A toddler in Northern Ireland has survived a horrific ordeal with the UK’s rarest genetic disease.
After spending months in intensive care and suffering potentially significant brain damage, she is now reaching crucial developmental milestones that her mother described as a true miracle.
Callie McKinney from County Down seemed to everyone like a normal little girl, until she suffered a cardiac arrest, reports Belfast Live in exclusive history.
Doctors told her parents to expect the worst: that she might not last the next 48 hours, but time and again, the doctors were wrong. After a six-month stay at the Royal Belfast Hospital for Sick Children, Callie was finally discharged: a defibrillator implanted in her chest, a unique diagnosis in a country, but alive and kicking.
“For the first year of her life, Callie was a happy, healthy little girl and we never imagined the challenges she would face,” Callie’s mother, Caitlin, told Belfast Live.
“Callie is the only person in the UK who has currently been diagnosed with a very rare genetic condition called PPA2, which will put her at risk for the rest of her life, especially if she consumes any alcohol. . She is also at risk if she ever gets sick and even the slightest temperature can be very dangerous for her.
But this little star from County Down reached critical developmental milestones on time, including sitting up, eating solid foods and learning to walk.
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“We were told that Callie would suffer severe brain damage as a result of what she experienced and would have virtually no quality of life in the future, but the resilience she has shown is not nothing short of a miracle,” Caitlin said.
Callie’s doctors used the experience treating the young girl to try to improve the accuracy of diagnosing PPA2. According to Caitlin, cases similar to Callie’s have been referred to as “sudden infant death syndrome,” but given that Callie survived death long enough to be diagnosed with the PPA2 genetic disorder, it’s possible that a a certain number of SIDS cases are actually PPA2. .
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“To try and raise money for research into PPA2 and the Children’s Heartbeat Trust, later this year I will be running the Belfast Marathon and will be donating everything to this amazing charity,” Caitlin said.
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