May 21, 2008
Robert Norris
The Daily Times Staff
Originally published at thedailytimes.com 

The surroundings said science — naturally enough since the event was held in a medical laboratory.

But the day was all about people, and about one special person in particular.

The gathering in downtown Maryville on Monday marked a step in a grass-roots movement to raise awareness of a rare genetic syndrome and to honor the scientist who identified it.

The goal is get the condition recognized on Health Awareness lists to alert doctors and parents of symptoms. Along with Tennessee, the states of Georgia, Alabama, Washington and South Carolina have approved proclamations recognizing the disorder.

Molecular Pathology Laboratory Network Inc. opened its offices for state Rep. Doug Overbey to present a resolution designating May 19 as Phelan-McDermid Syndrome Day and July 21-27 as Syndrome Week in Tennessee.

“One of the great things that has been accomplished right here in our community that may not be so widely known amongst the wider public is the work of this lab and the work of Dr. Katy Phelan,” Overbey said.

Phelan, who is currently the director of MPLN’s cytogenetics lab, discovered the syndrome in 1988. She accepted the parchment-like document to warm applause.

There was, however, no doubt about who stole the moment. The shining star was 8-year-old Stephanie Wermuth, her dark hair in braids, her equally dark eyes piercing when something caught her attention. Sometimes alert and silent, seated erect in her wheelchair. At other times, eyes unfocused, she slumped over and moaned and bellowed.

This 66-pound girl, the smallest person in the lab, the only one who could not communicate with words, dominated the room.

Stephanie, a third-grader at Mary Blount Elementary School, has Phelan-McDermid syndrome — a genetic condition caused by the absence of genes at the tip of the long-arm of chromosome 22. The syndrome is linked to autism. It also is rare.

Stephanie’s father and mother, Stephen and Kathleen Wermuth, are the only parents in Tennessee known to have a child diagnosed with the Phelan-McDermid syndrome. Around 400 people have been diagnosed around the world, the oldest being 60.

No symptoms were apparent at Stephanie’s birth.

“When we first noticed something wasn’t quite right, she was about 8-9 months old,” Kathleen Wermuth said.

“We went to the pediatrician and said something’s not right. She’s not sitting. We knew families who had children that were 5-6 months old and those babies were sitting, grabbing things, taking a spoon and putting it to their mouth. She’s not making these milestones.”

Neurological tests were performed but provided no answer. Genetic testing came next. It wasn’t until Stephanie was 18 months old that her condition was diagnosed.

“It was nine months of waiting. … It was nerve-racking not knowing what it was. Some people said maybe it doesn’t matter as long as you treat the symptoms,” Kathleen Wermuth said. “We think it’s better to know, that you have a solid diagnosis.”

Twenty questions

With the diagnosis confirmed, at least there was a way to plan for the future — such as finding a handicapped accessible place to live in Boston, where the Wermuths lived at the time.

And there was the constant challenge of communicating with a child who cannot speak. When something seems wrong with Stephanie, the parents start with a process they call “20 questions.” It’s a deductive process.

“She doesn’t cry much, so if she does cry we know something’s really, really bothering her. We usually start off with the mouth, check to see if it’s teeth or something. The next thing, if she’s pulling her legs up, that might be something with her stomach,” Kathleen said.

“One time, we were still living in Boston, she kept crying for about a week, off and on. We could not pinpoint it. Finally one day we went to put a shoe on and she just screamed, and I called the doctor.”

As it turned out, Stephanie had a hairline fracture of the left tibia. It had been caused during her physical therapy when a therapist attempted to take her out of her wheelchair, forgetting that Stephanie’s foot was strapped in.

“She’d dealt with a broken leg for a week, and we didn’t know. We felt so horrible. The doctor said, you do the best you can.

“Of course, at the hospital, they ended up looking at me: ‘How did she get this?’ The first thing is they wonder is child abuse.”

A new beginning

Finances and faith brought them to East Tennessee. A handicap-adapted apartment in Boston cost $1,600 a month.

“We just took it as a sign from God that it was time to move out of state,” Stephen Wermuth said.

Another sign came while they were in Gatlinburg at a meeting of the parental support organization called the “22q13 Deletion Support Group,” a reference to the deletion on chromosome 22.

“The morning we were leaving, Kathleen was crying her eyes out because we didn’t want to go back to Massachusetts,” Stephen recalled.

The did go back, but returned to find a new home.

When they came to Blount County, they knew one person here, Dr. Katy Phelan. Stephen, who was a school bus driver in Massachusetts, didn’t have job lined up. He called it pure luck that their neighbor across the street drove a school bus.

“I asked her, ‘You know anybody needs a bus driver?’ She said, ‘My boss is dying for a bus driver.”

Now he drives a Blount County school bus.

They needed help making their home handicapped compatible. They read an article in the newspaper about a group formed to help with residences for handicapped people. It turned out the group couldn’t help.

A day or two later they received a call from a member of New Hope Baptist Church.

“We hear you need a ramp. Well, we’re going to come out and build you one.”

Now the Wermuths belong to New Hope.

“It’s been a great blessing. We’ve had great support here. The members of New Hope Baptist Church have been great support,” Kathleen said. “We’re just so thankful to be here.”

And ever mindful of the obstacles they share with the caretakers of every child.

“A lot of people look at us as being kind of saintly. We’re not saints, we’re just like every other parent,” Kathleen said. “Our challenges are a little different.”

Some symptoms of Phelan-McDermid syndrome are subtle

There is a wide range of symptoms associated with the Phelan-McDermid syndrome, also known as the 22q13 Deletion syndrome.

Most individuals exhibit moderate to severe developmental delays, absent or severely delayed speech, normal to accelerated growth and atypical features.

Very low muscle tone is a common trait, and many individuals roll over, sit, crawl and walk at a later age than usual.

“Facial features such as long head shape, puffiness around the eyes, long eyelashes, droopy eyelids, puffy cheeks and large ears are fairly subtle and may not be recognized by a physician,” said Dr. Katy Phelan, director of the cytogenetics laboratory at Molecular Pathology Network Inc. based in Maryville.

Phelan identified the syndrome while performing chromosome analysis.

“That is why it is so important to educate the medical community about this rare disorder so that families can obtain the care and help they need as early as possible.”

Other physical features include large, fleshy hands, webbing of the second and third toes, underdeveloped toenails that may peel off effortlessly, sacral dimple, and the inability to perspire, causing overheating readily.

Behavior characteristics include mouthing or chewing nonfood items, increased tolerance to pain and autistic-like affect.

For more information about the Phelan-McDermid syndrome or support group, visit http://www.22q13.org.

This entry was posted on Wednesday, May 21st, 2008 at 9:54 am and is filed under In The News.
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