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One family's quest to find answers for the cure to rare diseases

One family's quest to find answers for the cure to rare diseases

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LINWOOD — A stack of folders and binders, busting at the seams with documents and papers, sits nearly 2 feet high on the Freed family’s kitchen counter.

Deb Freed pulls out several papers with her 19-year-old daughter Lindsey’s name on them. The letterheads are from Boston Children’s Hospital, Children’s Hospital of Philadelphia, Cincinnati Children’s Hospital, Miami Children’s Hospital, Johns Hopkins Medicine — the list goes on.

Freed shuffles through them, pointing to words and phrases such as “microdeletional syndrome,” “disease management” and “scoliosis.” She knows what all these terms mean now, but it took years to get that understanding.

An estimated 25 million Americans live with rare diseases, those that affect fewer than 200,000 people. Some leave families like the Freeds continuously searching for answers on treatment and cures.

Lindsey has several rare diseases that affect her eating abilities and digestion, bone growth and energy. She has a specific microdeletional syndrome, identified in just a handful of people in the world, and a rare autoimmune disease called eosinophilic esophagitis.

“We just call it EE because nobody knows how to pronounce it,” Lindsey said with a shrug. “I did a project for school about it once, and everybody was just like, ‘Huh?’”

The disease includes inflammation in the esophagus, making it difficult for Lindsey to swallow food and gain weight.

The Freeds have searched for answers for years, ever since Lindsey started showing symptoms as a child. After persistently seeking second, third, fourth and fifth opinions, they found medications that helped her move off a feeding tube.

She’s able to eat more now, particularly french fries and chips, her favorite snacks.

“Years ago, we would all sit down for dinner — me, my husband, my other two children — and fill our plates with food while Lindsey sat drinking liquid from a juice box that served as her meal,” Freed said. “It just broke my heart.”

Helping her parents in the kitchen as they make tacos for dinner, Lindsey stands a few inches taller than her mom.

But while she excels in height, she lacks body mass. Her sweatpants and soft T-shirt swallow her thin arms and legs.

Although they have found some treatments, they also have had setbacks. Lindsey had a hip replacement, many surgeries and even more bone fractures. Managing the diseases is not the same as a cure.

Lindsey and her mom just returned from a funded weeklong trip to Shriners Hospital-Canada in Montreal. Freed said a new medication, not used in the U.S., holds promise for Lindsey.

“I’ve never seen Lindsey leave a hospital before with the smile she had last week,” Freed said. “It’s exciting and a little overwhelming, but I can’t get my hopes up too high. We just never know.”

Back at home, Lindsey’s father, Robert, sister Carrie, 16, and brother Zachary, 11, keep up with work, school, after-school activities and basketball games. But Lindsey is never far from their thoughts.

“I’ll text my mom all the time and see how things are going whenever they have to travel or go to the hospital for testing and checkup,” Carrie said. “But if it’s a surgery or something big, our dad will take us out of school to be with her and visit at the hospital.”

Lindsey moved to full-time home schooling about two years ago. Teachers from Mainland Regional High School come to her house and tutor her.

Two days a week, Deb takes Lindsey to physical therapy at AC Best Docs in Linwood. The goal is to strengthen her muscles as much as possible and work on balance and flexibility in a pool.

On a recent visit, Lindsey, in a simple, colorful bathing suit, gingerly walked down steps into a small, rectangular pool in a heated room and got onto an underwater treadmill. She walked at a slow pace for 20 minutes.

“She’s so prone to bone fractures, so we have to exercise with nonweight-bearing forces, and that’s where the pool helps,” said Dr. Stephen Lusk, orthopedic therapist at AC Best Docs.

After therapy, Lindsey retires to her Willy Wonka-themed room, a gift from the Make-A-Wish Foundation. Exhausted, she naps and sometimes watches a movie. On less strenuous days, she plays keyboard, listens to music or paints.

While her daughter rests, Deb Freed catches up on things around the house, getting ready for Carrie and Zachary to come home from school and for Robert to come home from work.

More often than not, she’s on the computer looking up support groups, research, trial programs, pharmaceutical developments or thinking about the next fundraiser she can organize to raise money in the name of her daughter’s diseases.

Lindsey mentions making plans for a sleepover at a friend’s house or having her friends come over one afternoon soon. She’ll continue schoolwork, maybe make a new pottery design to add to the pieces that fill tables and hang on walls in the study.

She’ll continue to be homeschooled through Mainland for at least another year. Lindsey said she may take some online college courses after that.

For now, awareness and a cure are what she wants most.


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