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Rare Disease Day strives to raise awareness, support

Story by Kathryn Kriss

Many uncommon and rare diseases affect very few people in a population.

These diseases and disorders often strike quietly, affecting an individual from birth or developing over time. Some are curable, some are not. All have a profound impact on the patient and his or her family.

Rare Disease Day was created to celebrate the strength and courage of those infected with a rare disease and their loved ones who support them.

On Feb. 28, countries all around the world will host events to raise awareness for people fighting these rare diseases.

The day doesn’t stop there. The National Organization for Rare Disorders, the sponsor of Rare Disease Day, has a pledge on its website where visitors can click the “raise your hand” link to pledge to spread the word.

At no personal cost to the hand raiser, each click guarantees a $1 donation from the Lundbuck fund up to a $10,000 maximum.

First-year pharmacy student Hannah Sauer has always been passionate about Rare Disease Day and is going out of her way to spread the word across campus.

“There are personal connections to Huntington’s Disease in my family, so I follow their Facebook page, and Rare Disease Day was on one of the links they posted,” Sauer said.

After a bit of investigation, she found out about NORD and the pledge and has been encouraging everybody she knows, especially her friends and pharmacy fraternity, to click and pledge.

Sauer said that it’s the easiest way to get involved and spread the word.

She said she thinks NORD is a much-needed organization. Aware of how lonely it can feel to be in the minority, she said, “It’s important to have an umbrella organization that reaches out to all rare diseases.”

Since people with rare diseases usually have similar experiences of isolation and confusion, it helps to have a network of patients, friends and families going through the same thing.

Junior Josh Bonello had no idea that Rare Disease Day existed but said he realizes that the diseases should be more widely understood.

Even though few people give regular attention to the disorders and they’re “uncommon enough that the average person wouldn’t worry about,” Bonello says that it’s important to stand up and recognize the disease for the sake of the medical industry.

Medical professionals work hard to research, diagnose and treat uncommon diseases that can have tricky or hidden symptoms, and are more complicated than the average flu.

“To fully appreciate the industry we have to appreciate the disease,” Bonello said.

While no official percentage or number has been agreed upon to qualify something as a rare disease, it has to affect a small percent of the population.

Most are genetic, most show symptoms early in life, and many are fatal.

“As genetic disorders, they are different from a common disease such as influenza which is caused by a virus,” said biology professor Heidi Sleister.

Some examples of genetic rare disorders would be Huntington’s, a muscular and cognitive degenerative disorder; Noonen Syndrome, associated with heart problems and distinct facial features; and incontinentia pigmenti, associated with abnormal pigmentation.

All three of these disorders are dominant.

“A person only needs one dominant defective allele to have the disorder,” Sleister said.

Because only one allele out of the possible two is enough to cause the disease, patients have a high chance of heritability in family bloodlines.

If you know somebody who has a rare disease, go to the website. Click the icon to raise your hand. And make sure you let them know that you support them in their fight.


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