Utah Boy with Rare Disorder Gets Support

Описание: (KUTV) New hope for a young boy suffering from an extremely rare disease and his family in American Fork.

Five-year-old Benjamin Buchanan is only one of 1,000 people in the world diagnoses with Phelan-McDermid Syndrome affecting development and motor function.

But now Ben and his family are getting support from people from all over the world, and they say it is making all the difference.

"We didn't really know what he had," Chardell Buchanan said of her son's condition, "We did some testing and saw some doctors and then got the diagnosis when he was about 2 1/2."

Chardell told 2News reporter Amy Nay Sunday her son has a deletion of his 22nd chromosome, causing the disorder that falls in the autism spectrum.

"There are about 1,000 cases of Phelam-McDermid in the world," father Marc Buchanan told 2News, "There are 100 with ring 22 (what Ben has)."

Doctors and geneticists who made the diagnosis believe he is the only case in Utah.

Marc says they find themselves explaining it to be when they're out in public, but he says instead of being a burden, he sees this as an opportunity, "We get to tell people about Benjamin and why Ben is the way he is."

He does admit at times they feel quite alone. Why traveling to a special conference this summer in Florida has given them a whole new outlook.

"We really connect with these people," Chardell said, "You walk in and you can breathe almost, because everyone there has a child who's in our same situation."

Chardell says in this environment, at last her son seemed normal, "It was wonderful, just wonderful."

"It was fantastic to see families with the exact same circumstances. That they could understand, and to see the kids... when they get excited... uh, they make sounds and flap their arms and to see a row of kids doing that, it was like... this is where we belong," Marc said as his son Ben sat on his lap and started to flap his arms and make noises, "Like that."

The Buchanans found a new extended family at the conference and a sense of belonging they hadn't felt before, but they also picked up practical tools like a new necklace Ben uses to chew when anxious and numerous times throughout the day. It's a resource the Buchanans say has changed their lives drastically, "He's not putting rocks in his mouth or eating his clothes anymore! It helps him calm down - to fulfill that need and we didn't know how to do that before we went."

They also learned how to better detect Ben's seizures, "He's been having focal seizures and we didn't know."

Their trip was made possible through generous grants and scholarships thanks to a local organization called Angel's Hands and the Phelan-McDermid Syndrome Foundation, and the Buchanans say they are so grateful for their support. They say they hope to be able to save and plan to attend the next conference in two years.

While their son struggles with walking and can not verbalize, has health struggles and creates unique challenges, the Buchanans say he still tries to communicate in his way, and his mom Chardell wanted others to know, "How lucky we are that he's in our family. He makes our days brighter. I think that's what's important. Not the things he can't do, but all the things he can do and the happiness he brings."

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For more information:
Angel's Hands
Phelan-McDermid Syndrome Foundation
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Reported by Amy Nay
Follow Amy on Twitter: @AmyNay2News

(Copyright 2014 Sinclair Broadcasting Group.)

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