A mother of a 2-year-old girl who was diagnosed with an ultra-rare genetic condition has shared her heartbreak.
28-year-old Emily has revealed that her daughter Sabrina Rose Sager has Pura Syndrome, an extremely rare condition that affects only around 400 in the world.
According to Hull Live, people have higher chances to win the lottery than to be diagnosed with the condition.
Speaking to Hull Live, Emily said: “Knowing my daughter might not be able to say ‘mommy’ breaks my heart.”
Sabrina also has sleep apnea, epilepsy, and type 1 diabetes.
“The doctors just ask about it and don’t even know what it is,” Emily expressed. “It shouldn’t be me telling qualified doctors what this condition is.”
Pura Syndrome is so rare that there are no charities in the UK funding research into it.
In the US, many children who were diagnosed with the condition have passed away before the age of 5.
Emily and her husband Adam, 29, noticed that something was wrong shortly after their daughter was born.
“By six months she couldn’t babble – it was like she was still a newborn,” Emily said.
“Her legs were so skinny so we had to get physio involved, but because by this time we were in lockdown the appointments had to be over the phone which was really frustrating.”
Emily has been knitting stuffed toys and giving them to friends and family in an attempt to get people talking about the rare condition.
“It’s like starting from scratch as there’s no charity in the UK to donate to,” Emily said.
“So all we can do right now is get people talking and spreading the word.”
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