Rare Genetic Condition โคDiagnosed in Six-Month-Old UK Baby After Parents Faced Termination Advice
A Merseyside couple โขis navigating the challenges of a newly โฃdiagnosed rare genetic condition in their six-month-old son,Ace โขQuayle,after being initially advised to terminate the pregnancy. Lexi Krater โขand Luke Quayle of merseyside,UK,learned of Ace’s condition – a form of dwarfism currently seen in only a handful of cases,primarily in the United States – following his โbirth.
The couple faced a toughโ decisionโข when doctors suggested terminating the pregnancy after detecting anomalies. “It’s โbasically a form of dwarfism, so it’s going to โjust be a case of watch and wait,โ seeingโค if he getsโค his milestones, keeps growing and everything else,” explained Lexi. “Every othre case I’ve seen has been in America. I’ve not seen anybody else in the โคUK with the condition until now.”
Currently โunder the care of Alder โHey Children’s Hospital, Ace is undergoing regular outpatient appointments with the skeletal team. Doctors are considering a treatment to rebuild his nose bone, which currently presents as a crack, to improve his breathing and address sleep โฃapnoea.
Driven by the isolation โฃshe feltโ during her pregnancy โand early motherhood, Lexi has โขestablished “Ace’s โฃCommunity” on Instagram and TikTok. The online platform aims toโข connect and support parents and families facing similar illnesses โand genetic conditions.
“It was so difficult for me when I was going through the pregnancy, the birth and everything else that we’ve still got to come, so it’s just nice for me toโค have that contact with other โขfamilies goingโฃ through similar situations,” Lexi said. “It just helps you feel less alone. It helps you feel โlike you’ve got โother people out there that are going through similar situations.”
Lexiโค hopes to โคraise awareness of the support network available to families navigating rare diagnoses. โmore information about Ace’s Community can be found โฃ here.