A Boy with an Extremely Rare Disorder was Finally Diagnosed Thanks to a Typo
Yahoo news just published article regarding IRF2BPL disorder.
Belkin L. (2019) “DNA Detectives: New Tech can mean a diagnosis for your child, but not a lot of answers”, Yahoo News, 26 July. Available at: https://news.yahoo.com/in-unknown-territory-parents-get-a-roadmap-from-undiagnosed-diseases-network-090000192.html
After more than 10 years with no diagnosis, in the fall of 2018, by miraculous intervention, Alex was a cold case revisited at TGen’s Center for Rare Childhood Disorders and this yielded a diagnosis! See full interview at The ASHG Annual Conference in 2018 here:
(2017) “Alex Undiagnosed: A Neurodegenerative disease goes unsolved”, Global Genes 1 March, Available at:
Thanks to the team at Cecily's Closet as well as the help from the Multi Age Class (MAC) at The Cardiff School, Alex was able to get a room makeover recently. Alex's favorite movie is Star Wars so it will come as no surprise that this was the theme he selected for his new room. Alex was becoming too heavy to carry up and down stairs so Cecily's Closet helped his family transform their dining room into a new space for Alex to enjoy.
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The Undiagnosed documentary production team, Boston Children's Hospital and Illumina launched the Clarity Undiagnosed Challenge to gather the world's top research teams in a contest to diagnose 5 patients whose medical mysteries have baffled physicians.
(2015) Clarity Undiagnosed Family & Results
Goldberg.C (2015) "Calling all gene detectives: Solve Diagnostic Mysteries to win contest. Play role in film." WBUR, June 19. Available at:
It was a weekend of fun and joy together with other undiagnosed families at The National Ability Center in Park City, Utah.
After more than two years of extensive testing, Alex is still undiagnosed for a progressive neurodegenerative disease that slowly over the course of the past 15 months has taken away Alex’s abilities to walk, write, talk, sit, feed himself and even to play and build with his favorite toys. The progression of the disease continues.
We received the package with the beautiful bracelets just before the bittersweet news that Alex is now aspirating certain liquids and may need a GI tube and the confirmation of a consultation at The Mayo Clinic.
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