizures came next. On New Year’s Eve 2014, he had emergency surgery to place a G-tube so he could eat. Palliative and hospice care followed.

But no one had an answer — including the genomics experts at TGen’s Center for Rare Childhood Disorders.

“When over 30 of the best medical centers around the world looked at your child’s genome, and no one can find an answer, that’s incredibly scary for a parent,” explained Keri Ramsey, Clinical Co-Director for the Center. “You don’t have a name for the disease and you don’t know what is happening to your child.”

Alex was one of the very first children to undergo genomic sequencing when the Center opened in 2012. The TGen team identified a handful of mutated genes but could not pinpoint the exact cause of his neurodegenerative disorder. Fast-forward six years, and everything changes due to a typo.

In September of this year, a different patient was coming to the Center for a follow-up and Medical Director Dr. Vinodh Narayanan asked Keri to re-analyze that patient’s data. Except a typo on the medical ID-number led her to Alex’s file.

“Because of that innocent error, I looked at Alex’s data instead,” Keri recalled.

She plugged Alex’s file into the Center’s new software that pulls the latest findings from the scientific community, and a mutation in one of Alex’s genes — IRF2BPL — popped up in relation to a recently identified disorder, which had been described in an August 2018 scientific journal.

“Alex is now one of 19 patients worldwide with this disorder,” Keri said. “This disorder is so new that there is currently no cure, but with this diagnosis, we were able to refer Alex’s family to the world’s leading authority on this gene. They know they’re not alone.”

There are more than 300 children just like Alex, who have had genomic testing at TGen’s Center for Rare Childhood Disorders, but have not received a diagnosis. When funding permits, the Center will apply new methods and technology to reanalyze these so-called “cold cases.” Typically it costs about $1,000 to reopen a case.

Inspired by Alex’s story and the serendipitous discovery of his diagnosis, the Trends Charitable Fund set an audacious goal of clearing the “cold cases” at its annual Evening of Trends Gala, held on October 12 at the Omni Montelucia Resort in Paradise Valley, Ariz. The evening honors 10 Trendsetters, a group of dynamic women who support causes throughout Arizona.

An innovative “paddle raise” auction generated $67,200 to fund the re-analysis of cases like Alex’s. Proceeds from the paddle raise were matched dollar-for-dollar by the Anton’s Challenge Fund enabling the re-analysis of almost half of the Center’s backlog.

“The Evening of Trends is about honoring women who are leaders in philanthropy and leaders in our community,” said Vicki Vaughn, chair of the Gala, “So it was no surprise to see the Trendsetters and their supporters answer the call to help other children like Alex find the answers they are desperately looking for."

The Evening of Trends raised more than $300,000 overall for TGen’s Center for Rare Childhood Disorders and also its ovarian cancer research, as the Trends Charitable Fund is committed to causes that help women and children.

On #GivingTuesday, November 27, all donations to TGen's Center for Rare Childhood Disorders will be DOUBLED to find answers for children like Alex. Give Today at tgen.org/givingtuesday!


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