Wednesday, Feb. 28 is Rare Disease Day - | WBTV Charlotte

Wednesday, Feb. 28 is Rare Disease Day

(Credit: Photo provided by family) (Credit: Photo provided by family)
SHELBY, NC (WBTV) -

Emily Cook, 13, is one of the millions of kids around the country living with a “rare” disease. Wednesday is “Rare Disease Day," and if you don’t think this is a big deal, you’re wrong.

I did some research (thank you, Google) and found the following:

  • 7,000 rare disorders are known to exist.
  • New ones are discovered each year.
  • Rare disease affects 25-30 million people in the U.S.
  • One in 10 Americans live with a rare disease.
  • And, children represent the vast majority of those afflicted.

That term “rare” disease is a funny one. I’ve talked with expert doctors at hospitals around the country who scoff over the word “rare."

Though every disease is different, it's sometimes only minute differences. Yet, because of those differences, they end up classified separately. It creates thousands of orphan diseases. Those who suffer often feel like they’re on an island…clusters and clusters of islands, some sharing a time zone and similar traits, but all labeled as individual spots.

Which is why days like Wednesday are important.

Feb. 28 is a day where people around the world suffering from “rare” diseases shout for attention to the fact there are so many individual conditions. Emily is one of those people.

“This is our first Rare Disease Day since her diagnosis of KIF1A last June,” her mom Julie wrote. “I know lots of your #MollysKids have a rare disease – I wanted to tell you what I have learned from having a child who lives with one.”

Julie said the hardest thing is ALWAYS having to explain KIF1A to everyone they meet. The simple definition? It’s a rare genetic disease that affects Emily’s development. Though she’s 13-years-old, she has the mentality of a 7-year-old.

“We even have to explain the effects of KIF1A to specialists we see,” Julie said. “We’ve only ever seen one doctor who knew more about my daughter’s illness than we do. He was in New York and leading the research. How crazy to think we educate most everyone else.”

Though it’s “rare”, just Tuesday we met the newest one of our amazing #MollysKids, who happens to also live with KIF1A. Adyson Hayes is in Conover. 

PREVIOUS: Molly's Kids: Adyson Hayes. Ever heard of KIf1A?

“Seeing her story made me jump out of my chair!" Julie said. "We have felt like we could go through the rest of life and never meet another child with the same diagnosis, except through Facebook groups. We were thrilled to hear about Adyson. It gives you a little sense of community.”

On Wednesday, Emily is meeting with a neruo-ophthalmologist because KIF1A causes optic nerve atrophy. Fitting. Emily will be spending Rare Disease Day like many others: monitoring her level of degeneration from this disease.

“I know other parents have been in this ‘rare disease’ world longer than we have, and could tell you more about the uphill battles,” Julie said. “But I wanted to write anyway. Wanted you to know how helpful it is to read about other children who go through similar paths as ours… maybe not exactly the same, but sometimes close enough I can feel a connection. #MollysKids are some of the bravest, most amazing children I have ever heard of. These kids deserve to find each other.”

Thank you, Julie, for writing.

Thank you, Emily, for letting your mom share your story. Love this new photo of you in your “Cure KIF1A shirt”.

PREVIOUS: Molly's Kids: Ever heard of K1F1A? Neither had this family, until their daughter was diagnosed

Use this post to spread the word. Of all days, Wednesday should be one where you use an offered platform to educate the world on an orphan disease you want more people to understand.

- Molly

This website has great information on rare diseases. 

**Editor’s note: This is about one of #MollysKids, children WBTV Anchor Molly Grantham follows closely on her Facebook page. It was first published there, which is why it’s written in a personal way. For years Molly has followed hundreds of kids with uphill medical battles. Find this story and updates on all #MollysKids here.**

Powered by Frankly