HOUMA, La. (AP) - In the first year of Dustin Cressione’s life, his brain didn’t grow properly.
He didn’t sit up until he was 12 months and didn’t start walking until he was almost three.
The Houma native and his mother, Kayla Brien, basically lived in the doctor’s office throughout the early part of his life.
“When he was seven-months-old, he was in the hospital for a week and was basically a guinea pig,” Brien told the Courier and Daily Comet. “They started running tests to try to figure what was going on because he wasn’t thriving.”
At first, his doctors thought it was cerebral palsy. Then, they thought it was a mitochondrial disorder.
It wasn’t until the summer of 2014, when Cressione was 31-years-old, that they diagnosed him with Cohen syndrome __ a gene mutation in chromosome 8 with varying characteristics including short stature, microcephaly (abnormal smallness of the head), developmental disability, delayed motor skills and deteriorating vision.
“When I first found out he had Cohen Syndrome, I cried because (Dustin and other people with Cohen syndrome) all look alike,” Brien said. “I was like oh my God, Dustin has twins out there.”
Brien said she had been asking God to put the pieces to the puzzle together and never thought 32 years later, she’d get the answer.
There are less than 1,000 cases of Cohen syndrome in the world.
The recessive genetic disorder was present in both of Cressione’s parents, although neither of them knows who they carried it from.
It is most common in Amish, Jewish and Finnish populations, none of which Brien can claim ancestry.
Brien personally knows of one area family with a child who has Cohen syndrome. They are now living in Katy, Texas, however.
The past three decades have been rough, Brien admitted. Now that her son has finally been diagnosed, she joined a Cohen syndrome support group. She described the community as a lifeline.
“I’d like to bring more awareness to Cohen syndrome. It’s a rare syndrome and it’s been 32 years since tons of testing, surgeries and research has gotten us to this point and I’d like to bring more awareness in case there are others out there looking for a diagnosis for their child displaying the same symptoms,” Brien said.
Cressione’s dad died when he was six, leaving Brien to raise her son on her own.
She went on to have two more sons who had a 25 percent chance of having Cohen syndrome but came out healthy.
Despite her eldest son’s mounting health problems, Brien had no problems expanding her family. At the time, Cressione hadn’t even been diagnosed yet.
“I didn’t know he had Cohen syndrome when I got pregnant with my other children,” Brien said. “I don’t think it would’ve bothered me or stopped me from having other children because God is the author of life and doctors aren’t.”
Cressione loves playing with animals, going to the park and going to church. He also loves to give hugs, especially to pretty ladies, his mom admitted.
He doesn’t really have strong interaction with people and gets overstimulated among large crowds of people.
He enjoys watching Power Rangers or Teenage Mutant Ninja Turtles on his iPad, although he is legally blind with only 20 degrees of vision left.
But he’s not alone on his journey as his mom remains by his side.
“I never thought I’d see the day before I or he died that we would have an answer,” Brien said. “My goal now is to make sure there’s more awareness of this syndrome.”
Information from: The Courier, https://www.houmatoday.com
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