Long Island, NY - January 28th, 2013 - February 28 is Rare Disease Day, which is an international advocacy day to raise awareness for those living with a rare disease. On this day in 2013, four Long Island moms will join an international group of women from around the world who know each other only through Facebook because of the rare disease that affects their children.
They will meet face-to-face for the first time at a weekend event in Manhattan that they have named, “The First Annual International CDKL5 Yummy Mummy/Mommy Weekend.” Though very different in culture and background, these women have found solace in one another and share invaluable information through their online written words during their children’s battle with a rare disease that is cryptically referred to as a “CDKL5 Disorder.”
A CDKL5 Disorder is a rare genetic disorder that results in early onset, difficult-to-control seizures, and severe neurodevelopmental impairment. There are possibly as many as 600 cases worldwide to date but more children are being diagnosed as awareness of CDKL5 spreads.
The ladies will share the New York City experience through laughs and tears during a thoroughly thought out itinerary of activities like tours and fine dining. Besides being a well deserved short break from the stress of being a mom of a child with special needs, the First Annual International CDKL5 Yummy Mummy/Mommy Weekend coincides with Rare Disease Day because no matter where they are, these moms are always thinking of ways to create awareness so that more can be done to help their children.
While families battling rare diseases often struggle with grief and despair, frustration from a lack of knowledge from the medical field in their local area, and feelings of isolation, many are using social media to share knowledge and provide comfort. Technology has provided a means to unite these families who may have never met otherwise, and the bonds formed are invaluable. The horror of what children with CDKL5 endure can only be fully understood by other families going through the same thing.
“When your child is diagnosed with a disease, you listen to the doctor as shock settles in, then google the disorder as soon as the doctor leaves the room. Then you find out that your child’s disease was discovered fewer than 10 years ago and doctors know very little about it other than its symptoms. That’s when online resources such as our closed Facebook group becomes crucial not only to our sanity but to our children’s lives,” says Patti Waszkiewicz, one of the Long Island moms attending the NYC gathering. “I can’t wait to meet the other ladies in person!”
The dedication and solidarity of fewer than 300 families have accomplished in a few years what has taken some groups decades. The families and their supporters have managed to unite and form the International Foundation for CDKL5 Research (IFCR), and the CDKL5 UK, its British counterpart, that raise money for research of treatments and eventually a cure for children with the CDKL5 Disorder. The CDKL5 UK foundation has hosted similar Yummy Mummy weekends, most recently in Manchester, England, in 2012, but they expanded the experience this year to include the rest of the world.
The IFCR and CDKL5 UK are comprised completely of volunteers, but they have managed to accomplish substantial goals in their short years of existence. 2012 brought the first successful mouse model of the disease, which is a first step in providing a test subject that may be studied by dozens of international research entities.
Next month, IFCR will join the National Organization for Rare Disorders (NORD) and rare disease patient advocates in more than 60 countries around the world in observing Rare Disease Day on February 28. This international advocacy day focuses attention on the challenges faced by the 30 million Americans - and millions more globally - living with rare diseases.
This year, Rare Disease Day will have special significance in the U.S. because 2013 marks the 30th anniversary of the Orphan Drug Act, a key piece of legislation for the rare disease community. It also marks the 30th anniversary of NORD since that organization was founded by patient leaders who worked together to secure enactment of the Orphan Drug Act, which provided financial incentives to encourage the development of treatments for patients with rare diseases.
The theme for Rare Disease Day 2013 - Rare Disorders Without Borders - emphasizes global solidarity. Taking this theme literally, the International CDKL5 Yummy Mummies and Mommies are taking Manhattan by storm, to bond in person after months or even years of online and/or phone communication.
Not unlike typical tourists, the group hopes to enjoy the sights and sounds of The Big Apple, a fantastic backdrop for cementing long-distance friendships. They also hope to bring awareness to their children’s horrible disease that brought them together.
To learn more about International Foundation for CDKL5 Research, visit www.CDKL5.com.
NORD (www.rare diseases.org) is a nonprofit organization representing all Americans affected by rare diseases and assisting rare disease patient organizations. It provides programs of advocacy, education, research and patient/family services.
For more information, please contact:
Katheryn Elibri Frame, DO
President, International Foundation for CDKL5 Research
Regional Family Liaison, International Foundation for CDKL5 Research