Ho-ho-ho! Gather ’round, my little elves, for I have a yuletide tale most unusual, not of reindeer and sleighs, but of genes and chromosomes. In a land not so far away, there lived a young lass of seven, not unlike the children eagerly awaiting my visit come Christmas Eve. But this dear girl faced challenges most extraordinary, for she was touched by a rare spell known as X-linked hypophosphatemia (XLH), a condition as tricky to pronounce as it is to treat!

XLH, my curious friends, is a mischievous gremlin that sneaks into the PHEX gene, causing all sorts of havoc like renal phosphate wasting, a fancy term for when the kidneys decide to go on holiday, leaving the body low on phosphate. This, in turn, leads to hypophosphatemia, a word so long it could stretch from the North Pole to the South! It also meddles with vitamin D metabolism, stunts growth, and bends the lower limbs like candy canes.

But wait, there’s more! This particular sprite had conjured up a never-before-seen spell, a de novo non-canonical splice variant (c.1080-3C > G) in intron 9 of the PHEX gene. It’s as if someone shook the genetic snowglobe, and out popped a new flake, unique in its pattern. And as if that wasn’t enough, our brave girl also faced scaphocephaly, where the head is shaped like a sleigh, Chiari syndrome type I, and syringomyelia, which sounds like a festive syrup but is far less sweet.

So, as we sip our cocoa and hang our stockings, let’s send our warmest North Pole wishes to this courageous child and all those facing their own battles, may they find comfort, joy, and a touch of Santa’s magic this holiday season. Merry Genetics, one and all!