A Boy with an Extremely Rare Disorder was Finally Diagnosed Thanks to a Typo

According to a story from the TGen Blog, a simple typing mistake lead to a diagnosis for a boy with an incredibly rare genetic disorder. In fact, this disorder is so rare that the patient, named Alex Yiu, is one of only 19 recorded cases known in medical history. It was the year 2010, when Alex was aged five years, that he first began to show signs of his disease. 

Serious Symptoms Emerge

Though once an energetic and active child, he soon became to lose his coordination and by the time he entered the first grade he was already wheelchair-bound. His symptoms continued to progress as Alex displayed difficulties with speech and swallowing, and he was given a feeding tube in 2014. The boy also suffered from seizures and severe muscle spasms. Alex had his genome sequenced at the Translational Genomics Research Institute (TGen) in 2012, but at that time the procedure failed to identify a mutated gene that could be linked to his steadily worsening symptoms.

A Stroke of Luck

More recently, the Clinical Co-Director at TGen, Keri Ramsey, was looking up another patient’s data when a typo resulted in the opening of Alex’s file instead. Out of curiosity, she entered Alex’s data into the software system that automatically compares as patient’s info with the latest scientific discoveries. A match with one of Alex’s mutated genes popped up: IRF2BPL. 

The recently described illness that Alex has is so newly discovered that it only goes by the rather simplistic name of IRF2BPL-related disorders. There are 300 other cases like Alex’s at TGen, where a patient has had their genome sequenced, but no diagnosis has been determined. The random discovery has inspired the organization to take a second look at some of these other mysterious cases of undiagnosed patients.

However, this endeavor requires funding, as it costs $1,000 to reopen a case. At the recent Evening of Trends Gala, a paddle raise style auction raised $67,200 that was matched by Anton’s Challenge Fund; this will all go towards the reopening of cold cases. Hopefully, these efforts will unearth more new diagnoses for patients like Alex.

 


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