Grandview Heights Schools teacher, classmates offer shared experience for Rare Disease Day

Both children diagnosed with vascular Ehlers-Danlos syndrome

Alan Froman
ThisWeek group
Falyn Sauer, 11, and her mother, Jen Palmer (on the left) have become close friends with Katya Harfmann and her daughter, Matilda Hopkins, 7 (right). The four, pictured in front of Stevenson Elementary School on Feb. 28, have bonded over a rare medical condition the two children have. Both Falyn and Matilda have vascular Ehlers-Danlos syndrome. Palmer, a fourth-grade teacher at Edison Intermediate Larson/Middle School, teaches Matilda's older sister.

Being an elementary school teacher can involve a bit of show and tell.

"You find your students are so interested in the behind the scenes of their teacher's life," Edison Intermediate Larson/Middle School fourth-grade teacher Jen Palmer said. 

"When I talk about my children, their ears perk up," she said.

Palmer set aside some time March 1 for a lesson that was personal.

She led a discussion with her students about Rare Disease Day, an annual event held on the last day of February. The European Organisation for Rare Diseases established the day in 2008 to raise awareness of rare diseases and the impact they have on patients' lives.

The event also aims to draw attention to the needs of those living with rare diseases, Palmer said.

Palmer's daughter, Falyn, 11, was diagnosed two years ago with vascular Ehlers-Danlos syndrome, an inherited connective-tissue disorder that causes patients to have fragile arteries, muscles and internal organs. Falyn is a fifth-grader at Eastgate Elementary School in Columbus.

Palmer's students have another connection to VEDS. Their classmate, Addie Hopkins, has a younger sister, Matilda, who also has been diagnosed with the condition. Matilda, 7, is in second grade at Stevenson Elementary School.

The two families have connected, offering each other support, Palmer said.

"It's just nice to know somebody else that's out there going through what you're experiencing," she said.

VEDS is rare, but the true number of how many people have the condition is difficult to pinpoint, Palmer said.

"Depending on the source, it's one out of every 200,000 up to one out of 500,000," she said.

"it's a genetic disorder you're born with, but a lot of people don't realize they have it until a fall or accident and a blood vessel ruptures," Matilda's mother, Katya Harfmann, said.

VEDS patients must limit their activity because a fall could lead to a rupture that could be fatal, she said.

When Falyn was in a bicycle accident and ended up in the emergency room, Katya was the first person she reached out to, Palmer said.

"Our daughters have a list of the things they can and cannot do," Harfmann said. "It's hard for Matilda because she wants to know why she can't play contact sports or climb on the playground equipment with her friends."

"What we try to do is encourage Falyn's interest in the things that she enjoys and are safe for her," Palmer said.

That includes art, hiking and playing violin, she said.

By coincidence, both Falyn and Matilda play violin, Harfmann said.

Palmer's family adopted Falyn from China when she was 6 years old.

"We knew something was going on, but we couldn't put our finger on it. We did a lot of tests, but they weren't  showing anything," she said.

Further genetic testing finally revealed the VEDS diagnosis and showed that Falyn has familial hypercholesterolemia (genetic high cholesterol) and a rare form of spinocerebellar ataxia.

Matilda was diagnosed with VEDS by age 2, Harfmann said.

"There's no way to cure it right now, barring some major genetic advancement," she said.

Treatments help make it less likely for ruptures to occur, but it's still unclear what type of treatments might work best, Harfmann said.

Because they affect so few people, rare diseases like VEDS don't receive as much funding and research as more prominent disorders, Palmer said.

Rare Disease Day is one way to raise awareness and encourage more support for research into the more than 6,000 rare conditions that have been identified, she said.

According to a National Institutes of Health website, rarediseases.info.nih.gov, in the United States a rare disease is defined as a condition that affects fewer than 200,000 people. An estimated 25 million to 30 million Americans are living with a rare disease.

The class discussion about the event was designed to raise awareness among her students about rare diseases but also that it's important to have empathy for others, Palmer said.

Falyn and Matilda each made videos with their siblings, talking about how they live with VEDS.

It's important that her classmates learned about Rare Disease Day because they may know someone who has a rare condition someday, Addie Hopkins said.

"My sister has a disease that affects like one out of every 300,000 people," she said. "So a lot of people don't know about it, and there aren't a lot of people trying to find a cure because they can't make as much money as they could with a more common disease."

VEDS is "really scary" because of all the fun things she and her sister can't do together, Addie said.

"If she fell on the sidewalk, that would be really dangerous for her," she said.

But a poster she had made for the Rare Disease Day discussion offers another way of looking at it, Addie said.

"The poster says 'stronger on the inside than on the outside.'" she said. "VEDS may have made Matilda's body weaker, but it's made her stronger on the inside where it counts."

Fourth-grader Harper Henry said he is glad Rare Disease Day is recognized.

"I think it's important to know about it because other people may have a rare disease you don't know much about," he said. 

Fourth-grader Anabel Kuhn said she was inspired by the discussion she and her classmates had with their teacher.

"It's made me want to do more to try to raise money for VEDS," she said. 

For more information about rare diseases and donation links, Palmer said, visit donation.rarediseaseday.org.

More information about Rare Disease Day is available at rarediseaseday.org and the National Organization of Rare Diseases website is rarediseases.org.

Both websites have donation links to support research, treatment and care for patients with rare conditions, Palmer said.

afroman@thisweeknews.com

@ThisWeekNews