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One family’s lonely struggle against their child’s rare disease

BY   February 29, 2016 at 4:33 PM EDT
Since Brynleigh's diagnosis, Lauren and Sean Shillinger have educated themselves about their two-year-old daughter's rare genetic disorder that has no cure. During her regularly scheduled two-year check-up, the Shillingers fielded questions from their pediatrician, Paul Feinberg, such as whether or not surgery could remove one of the tumors in her brain. Photo by Joshua Barajas

Since Brynleigh’s diagnosis, Lauren and Sean Shillinger have educated themselves about their daughter’s rare genetic disorder. During her regularly scheduled two-year check-up, the Shillingers fielded questions from their pediatrician, Paul Feinberg, such as whether or not surgery could remove one of the tumors in her brain. Photo by Joshua Barajas

To visit the Shillinger family’s rural Maryland home, you first pass red barns and white silos that dot green farm country and streets with names like English Muffin Road. It feels as if you’re driving through a child’s bedtime story.

Lauren and Sean Shillinger moved here in July 2014 with their eight-month-old daughter, Brynleigh. They couldn’t wait to watch their only child grow up walking to the nearby elementary school or taking annual family trips to Disney World.

But a month later, Lauren began to worry after she noticed something subtle and strange. Occasionally, Brynleigh’s eyes froze, and her arms stiffened out in front of her. White spots appeared on her skin. Friends, family and physicians insisted that everything was fine, that Brynleigh had always been healthy.

“I had a mommy-gut feeling. No, she’s not fine,” Shillinger said.

“I had a mommy-gut feeling. No, she’s not fine.”

Then, Lauren’s worry spiraled into her scouring the Internet for hours one weekend to figure out what was wrong. Days later, they again visited their pediatrician, who referred them to pediatric neurological experts at Children’s National Medical Center in Washington, D.C.

A day-long trip to the hospital stretched into a week of tests, scans and x-rays. Doctors found about a dozen of benign tumors in her brain and heart that triggered Brynleigh’s seizures. Tests revealed that a single chromosome spontaneously mutated, and the toddler’s body was missing a protein that suppressed tumors. Finally, Lauren said about two dozen doctors and nurses filed into Brynleigh’s room to deliver the diagnosis.

Their nine-month-old daughter had tuberous sclerosis complex. There was no cure. Lauren and Sean didn’t know how to spell the rare genetic disorder’s name, much less what that meant for their child’s future.

With that diagnosis, the Shillingers’ daughter joined an estimated 50,000 people nationwide who have tuberous sclerosis, or TS, according to the Tuberous Sclerosis Alliance, an advocacy group devoted to the disorder. It is one of 6,800 illnesses that the National Institutes for Health classifies as a rare disease, which when combined, affects the lives of one out of 10 Americans.

To better understand how their world changed, doctors told the Shillingers to watch a video, Lauren said.

“You are left on an island by yourself to figure it out.”

The video showed a little girl walking and talking and then flashed forward to show that same girl’s quality of life rapidly deteriorated, Lauren recalled. Lauren and Sean sat on Brynleigh’s bed, held each other and sobbed.

“You are left on an island by yourself to figure it out,” Lauren said.

Lauren Shillinger replaces a hairbow for her daughter, Brynleigh, 2, before their two-year check-up with their pediatrician. They plan to discuss Brynleigh's vaccine schedule, and how to administer them in a way that won't prompt fevers and possible seizures. Photo by Joshua Barajas

Lauren Shillinger replaces a hairbow for her daughter, Brynleigh, 2, before their two-year check-up with their pediatrician. They plan to discuss Brynleigh’s vaccine schedule, and how to administer them in a way that won’t prompt fevers and possible seizures. Photo by Joshua Barajas

Since her daughter’s diagnosis, Lauren quit her job in the healthcare system and manages Brynleigh’s care full-time.

Today, Brynleigh is a walking, talking and smiling two-year-old who can count to five, loves milk and wonton soup, playing on her parents’ phones and storytime, but her development lags about 20 percent behind her peers, Lauren said. And at one point, Brynleigh endured as many as eight seizures per day.

Lauren schedules appointments with doctors, coordinates her three speech and occupational therapy sessions each week, argues with insurance companies about medical coverage, researches pediatric experts in tuberous sclerosis and calls in prescriptions to control Brynleigh’s seizures. Sean works in healthcare information technology and his salary supports the household.

“The medical bills have been outrageous from this. We’re only in year two of her life. It’s very scary for us,” Lauren said.

Her tumors and medication leave Brynleigh’s immune system constantly on-guard. She seldom enjoys playdates or birthday parties and can’t go to crowded places like the mall or grocery store. Exposure to germs could lead to a fever, which could trigger more seizures.

Lauren will likely homeschool her.

At one point, they weren’t sure how their little girl’s life would look.

“Does anybody turn out okay? Go to school? Have a job?” Sean said he found himself asking.

When you or a loved one is diagnosed with a rare disorder, no one gives you a manual to figure out which experts to contact or what to do, Lauren said.

“Sure, doctors come in and say, ‘Here’s information about the illness. Here are your treatment options.’ Nobody can tell you, ‘These are the best places for your child.’”

Instead of traveling to Disney World, the Shillingers crisscross the country to find the best medical attention for their daughter — traveling to Houston, Detroit and Cincinnati.

Instead of traveling to Disney World, the Shillingers crisscross the country to find the best medical attention for their daughter — traveling to Houston, Detroit and Cincinnati.

At home during a regularly scheduled two-year check-up, the Shillingers serve as self-made experts on their daughter’s disorder, fielding questions from their pediatrician, Paul Feinberg, such as if surgery is an option for one of her noncancerous, yet still dangerous, brain tumors.

Research in tuberous sclerosis is rapidly improving, says Elizabeth Thiele, professor of neurology at Harvard Medical School and a national expert in the disorder who oversees pediatric epilepsy and a center devoted to TSC at Massachusetts General Hospital.

When families receive the diagnosis of tuberous sclerosis, Thiele said her staff tries to see them as soon as possible.

“It’s human nature to assume the worst. People read about this, and suddenly, the sky does fall,” she said.

But medication now exists that can actually stop tumor growth, if the individual maintains his or her dosage, Thiele said. That’s big.

“In the past seven years, it’s been incredible about how much has happened in TS,” Thiele said. “It really is possible to give a family more hope.”

After Brynleigh's diagnosis, physicians recommended that the Shillingers give their daughter a doctor's kit, complete with stethoscope, so that she would be less nervous during her frequent trips to hospitals and clinics. Photo by Joshua Barajas

After Brynleigh’s diagnosis, physicians recommended that the Shillingers give their daughter a doctor’s kit, complete with stethoscope, so that she would be less nervous during her frequent trips to hospitals and clinics. Photo by Joshua Barajas

That gives the Shillingers one more source of strength. Their other saving grace comes when they hear stories from families who walked a similarly uncertain path with tuberous sclerosis.

Often, the Shillingers felt isolated. Even when people told them their daughter looked healthy, it was irritating and Lauren was tempted to show them Brynleigh’s MRI scans.

“You have to learn about the illness,” she said. “You have to figure out how to explain it to every person you meet every day.”

“You have to learn about the illness. You have to figure out how to explain it to every person you meet every day.”

Six months passed before they found another family in Maryland whose child lived with the same diagnosis. The Shillingers contacted a TSC-advocacy group for support and sought out families on Facebook.

These stories were the closest thing they had to a crystal ball, and they were desperate to know what was in store for their only child.

“This is now our focus,” Lauren said.

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