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Treating Rubinstein Taybi Syndrome - Valley News Live - KVLY/KXJB - Fargo/Grand Forks

Rubinstein Taybi Syndrome

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Treating rare diseases can be difficult, especially when some doctors don't know about them. That can be the case with a condition called Rubinstein Taybi Syndrome.

Paul Myklebust of Dilworth says, "Kind of a joy to have around

Parents Paul and Jamie say their son Tylan is the happiest and most social toddler they know.

Paul says, "We hope with the help of speech therapy that we can hear some words out of him."

When Tylan was born, doctors noticed he had broadened big toes and a cloudy cornea, which are signs of a rare condition called Rubinstein Taybi Syndrome.

"Every parent has hopes for their child. We've just changed ours," says Jamie.

Here's how Rubinstein Taybi happens. Each person has 23 pairs of chromosomes. On Tylan's 16th chromosome the tip is missing, which affects him mentally and physically.

Tylan's Physical Therapist, Lauren Emmel at Sanford Health says, "We kind of call it fundamental play. We work on strengthening activities for his tummy, his arms and legs and teach him how to do those motor skills."

Tylan goes to speech and physical therapy every week to help get him up to pace with other kids his age. And with the added help of his parents practicing with him at home, doctors say he's made phenomenal improvements.

Jamie says, "He's like 1% on most growth charts for a typical developing child, but he's a really big RTS child."

While they are unsure if Tylan will ever talk, they know he'll have the best future possible, with the best care possible.

Paul says, "He makes my day better. He's got such an awesome smile and he just enjoys life."

Loving life, no matter what stands in his way.

Rubinstein Taybi Syndrome affects 1 in every 125,000 people. The disease can sometimes go unnoticed. Tylan's parents say they feel lucky that doctors were able to diagnose him at birth.

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