Young girl with severe genetic defect born into loving family

When Brielle Burr from Taylorsville, Utah, turned six months old, her parents organized a birthday party for her. They were aware that every day counted for their daughter, and every month she survived was a reason to celebrate.

At Brielle's birth, her parents Candace and Ryan had to come to terms with some shocking news: the young girl was born with Beare-Stevenson syndrome. The severe and extremely rare genetic defect resulted in the child's skull becoming deformed before she was born. This also affected the development of her brain. The disorder is so rare that there are only about 20 known cases worldwide — probably because most children born with this illness don't survive for too long.

There was also little hope for Brielle's parents; doctors said that their daughter probably wouldn't live longer than a year. Ultrasound examinations during the pregnancy had only shown unborn Brielle to have an unusually shaped skull — nothing that surgery after the birth couldn't have easily corrected. There were no indications that the unborn child was suffering from this little-known disorder.

However, Brielle's happy smile four years later shows that miracles can happen. Her strong will to live and the love from her family have helped her achieve something that nobody thought was possible.

"For a long time, I never allowed myself to think about the future," said Candace. She was simply too worried that her daughter could die at any minute. Over time, the mother of three's life has slowly become more normal.

To raise awareness about Brielle's illness, the family regularly posts photos of the young girl on the internet. "When we first started on this journey, not a lot was known about Beare-Stevenson," said Candace. That's why she feels it's very important to share information about living with the disease.

Brielle has undergone several operations on her skull to reduce the pressure on her brain. 

Brielle is dependent on oxygen every day and uses a feeding tube. For the first three-and-a-half years of her life, she couldn't say a word. But now she's recently learnt how to say "mama" and "dada."

"We feel that she understands quite well," said Candace. "It's her body that limits her." 

"She is full of personality and loves to make people laugh," said father Ryan. "Even without saying a word, she is one of the funniest people I know."

Brielle is also well looked after by her attentive older sister Kaya. Candace and Ryan make matching Hallowe'en costumes for their daughters so that they can celebrate together.

"Every day is a gift, but she's four now, and we never thought we'd be here. Who's to say we can't double that this year?" said Brielle's proud parents. 

Quite right. Hopefully, Brielle and her wonderful family will have many more happy years together. We wish them all the best!




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