Family of boy with rare genetic disease treats each day as a gift

Published: Monday, May 12 2014 6:18 p.m. MDT

Joe Brown, left Greyson Brown and Charlotte Brown. The parents talk about life with a child who has a very rare disease. No other person has been diagnosed with his specific mutation, in Orem, May 12, 2014.

Alan Neves, Deseret News

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OREM — Greyson Brown is no ordinary 5-year-old.

Doctors diagnosed him with a severe case of nemaline rod myopathy when he was 1.

Greyson suffers from a gene mutation that weakens all muscles in the body, particularly the respiratory system. Genetic testing later revealed a new mutation in a specific gene called the Actin 1. The mutation had never been reported before.

“It’s very rare,” said Dr. Ai Sakonju, a pediatric neurologist at Primary Children’s Hospital. “He’s the only one of his kind. That fact that he’s alive is a miracle.”

Greyson wasn’t expected to live past age 2.

Charlotte Brown said her pregnancy with Greyson was different from her other pregnancies.

“I didn’t feel much movement like I had felt with my other pregnancies,” Brown said, “so I thought there was something weird about it.”

She said doctors told her the baby looked fine in the ultrasounds and that she was carrying him differently. But when he was born, doctors knew right away something wasn't right, Brown said.

“He was floppy,” she said. “He was extremely so that the doctors knew right away that there was something wrong.”

Exactly what was wrong with him took time to figure out. The Browns didn’t get an actually diagnosis for a year. He was diagnosed with nemaline rod myopathy.

People with this often die from respiratory complications or failure, and even the common cold can be fatal, his mother said.

“Even at his best, he’s still weaker and has a harder time breathing than most people,” said Joe Brown, Greyson’s father.

Somehow he's made it through RSV, two bouts of pneumonia, even the swine flu.

“It was just one after another the first two years,” Charlotte Brown said. "He was in the hospital every couple weeks. He had to go back in for a little cold or something. We were just living day by day, minute by minute sometimes.”

“He was in the hospital more than he was at home the first year of his life,” Sakonju said.

Not knowing how rare Greyson's condition was and dealing with things one day at a time helped the Browns get through the first years. They also credit the boy's upbeat attitude.

"I feel like his attitude has propelled him forward,” Charlotte Brown said. “He's really taught us so much about having a good and positive attitude.”

Greyson gets around his Orem home with a scoot and a smile.

“He doesn’t walk yet,” his mother said. “We are hoping he will get there eventually.”

He does physical therapy at school and at home.

He is on a feeding tube, but is getting used to eating.

"As to whether they live a quality of life, that's up to the family," Sakonju said, "and that's where the true miracle is.”

Because Greyson's parents know each day is one more than they expected to get, they're treasuring these special moments. They say through Greyson they've learned a valuable lesson everyone can all learn from.

"(Be) grateful for what you have, I guess," Joe Brown said, to which Greyson responded, "Yeah!"

A fundraiser is being held to help defray some of the costs of the treatments. The Racin’ for Greyson is a 5K walk/run on Saturday, May 31, at Exchange Park, 900 N. 750 West, Provo. The race will begin at 9 a.m. For more information, go to namify.com/content/RacinForGreyson/Default.aspx.

As for Greyson's future, doctors can't say for sure. Over time the disease can cause muscles around the heart to weaken. But if you ask Greyson, he's got a different plan for his heart.

"We have no idea what his future looks like," Joe Brown said.

“A girl!” Greyson said.

"A girl? Maybe there will be a girl in his future,” the boy's father said with a chuckle.

Contributing: Viviane Vo-Duc

Email: akewish@deseretnews.com

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