Rare Disease Day — also known as Rare Genes Day — is a globally coordinated movement that takes place around the last day of February, and will be celebrated with a Redding event this year on March 3. Since its creation in 2008, this day has played a crucial part in raising awareness, building community and promoting advocacy for those living with rare conditions.
More than 400 million people worldwide are affected by rare diseases, and 70 percent of those conditions are genetic. In the United States, a condition is considered rare if it affects fewer than 200,000 people. Other countries have different definitions of “rare.” In the European Union, a disease is rare when it affects fewer than one in 2,000. Some conditions are so rare that a person may never receive an official diagnosis, and while research is constantly improving, the exact cause of many genetic disorders remains unknown.
A cause close to this 15-year-old’s heart
For the past two years, 15-year-old Chlöe Monét Wilder of Shasta County has been leading the way in raising awareness about rare genes. For her, it’s a cause that is close to her heart. Her younger brothers, 10-year-old Ansel and 5-year-old Luca, were born with Wolf-Hirschhorn Syndrome. This rare condition is caused by a deletion on the fourth chromosome and affects fewer than one in 50,000 people. Chlöe explains: “It can cause difficulties with walking and talking and other day-to-day things we take for granted.” Chlöe says having siblings with special needs isn’t always easy, but, “I wouldn’t change them for anything. I love them just the way they are!”
With the help of friends and family, she has organized guest speakers, raffles, educational presentations and a bike-a-thon. Proceeds from the events have gone to organizations such as Global Genes and the 4p-Support Group Organization. The 4-p Support Group’s mission is to improve access to information for parents, family members and care providers of individuals who have a 4th chromosomal abnormality. Both organizations are dedicated to providing support, education and resources to those affected by rare genetic conditions.
An opportunity to work toward a more inclusive society
Rare Genes Day is an opportunity to work toward a more inclusive society. Despite advances in research and medicine, there is still a significant lack of understanding and awareness surrounding rare diseases. As a result, some families spend years trying to get a diagnosis. This can have long-term consequences, as insufficient knowledge makes identifying symptoms and obtaining available treatments more difficult. Early detection and intervention can help most individuals get the treatment and therapies they need to reach their full potential.
Individuals living with rare diseases often face the issue of people — even medical professionals — making unfounded assumptions about their competence. However, as Chlöe knows, the abilities of people living with rare conditions should never be underestimated. In a video from last year’s Rare Genes event, Chlöe described the uncertain prognosis her brothers faced when they were born. The family was told that Ansel and Luca might never walk or talk. Yet today, Ansel is walking, and both boys can communicate with assistive technology. Despite their many challenges, they are thriving.
Everyone is rare, in their own way
Although Rare Genes Day is observed in February, Chlöe says, “People living with rare conditions and special needs need to be treated the same as the rest of the world during the rest of the year. We need to treat them no differently than how you or I would like to be treated.”
She wants people to understand that everyone is unique and rare in their own way. “People with rare genes shouldn’t be perceived as ‘different’ or ‘weird’ because, in reality, we all have unique genes that make us who we are,” she says. She adds, “God made us all special. (People with rare genes) have feelings too, just like us. And they deserve the same respect and love as the rest of us.”
This year’s Rare Genes event is at the Redding Library on Thursday, March 3, from 5 to 7 p.m. The event will include food, activities, guest speakers, merchandise to purchase and a silent auction.
For more information or to register for the event, visit: eventbrite.com/e/rare-genes-day-tickets-235013972117
To see and purchase merchandise specially collected for the event, visit bonfire.com/store/rare-genes-day
For more information about rare genes, visit: globalgenes.org and rarediseaseday.org
Posted in: Special Needs, Uniquely Us
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