- Associated Press - Sunday, January 4, 2015

MASON CITY, Iowa (AP) - Running around and playing, Keegan James, of Nora Springs, looks like your typical 6-year-old.

However, what most people don’t know is that he has a rare genetic condition called hypohidrotic ectodermal dysplasia (HED), which causes a reduced ability to sweat, missing teeth and fine sparse hair. It impacts approximately 7 in 10,000 births.

“He’s a rock star,” said his mother, Lindsey James.

Keegan was diagnosed with the condition when he was 18 months old and after long health battles starting as an infant, the Mason City Globe Gazette (http://bit.ly/13KCVqB ) reported.

Just before Keegan turned 6 months old he had tubes placed in his ears for repeated ear infections. He also had pneumonia once during those first six months.

Shortly after the surgery for tubes, Keegan began choking during his feedings. Swallow studies didn’t show much, so James took Keegan to University of Iowa Hospitals for a second opinion.

There they discovered Keegan had an acute laryngeal indentation in his esophagus. Several procedures later, however, Keegan was still having difficulties. His doctor eventually pushed for genetic testing, but there was a waiting list to see a genetics specialist in Iowa City.

After six months of waiting, James took Keegan to the Mayo Clinic in Rochester, Minnesota, where they began seeing a variety of doctors including an ear, nose and throat doctor, a genetic specialist and a gastroenterologist.

James said one of the tests was for cystic fibrosis, which involves a sweat test. However, Keegan was unable to sweat due to the still-not-diagnosed HED.

One night James got on the Internet and searched some of Keegan’s symptoms including a lack of teeth and absence of sweat. She came upon a website for the National Foundation for Ectodermal Dysplasias (NFED).

“The photos of all the kids looked like they could be his brothers or sisters,” James said.

She brought it up at their next doctor appointment and the doctor cautioned her about using the Internet for self-diagnosis. However, after listing the symptoms, the doctor realized they should test for it.

“That was the missing puzzle piece,” James said. “It wasn’t as scary anymore and was completely manageable.”

Management has meant Keegan getting an upper denture when he turned three and working with Dr. Clark Stanford, formerly of the University of Iowa College of Dentistry, for his dental needs. Stanford has been treating patients with HED for more than 25 years.

Keegan currently has two teeth with one more on the way. X-rays show that he won’t grow any more, James said.

While Keegan only has an upper denture right now, he will soon have a bottom one as well, James said. He’ll need to be fitted for dentures as often as needed and eventually teeth implants might be an option when he stops growing.

James said they’ll continue to see Stanford even though he recently began working for the University of Illinois College of Dentistry in Chicago.

“We tried to find someone locally but no one was comfortable taking on his case,” said James, noting that she was thankful for the honesty.

Other management includes dealing with Keegan’s inability to sweat.

“It’s challenging at times, but he’s always been very good at communicating he’s hot, even when he was really little,” James said.

“He knows his limits,” she added.

The family has bought various cooling products such as cooling cloths, and has a safety plan with the Central Springs School District.

“The school has been phenomenal,” James said.

Despite not sweating, Keegan still runs around the playground like any other 6 year old and will be able to give sports a try.

“Really, it’s up to him,” James said about sports.

HED has also caused some skin issues for Keegan, especially in the wintertime, but it is managed with different lotions.

James said she has received tremendous support throughout everything through NFED.

“It’s helped that the foundation was already there,” she said.

Now James volunteers as a family liaison for the foundation and blogs about Keegan’s dental adventures.

“It’s nice to give back to it,” she said.

___

Information from: Globe Gazette, http://www.globegazette.com/

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