B’More Inclusive: What is Rare?

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When you hear hoof beats, think horses—not zebras. This is what doctors are taught during their training, meaning that the first and more likely diagnosis is the one they should be thinking about. But what about when it really is a zebra?

This was the case for Inez Vazquez. Her 7-year-old daughter, Violet Colone, is the first person in Maryland to be diagnosed with TBCK syndrome.

Inez Vasquez and her 7-year-old daughter Violet Colone. The family is working with Kennedy Krieger Institute to research Violet’s rare disease, TBCK syndrome. | Photo courtesy of Kennedy Krieger Institute

TBCK is a rare neurogenetic disorder characterized by decreased muscle tone, developmental delay and intellectual disability, but the list of potential symptoms is long and highly varied.

And the term rare is not used loosely.

“When we think about a rare condition, in general, we’re talking about conditions that exist in less than 1 in 1,000 individuals in a population,” says Dr. Mahim Jain.

Jain works with Kennedy Krieger Institute’s osteogenesis imperfecta clinic. Osteogenesis imperfecta is a rare genetic bone condition more commonly known as brittle bone disease. This condition puts those with it at a heightened risk for bone fractures, hearing loss and teeth abnormalities.

According to the National Institutes of Health, osteogenesis imperfecta is just one of more than 7,000 rare diseases.

Violet—now patient ambassador for the Baltimore-based Kennedy Krieger— and her mother work with Jain and one of the syndrome’s co-discoverers, Dr. Xilma Ortiz-Gonzales, at Children’s Hospital of Philadelphia (CHOP), on Violet’s treatment. According to CHOP, Violet’s condition is so rare, there are only 35 reported cases worldwide.

Violet with Dr. Jain | Photo courtesy of Kennedy Krieger Institute

“It’s a hard process, but Kennedy Krieger helped us a lot—to get our team together,” Vasquez says.

For children who find themselves with one of these 7,000+ rare diseases, it can be a tough journey because their condition is often harder for doctors to recognize.

“We got [Violet’s] diagnosis when she was 2. They had to do a special DNA test to check for it. A lot of insurances don’t cover it, or it’s not the first test the doctors do,” Vazquez says.

This is why families touched by rare diseases advocate for more awareness. Rare Disease Day, celebrated on Feb. 28, provides visibility and opportunities for advocacy so they can get the support they need.

And parents such as Beth Frigola-McGinn are taking an active role in raising awareness and providing advocacy for a community that too often feels unheard or forgotten.

Frigola-McGinn was working on Capitol Hill in Washington, D.C. when she found out her daughter was diagnosed with a rare disease, in 2011.

“At first, Ellie met all her milestones,” Frigola-McGinn explains. “It started with her not being able to do some things, struggling on the balance beams. I remember thinking, ‘I hope something’s not wrong.’”

“There is nothing that prepares you [for it],” she says.

Her daughter Ellie, 14, has a condition known as LBSL (Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation). LBSL is characterized by a range of neurological issues. People with LBSL typically experience stiffness of the muscles, weakness and difficulty coordinating voluntary movements.

Similar to the far more common multiple sclerosis (MS), it affects the myelin sheath, but LBSL is not an autoimmune disease.

Now Frigola-McGinn uses her political prowess to dedicate herself to advocacy full time. In 2013, she founded A Cure for Ellie (now Cure LBSL) with the mission to spread awareness about the condition, offer support to other families and drive research toward finding a cure.

According to Frigola-McGinn, since it began its mission, the Cure LBSL team has raised nearly $3 million dollars for research. The foundation has also led to the formation of a strong online community.

For many, an online community is key to feeling supported on a daily basis.

“I was overwhelmed at first, and scared to share. But then you see your kid, and she’s just stronger than what they tell you,” Vazquez says. “I probably worry about [Violet’s condition] more than she does.”

Violet and her mother, Inez Vasquez| Photo courtesy of Kennedy Krieger Institute

The future can be uncertain when dealing with conditions we know very little about, but through the efforts of parents, doctors and researchers, science is making promising strides every day.

Kennedy Krieger neurogenetic specialist Ali Fatemi, M.D., is one of the researchers searching for a cure for McGinn, with research plans ranging from those that involve new techniques, from nanomedicine to stem cell therapy, to gene editing.

Meanwhile in Philadelphia, CHOP is looking at a whole classification of genes using high-throughput screening (HTS). HTS allows researchers to quickly conduct millions of chemical, genetic or pharmacologic tests.

According to Frigola-McGinn, these tests are being used to see which potential medications already in use might also be helpful for conditions affecting certain genes.

Vasquez knows that even with these strides, there is still a long fight ahead.

“People have to stay strong, and it is a fight,” she says. “I love calling our kids TBCK warriors. That’s what it takes to fight this rare condition. You really do have to be a warrior.”

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