How to Find Joy in Daily Life with PURA Syndrome

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Paige Hildring is nine years old. She’s one of 108 people in the entire world with PURA Syndrome.

PURA Syndrome is a neurodevelopmental disorder and those who suffer from it are often nonverbal, have little muscle mass, have difficulty sleeping, and live life in a semi-vegetative state.

Because it’s so rare, it took years for Paige to be diagnosed. She underwent 1,700 tests to try to figure out what was wrong. Doctors were dumbfounded as results came up again and again as normal.

Finally, when Paige was eight years old, they found the answer. PURA was found in her fifth chromosome.

But while the diagnosis provided answers, it didn’t have much effect on her day-to-day life. Although the family now knew what Paige had, the medical community didn’t have a solution for them. Research is still being done to try to find a treatment for PURA. For now, the family just has to continue life as usual.

Paige’s mom says that because the future is so uncertain, they’re focusing on the moments of joy they experience every day with their daughter.

She laughs when others laugh, and cries when they cry. It’s evident she’s empathetic and cares for those around her. Her mom says Paige’s smile means the world because, despite her condition, it’s clear she’s enjoying life. She continues to go to school and learn alongside her peers. Her parents have put in every effort to give her a normal life.

Paige’s family hopes to attend the 2nd Annual PURA Syndrome Conference in Philadelphia this June, hosted by the PURA Syndrome Foundation. Here they’ll be able to connect with others affected by this disease.

And when things start to feel bleak, a glance at Paige’s smile reminds them that despite the adversities, there are joys in the world.

It’s those moments with their daughter that keep them fighting.

Read more about Paige’s story here!


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