Boy battles odds coping with genetic syndrome

SANDUSKY When Maggie Rohrbacher's seventh child was born, she and her husband weren't worried about baby Philip's left eye.
Sandusky Register Staff
May 24, 2010



When Maggie Rohrbacher's seventh child was born, she and her husband weren't worried about baby Philip's left eye.

The couple thought the eye was sore and would heal in a few days.

After all, Maggie and her husband, Brian Rohrbacher, had brought six other healthy, happy and normal children into the world.

But in the few days that followed, the Rohrbachers learned happy, healthy and normal would be measured by a different standard for baby Philip.

Philip has a Proteus Syndrome, sometimes called Elephant Man Syndrome.

The genetic mutation is so rare doctors only know of about 120 cases worldwide, according to the Proteus Syndrome Foundation.

"We found out when he was 2 weeks old that he was diagnosed with it, but a lot of the stuff showed up when he was born," Maggie Rohrbacher said. "All they said was the words, nobody told us what it was."

Proteus Syndrome involves the atypical growth of skin, bones and head. It was first identified in 1979, but later named by a German pediatrician, Hans-Rudolf Wiedemann.

The syndrome gets its name from the Greek god Proteus, who according to legend could change his shape.

Because of the syndrome's rarity, it is difficult for insurance companies to classify the condition and for doctors to give the Rohrbachers a prognosis for Philip, now 4 years old.

The Rohrbachers were told he would never walk or talk, but Philip now does both.

The company Brian Rohrbacher works for recently went comparison shopping for new health insurance.

They tried to find a classification for Philip and couldn't ,so they wanted to pigeonhole him into a category, taking away all the specialists and assistance, Rohrbacher said.

It's taken a feeding tube for two years early in his life, a foot surgery to remove an overgrowth and drainage tubes in Philips ears, but Philip is running around squealing in glee and answering yes and no questions.

"I've never seen anyone move as fast as he moves ... he's always into something," Maggie Rohrbacher said.

"If you work with him every once in a while he picks up a new word," Brian Sr. said.

His vocabulary is far from verbose, but he knows how to say his big brother's favorite sport -- football.

Philip goes to practice with his oldest brother Brian, 16, who plays for St. Mary.

"Watch out for the little guy," a coach yells across the practice field to middle school summer camp attendees as Brian lets his brother watch a drill from the sidelines.

Before Philip could walk, Brian Jr. carried his little brother everywhere.

The bond the brothers share is obvious.

Brian Jr. said he doesn't really think about his brother being different -- to him it's the same role he has with his other younger siblings.

"I teach him things, what to do," he said.

Philip is also a frequent visitor at his mom's work at Parkvue Health Care Center.

He knows every staff member and resident who has candy, Maggie Rohrbacher said.

"I don't know -- it's amazing how someone who can't say anything can know, make a difference," she said of Philips interaction with residents. "I think Philip is cool...he reminds you of what we take foregranted."

Philip doesn't complain, she said. Sometimes you can tell he's in pain, but he just keeps going.

Maggie Rohrbacher said she wants people to know about Philip's syndrome to raise awareness about rare conditions like her sons so maybe Philip and others have to endure a few less stares.

"I think before we had them I was the same way," she admitted. "I could never dream..."

"Sometimes I wish he had something that was more known so people would know how to treat him, but then he wouldn't be Philip," she said.