After Brush with Rarest Genetic Disorder in the UK Belfast Girl Meets Developmental Milestones
A toddler in Northern Ireland has survived a harrowing brush with death due to the rarest genetic disease in the UK.
Overcoming months of intensive care and potentially significant brain damage, she is now hitting crucial developmental milestones that her mother described as nothing short of a miracle.
Callie McKinney from County Down seemed for all the world like a normal infant girl, until she went into cardiac arrest, reports Belfast Live in an exclusive story.
The doctors told her parents to expect the worst—that she may not last the next 48 hours, but time and time again the doctors were proven wrong. After a six-month stay in the Royal Belfast Hospital for Sick Children, Callie was finally discharged: a defibrillator implanted in her chest, a once-in-a-nation diagnosis, but alive and chippy.
“For the first year of her life, Callie was a healthy and happy baby girl and we never imagined the difficulties that she would face,” said Callie’s mother Caitlin to Belfast Live.
“Callie is the only person in the UK who is currently diagnosed with a very rare genetic condition called PPA2, which will leave her at risk for the rest of her life, especially if she consumes any sort of alcohol. She is also at risk if she ever gets sick and even having the slightest temperature can be very dangerous for her.”
But this little star of the County Down has met critical developmental milestones on time, including sitting up, eating solid food, and learning to walk.
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“We were told that Callie would be severely brain damaged as a result of what she went through and would essentially have no quality of life going forward, but the resilience that she has shown is nothing short of a miracle,” said Caitlin.
Callie’s doctors have used the experience of treating the girl to try and improve the diagnostic accuracy of PPA2. According to Caitlin, similar cases to Callie’s have been put down as “Sudden Infant Death Syndrome,” but being that Callie survived the death part long enough to be diagnosed with the genetic disorder PPA2, it’s possible a number of the SIDS cases were actually PPA2.
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“In order to try and raise money for research into PPA2 and the Children’s Heartbeat Trust, later this year I am going to be running the Belfast Marathon and will be donating everything to the incredible charity,” said Caitlin.
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