Meet Daisy Parker, the pint-sized pioneer from Seaton, Workington. At just two years old, she’s already racked up enough medical jargon to fill a textbook, proving that no one in the UK can top her unique brand of rare genetic disorder: Shashi-Pena syndrome. That’s right, folks, she’s the seventh person in the UK to earn this dubious distinction.
Diagnosed with a mutation in the ASXL2 gene, Daisy is part of an elite club known—well, not exactly known since only 55-60 people globally get this fantastic genetic lottery ticket. As a result, the toddler finds herself in a bit of a developmental pickle; she can’t walk or talk, which must be quite the challenge, considering she’s almost three. It’s the kind of “unique” that parents dream of while binge-watching parenting blogs.
Daisy’s parents, Shaun and Danielle, have turned to the American charity ARRE (ASXL Rare Research Endowment) for help since the diagnosis in May 2025. While the family might be stuck navigating the “what now?” waters, the charity is apparently busy trying to make sense of a condition barely acknowledged since its official naming in 2016. Just a little late to the party, right?
Daisy: the cheeky toddler with the power to make anyone’s day. (Image: Supplied)
Describing life post-diagnosis, Danielle remarked, “It’s funny because we have answers, yet none.” You know, like when you finally open a birthday present only to find socks. Daisy’s circumstances have left the family swimming in unknowns, which is, of course, a thrilling way to live. You’d think they’d hit the jackpot with a name like Shashi-Pena, but turns out it’s just a funky term for a slew of medical uncertainties.
Thanks to ARRE—who are apparently on a continuous research binge—Danielle has connected with other families, forming a support group that surely involves frequent lamenting over how long it takes for babies to crawl. “Why can’t she do it already?” echoes between parents as they watch perfectly average kids zooming past their own with a skip in their step and a smile on their face.
Daisy making strides, even if they are just on all fours. (Image: Supplied)
Despite her abnormalities, Daisy is making some strides—or rather, crawling—which makes her a champion in the household. Her antics have earned her titles like “the diva” and “the strong-willed toddler,” which are perhaps just polite ways of saying she refuses to listen to anyone but herself. Oh, the joys of parenting!
In a commendable show of community spirit, Daisy’s family has started fundraising under the catchy name “Daisy’s Diamonds.” This August, they took on the monumental task of walking 2 million steps. Who knew counting your daily strides could come with a hefty price tag? They raised a whopping $2,749—Impressive, given the average person struggles to reach 10,000 steps a day.
Daisy’s aunt, Beth, is joining the effort by training for the Chicago marathon, an endeavor she sweetly calls “well out of my league.” It’s always delightful to see family commitment, especially when you can chuck in some world-famous marathon status. The funds she raises, alongside raffles and local business donations, is turning this into a full-on community spectacle. Meanwhile, the family is showering gratitude on local services and staff who have banded together to support their quest. In the end, Daisy’s story isn’t just about grappling with a rare syndrome; it’s about community, quirky family adventures, and a little girl who’s teaching everyone around her how to laugh—even if it is through tears.
