How a Son’s PURA Syndrome Brought His Family Closer

According to The Newport Daily News, for Danielle and Kyle Ray, it was an all-too-common love story. They were school-aged sweethearts who married in their early 20s, shortly after having their first child, Chloe. A few years later, they decided to have another child. The pregnancy went smoothly, and after an emergency C-section in 2008, they were holding their first son, Rylee, in their hands.

Little did they know, their son would eventually be diagnosed with PURA syndrome.

Rylee seemed completely fine at first. In fact, the only thing the doctors and nurses could tell was that he had a difficult time eating. They called him a “floppy” baby, and because of this, he was taken to a woman and infants hospital, where he stayed for ten days. After his stay in the hospital, he seemed strong and ready to take on life.

And indeed he has! Rylee, now 9, loves to laugh, smile, and has a dynamic personality like other young children his age. He also has PURA syndrome, which doctors were unable to diagnose for the first several years of his life.

PURA syndrome is a recently discovered condition that is very rare.

It was only recently described in medical literature starting in 2014. The syndrome is a neurodevelopmental disorder that causes mild to more serious developmental delay, learning disability, seizures and seizure-like movements (Read more here). This is caused by a mutated Number 5 chromosome.

Because of his condition, Rylee uses a wheelchair to get around. He cannot talk and needs help performing other basic functions. His family has made a secret communication tool, though. Rylee and his family use finger points and sign language to speak to one another.

Rylee is also learning an exciting new way to communicate through a high-tech object called a Tobi Dynavox. This allows him to look at an electrical screen and pick images that show what is on his mind. Rylee’s mother is blown away by the new discovery. She says being able to understand her son is the most amazing thing.

Technology for the win! Source:

A family affair

Rylee’s mom and dad put him first in their lives and completely support him. His mom stays at home to take care of him. His dad works outside the house, but he makes sure his coworkers and bosses know that his son comes first. Always.

His parents are excited that he has been making progress in both communication and walking. His mom boasts how Rylee recently took 25 steps by himself, which was a monumental day for his physical therapy.

Another important factor to the Ray’s overall family health is the online community of people who have Rylee’s condition. The Ray family has found the online community to be a great support to them. They enjoy having people to talk to who understand their situation.

The Ray family was raising money to take a trip to Philadelphia to attend the second annual PURA Syndrome Foundation conference in late June. They were excited about meeting others with Rylee’s condition.

Rylee’s mother believes that although their family supports Rylee, he also inspires and strengthens them. She explains how Rylee teaches them all about what is important in life. She is proud of him every single day.

Read more about Rylee and his family here

Find out more about PURA Syndrome from our partner here.

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