[One of my good friends and former co-workers has this condition. ~KM]
Latrobe family looks to the futureBy Carla DeStefano
FOR THE TRIBUNE-REVIEW
Monday, March 12, 2007
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www.pittsburghlive.com/x/pittsburghtrib/news/health/s_497212.htmlMost new parents count fingers and toes shortly after delivery. Stacy and Adam Lemmon, of Latrobe, nervously searched their baby girl's eyes.
They were looking for signs of aniridia, a rare, genetic eye condition that usually affects both eyes.
Aniridia, meaning "without iris," occurs when the gene responsible for eye development doesn't work properly as the fetus grows.
The baby's irises -- the rings of color in the eye that narrow and widen to regulate the amount of light entering the organs -- are poorly developed or missing altogether.
Because Adam Lemmon has aniridia, there was a chance the couple's daughter, Adison, would have the condition as well.
But the Lemmons were also hopeful: Early in the pregnancy, doctors told the couple there is usually a sex link to the condition. If the baby was a girl, they said, she likely would be fine.
That misinformation made the diagnosis even harder to take.
"We knew immediately that she had it," said Stacy Lemmon, 33, a nurse for Excela Health Home Care and Hospice. "Her eyes were clamped shut, she had sensitivity to light and her pupils were dark."
The couple soon learned that any baby born to a parent with aniridia has a 50-50 chance of developing the condition. In fact, the Aniridia Network, a support group based in Memphis, reports that one in about 50,000 newborns has aniridia.
At 7 months Adison was examined under anesthesia, so a doctor could take a closer look at her eyes and assess the severity of her condition.
The news wasn't as good as the Lemmons had hoped. The doctor found corneal pannus, or cloudiness in the cornea, the transparent dome at the front of the eye. Adison is likely to lose her sight by early adulthood, he said.
Pediatric ophthalmologist Dr. Joseph C. Paviglianiti, who now treats the girl at his office in Murrysville, said the mere lack of an iris isn't to blame for visual impairments or blindness. Other problems occur when a patient has aniridia.
"Besides the iris, other structures of the eye may also be affected," Paviglianiti explained. There may be problems with the eye's lens, such as cataracts; abnormalities of the optic nerve and retina, a structure at the back of the eye; and cloudiness of the cornea, which along with the lens helps to focus light inside the eye.
"In approximately 50 percent of cases of aniridia, glaucoma (excessive eye pressure) may be present," he said. "Poor vision from birth is usually the rule and is permanent. Due to the poor vision, sensory nystagmus (abnormal eye movements) may be noted within a few months after birth. Strabismus (eye misalignment) may also develop due to the poor vision."
In about one third of aniridia cases, Paviglianiti added, an associated cancer of the kidney, called Wilms tumor, will be diagnosed.
Adison has an ultrasound every six months to check for the tumor. So far, nothing has been found.
Aniridia is rare and research is limited, but the Lemmons are grateful for the medical advances made so far.
Adam Lemmon, now 29, was diagnosed when he was 9 months old. His mother had taken him to the doctor over and over, suspecting ear infections were to blame for her baby's irritability. Finally a doctor noticed the abnormality in Adam's infant eyes and referred him to Dr. Albert Biglan, senior partner with Pediatric Ophthalmology & Strabismus, in Pittsburgh.
Biglan cared for Adam -- and for Adison -- until his recent retirement.
Adam Lemmon's doctors initially thought he would soon be blind, but he still has his sight. He has glaucoma but uses eyedrops to keep the eye pressure under control. A college graduate, he drives and runs several businesses, including Spotlight Music, which offers disc jockeys and specialty lighting, and Computer Troubleshooters, of Greensburg.
The Lemmons have high hopes for Adison, too, but they decided to start early to ensure a self-sufficient life for their daughter.
"When the doctor told us what we could expect with Adison's sight, I sat there and said, 'Either I cry, or I do something about this,'" Stacy Lemmon said.
She contacted the Western Pennsylvania School for Blind Children, in Oakland, and enrolled Adison in its early intervention and toddler programs.
At the school Stacy Lemmon began to understand the tools she would need to help her daughter.
"They were just wonderful there," she said. "And then once Adison transitioned out of the toddler program, I had to take over at home. I had to know how to do that."
After surgeries to correct muscle alignment, and to try to prevent future problems with glaucoma, Adison's vision is about 20/100. With glasses to shield her eyes from glare she can see well enough to play and enjoy picture books.
Paviglianiti remains hopeful that if she can avoid glaucoma, Adison's vision could remain about the same.
"It will be no better, but no worse," he said. "Time will tell."
In the meantime, the Lemmons are doing what they can to prepare Adison, now 3, for a possible world of darkness. She attends occupational therapy once a week to work on hand-eye skills, such as stacking and sorting. And she's learning the concepts behind Braille, although she won't be able to understand it completely unless she does lose her sight, her mother said.
Adison goes to preschool at Christ The Divine Teacher School, in Latrobe. At home she plays with her little brother, Nathan, 21 months, who does not have aniridia.
In addition to caring for her family, Stacy Lemmon spreads the word about aniridia through speaking engagements. It's her way of coping, she said, of not letting herself dwell on what might come.
Her daughter's diagnosis was difficult to deal with it at first, because she felt like she had to cram a lifetime of activities into a few short years.
"I felt like it was a race against the clock," Stacy Lemmon said. "You make this laundry list of things to do before she has the loss: We gotta go to the zoo. We gotta go to the museum. I wanted her to have all these visual memories so that she can remember what things look like.
"And then I realized that I can't do that. I need to let her be a child. We sort of pace ourselves, and she decides what she likes to do. So we go and do that."
In addition to preschool, Adison takes ballet classes. Her mom said it's good for both socializing and having fun, but it also helps with her balance and coordination.
In preschool Adison is learning the same things as her classmates, but she has help from Kathy Brittian, a teacher of the visually impaired and a certified orientation and mobility specialist with the Westmoreland Intermediate Unit, based in Greensburg.
"My job is basically to work with the family and answer any questions they have, and (to handle) any other accommodations she may need in the preschool setting," Brittian said. "We prepare them for school-age (activities)."
Brittian said the preschool teachers understand Adison's need to get close to objects so she can see. They're willing to draw the shades or seat Adison with her back to the windows, because her eyes are sensitive to light.
Brittian is working with Adison on depth perception. She isn't always aware of steps or other changes where she is walking, so Brittian is there to help.
"I am trying to make her become more aware of her surroundings," Brittian said. "I am making her aware that there are routes to places. In the long run, this will help in school when she's changing classes and give her independent mobility later."
Brittian also assists with basic school activities such as using scissors, copying shapes and reading. Many of Adison's learning materials are tactile, or hands-on, rather than visual.
Later in her school career she may need large-print textbooks, software that enlarges images on a computer screen, or magnifying devices to help her see the chalkboard.
For now, Brittian said, the little girl has no problem asking a teacher if she can move closer to see something, and she gets along well with her classmates.
Stacy Lemmon said she hopes her daugher will grow up to be a self-sufficient person who knows she can do anything she wants to do. Already she's seeing signs that Adison is aware of her condition.
"She's an intuitive kind of kid," Stacy Lemmon said. "I didn't realize that until the last couple of months. I said to her that she was beautiful, and she said, 'My eyes aren't beautiful.'
"But she has a tenacious personality, and I know she'll do really well. I am hopeful that she won't lose her sight. But if the visual deterioration begins to happen, and there is nothing we can do about it then, at least she will have been prepared.
"We know she won't drive, or do those sorts of things, but we hope her personality stays strong, and that she knows that anything that she wants, she can achieve."
