Rare Genetic Condition Diagnosed in Six-Month-Old UK Baby After Parents Faced Termination Advice
A Merseyside couple is navigating the challenges of a newly diagnosed rare genetic condition in their six-month-old son,Ace Quayle,after being initially advised to terminate the pregnancy. Lexi Krater and 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 birth.
The couple faced a tough decision when doctors suggested terminating the pregnancy after detecting anomalies. “It’s basically a form of dwarfism, so it’s going to just be a case of watch and wait, seeing if he gets 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 UK with the condition until now.”
Currently under the care of Alder Hey 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 apnoea.
Driven by the isolation she felt during her pregnancy and early motherhood, Lexi has established “Ace’s Community” on Instagram and TikTok. The online platform aims to connect and support parents and families facing similar illnesses and 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 to have that contact with other families going through similar situations,” Lexi said. “It just helps you feel less alone. It helps you feel like you’ve got other people out there that are going through similar situations.”
Lexi hopes to raise awareness of the support network available to families navigating rare diagnoses. more information about Ace’s Community can be found here.