Published: July 22, 2011
Updated: July 22, 2011
First grade is a bittersweet transition for kids and their parents; it’s the beginning of a new era of childhood.
When Stacy and Jay Edgecomb watched their excited twin daughters scamper off to the first day of first grade, they knew the year would be significant. Little did they know they were about to embark on a voyage that would make them see the world differently.
The journey started when a teacher noticed that the twins were having difficulty seeing the chalkboard, and the school nurse verified a vision problem, initially identified as myopia (near-sightedness). A quick trip to their local ophthalmologist revealed seriously elevated eye pressure, and he realized the problem was beyond his expertise.
Within days, the family packed up and drove 400 miles from their home in Fort Fairfield, Maine (population 3,400), to Boston to see a world-class expert -- the first leg in a many-thousand-mile, four-year journey that eventually led them to the Duke Eye Center.
In Boston, the Edgecombs discovered that Sara and Sadie have a rare form of childhood glaucoma called spherophakia, a congenital abnormality in the shape of the lens which creates intermittent blockage of normal drainage and causes dangerously elevated eye pressure.
“There is a one in one million chance that both twins could have this condition, so at first we were in denial -- we just couldn’t believe it,” says Jay. “Nobody on either side of our families has anything like this.”
The experts in Boston said the only option was to remove the twins’ lenses and fit them with extremely thick “Coke-bottle” glasses.
“Our girls are so athletic, so young! We knew we had to exhaust every possibility before going this route. We started with laser iridotomies [creating a tiny opening in the outer rim of the iris] with hopes of decreasing the chance of the drainage angle closing, and this seemed to work for a while,” Jay explains.
Continuing their quest to quickly find more acceptable options, since elevated intraocular pressure can cause permanent damage to the optic nerve, the Edgecombs made several calls to doctors in New York City and Philadelphia for second and third opinions; each time they were referred back to Boston, and all the specialists said implanting new lenses wasn’t an option.
Meanwhile, their local ophthalmologist continued contacting specialists to see if the girls could have intraocular lens implantation at the time of their cataract removal to avoid having to wear glasses or contact lenses.
In the winter of 2010, the Edgecombs found Duke Eye Center’s pediatric ophthalmologist and glaucoma specialist Sharon Freedman, MD, professor of ophthalmology and pediatrics at the Duke Eye Center.
She offered to examine the twins immediately to determine the feasibility of lens removal with intraocular lens implants, in hopes of making more room in the anterior chamber (the space between the iris and the cornea) and thereby possibly improving their glaucoma.
They dropped everything, packed up their suitcases, and flew 1,250 miles to Durham to make the first of six trips to Duke Eye Center.
“We felt so welcomed and comfortable at Duke, and over time, we’ve come to view the staff as members of our extended family,” says Stacy, a branch manager at a local credit union.
“Dr. Freedman and the whole staff communicate so well and involve us in every aspect of the decision-making process. And when we’re back home, it’s really comforting to know that Dr. Freedman is just a call or text away.”
“I am passionate about my work and I become very close to my patients and their families. We’re dealing with very serious conditions, so we commit to each other to work together; I make myself available. Access and communication are critical,” says Freedman.
She has been known to bring fresh fruit, home-baked cookies, and goody baskets to the Edgecombs during their weeklong stays. “I just know how I’d feel if I were on the road with my children, living in a hotel room and trying to get them treated. It’s the least I can do.”
Unfortunately, this particular procedure did not help Sara and Sadie with their glaucoma because there was too much permanent damage to the drainage pathways in both eyes of both girls, according to Freedman. But over the course of a year, they had additional surgeries and multiple treatments -- most recently the insertion of a drainage implant.
They have had other procedures to further reduce eye pressure, including endoscopic laser treatment to some of the ciliary body processes in one eye each, to reduce the amount of fluid the eye makes.
Much like diabetics who need to track their blood sugar levels throughout the day, Sadie and Sara needed to keep close tabs on their eye pressure.
Tonometers, which can measure eye pressure in the home setting, would be needed to avoid frequent trips to the ophthalmologist’s office or a stay in the hospital to get multiple eye pressure checks.
Fortunately, when the Edgecombs found Freedman, she was studying a newly approved portable tonometer from Icare Finland Oy, a medical technology company that specializes in intraocular pressure measurement devices.Her hope was that the tonometer could allow parents to safely monitor the eye pressure of their children with glaucoma -- at home and outside office hours.
Freedman and her fellow, Nandini Gandhi, MD, were using the Icare tonometer in a study approved by Duke’s Institutional Review Board, and they enrolled the Edgecomb twins. On the first visit the Edgecombs made to Duke Eye Center, Jay texted Freedman early in the morning to let her know that Sadie’s eye pressure had topped 50 mm Hg (normal is usually under 22 mm Hg).
The multiple eye pressure checks at home revealed the fluctuation in Sadie’s and Sara’s eye pressure which was being missed with routine office visits. It confirmed that their highest pressures, in the 60s and 70s, were occurring in the early mornings. This seemed to explain why, for years, the twins sometimes woke up with headaches, nausea, and vomiting -- all likely effects of transient high eye pressure.
Jay and Stacy suddenly understood that all the times the girls were unexpectedly ill in the mornings probably weren’t due to food allergies, the flu, or anything other than symptoms of their glaucoma. “The alarming thing about this is that they never once complained about their eyes or their vision,” says Stacy.
Working with Freedman, the Edgecombs recently proceeded to petition their insurance company to purchase their own Icare tonometer at home, which they did after almost a year. The twins are pioneers; they are among the first in the United States to use this device in a home setting.
The Edgecombs make the most of their trips to Duke Eye Center. The drives are long, so they break up the trip with educational and discovery-oriented stops along the way, including Washington, DC, and the Shenandoah Valley.
Once in Durham, the family enjoys trips to Duke University women’s basketball games. Both girls are avid basketball players, and through connections at Duke Eye Center, they got a behind-the-scenes tour of Duke’s Cameron Indoor Stadium with ACC Coach of the Year and Duke women’s basketball head coach, Joanne P. McCallie, who coincidentally spent her early coaching career at the University of Maine at Orono, not far from the Edgecombs’ home.
The outcomes of Sara’s and Sadie’s treatments are good, considering how rare and serious their condition is. Sara recently had a procedure to further reduce her eye pressure in the right eye, which had a standard drainage implant but continued to run high pressure. This exact procedure for pressure was conducted on Sadie last fall, and Freedman anticipates the frequency of the Edgecombs’ visits will decrease moving forward.
“[Jay and Stacy] will continue monitoring the girls’ pressures, and their wonderful local ophthalmologist will monitor their recovery and watch their drainage implants, lens implants, and retinas -- and if all goes well, we’ll just see them once a year,” she says.
At their most recent visit, exactly one year from their first trip to Duke Eye Center, Sara and Sadie were recovering from their eye surgery and preparing to go to the Virginia Tech vs. Duke women’s basketball game.
With the telltale remnants of surgical tape still on their cheerful faces, the fifth-grade twins recounted the fun they had at their recent eleventh birthday party, where they played indoor hockey and hide-and-go-seek with six friends. They eagerly anticipate skiing and more basketball, and their only regret is that the eye-related trips have botched their perfect school attendance record.
How has their condition impacted their daily life?
“The main impact is that the twins have to wear sports glasses when playing basketball, soccer, or participating in other physical activities. We found great-looking sports glasses, so they aren’t embarrassed to wear them,” says Stacy.
Their school has been exceptionally accommodating, and their friends are very helpful. By looking at Sara and Sadie, you’d never know they have an incredibly rare disease.
When asked if traveling so far was a burden, Jay says, “The distance doesn’t matter -- it’s worth our peace of mind to come to Duke and have a doctor we can trust and who listens to us. There’s more here than medicine."
"Duke is a leader in technology and research, and the team of specialists is willing and able to look at new treatments. The fellows are amazing, the staff is unbelievable, and the facilities and equipment are world-class. We feel so lucky to have found Duke Eye Center.”