CHARLOTTE, NC (WBTV) - In case you can't read Emily Cook's shirt:
"Rare Disease Awareness. It starts with a wish... It can end with a cure."
World Rare Disease Day is next Thursday, Feb. 28. Every year I highlight this day because “rare” disease isn’t really that rare. One in 10 people will be diagnosed with a rare condition at some point in their lives. Emily is a Shelby teenager who lives with a “rare” disease called KIF1A. It’s a neurological disorder.
Emily is a longtime one of our #MollysKids. When first featuring her less than two years ago, she was one of 66 cases worldwide. Her mom says there are now over 200.
With more cases comes more positive networking (mostly through Facebook), but overall, Emily’s life has gotten tougher.
"Emily now has a harder time walking," said mom Julie. "Her neuropathy is bad, and that makes her even more tired. She sleeps 14-16 hours straight most weekends just to get caught up from the school week. On the plus side, we're very fortunate her optic nerves and vision are stable. For the first time since her diagnosis, we're hopeful that the research might bring some results and possible treatments."
"My daughter amazes me every day."
Emily is pretty amazing. We've met at Christmas parties and book signings. She goes through much more than a typical 14-year-old and handles it well.
Rare Disease Day is important for Emily, and her family, just like it is with the many families who know how hard it is to have a child live with something that no one seems to know about. Every time they talk about it, it's starting at Ground Zero in the explanation. Every family I've ever met willingly does so -- they'll never pass up an opportunity to educate -- but it's tough to constantly describe the same thing over and over.
"The rare disease community reminds us all the time how important it is to keep the word out about the many rare diseases out there," Julie said. "We're excited this year because there is a KIF1A conference in New York in August. First of its kind! All the families on Facebook have been notified and are trying to get there. It'd be awesome to have Emily meet other kids with the same rare disease."
One doctor leading research into KIF1A is Dr. Wendy Chung, at Columbia University.
Julie says they plan to visit Dr. Chung in New York, that the doctor wants blood samples from each child because there are so many variants within the KIF1A mutation. Julie says it's her understanding three other children (total) have the exact mutation as Emily's.
"I'd greatly appreciate it if you could write about Rare Disease Day again," Julie wrote. "If not, I'll understand. I know there are so many #MollysKids with rare diseases and you did a post about Emily last year on February 28th. We still read it often. Thank you."
Julie is the sweetest woman around. It's really incredible. Like so many parents raising children with uphill battles, she looks out for others first. It's remarkable.
Love your shirt, Emily. Hopefully I'll get a chance to see you soon.
(And... yes. I am writing about this day a week early in case that helps you guys have extra days to share and get the word out.)
PS: For more on KIF1A, go to www.KIF1A.org
PPS: For more on Charlotte first ever World Rare Disease Rally this Saturday, February 23rd (post I wrote this week).
**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.