On February 28th, four Long Island moms will join an international group of women who only know each other through Facebook because of the rare disease that affects their children to celebrate the First Annual International CDKL5 Yummy Mummy/Mommy Weekend.
Though very different in culture and background, these moms have found comfort in one another and share invaluable information through their online correspondence regarding their families’ battles with CDKL5, a rare genetic disorder that results in early onset difficult-to-control seizures and severe neurodevelopment impairment. While there are estimated to be only 600 cases worldwide at present, more children are being diagnosed as CDKL5 awareness spreads.
The event is just one in hundreds that will be held to mark the sixth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 24 European countries.On and around this day hundreds of patient organizations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan “Rare Disorders without Borders”
Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand! In addition to the Yummy Mummy/Mommy Weekend, the National Institutes of Health (NIH) will celebrate the sixth annual Rare Disease Day with a 2-day celebration Feb. 28th-Mar. 1st with various scheduled talks, posters and exhibits from groups relevant to the rare diseases research community, and recognition of the various rare diseases research activities supported by the Office of Rare Diseases Research - National Center for Advancing Translational Sciences (NCATS), the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration's Office of Orphan Product Development; other Federal Government agencies; the National Organization for Rare Disorders; and Genetic Alliance. The event will be held in the Natcher Auditorium (Building 45), 9000 Rockville Pike, Bethesda, MD 20892 from 8:30 a.m. to 5:00 p.m. on Thursday and from 8:30 a.m. to 3:00 p.m. on Friday. It will also be available via webcast. Attendance is free and open to the public.
The Rare Diseases Clinical Research Network (RDCRN) was established by the National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 150 clinical centers around the world. This increased cooperation may lead to discoveries that will help treat and perhaps prevent these rare diseases, as well as produce medical advances that will benefit the population in general. The Rare Diseases Clinical Research Network is comprised of a Data Management and Coordinating Center and 17 consortia studying over 100 rare diseases.
To learn more about the International Foundation for CDKL5 Research, readers can visit www.CDKL5.com. For more information about other Rare Disease Day activities throughout the US by visiting www.rarediseaseday.org.
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