2q37 Deletion Syndrome: Searching for Answers
Patient Stories of Hope and Inspiration ‘Meet Aiden!’ The day after my son Aiden was born, the doctors noticed that his features were different from what they considered “normal”. As a new mom this frightened me, as I did not know or understand what was happening with my brand new baby. A geneticist [...]
USA Today Spotlights FDA Approval
Advocating for your children can and does make a difference! On March 6, USA Today published an article spotlighting a brave family with twin girls suffering a rare and fatal genetic disease. Niemann-Pick Type C disease, often called childhood Alzheimer’s disease, has brought the Hempel family through rigorous challenges and constant battles in an effort to keep [...]
NIH Supports Global Genes Project and Jeans/Genes Awareness Efforts
Over the past two years, the Global Genes Project efforts have been highly visible at the NIH for the annual World Rare Disease Day events. In 2012, we presented Dr. Francis Collins and Dr. Steve Groft with a Rare Pictures of Hope™ photo book made by thousands of rare disease advocates. In 2011, Nicole Boice, [...]
Zak’s Promise
“Opening Doors” For Prader-Willi Syndrome My wonderful son Zak was born with a rare genetic disease called Prader-Willi Syndrome (PWS). Although my wife and I may not have felt lucky at the time, we now know that we were blessed with good fortune when Zak was diagnosed as a newborn. Kids were mostly being diagnosed with [...]
Patient Stories of Hope and Inspiration – ‘Meet Sydney!’
‘MEET SYDNEY!’ Life couldn’t have been more perfect. My husband and I had great jobs, we bought a house in the country and we had 2 healthy twins, a boy and a girl. Life was good. We moved to our house when the kids were 2 years old. A year later, life as we knew [...]
February 29 – A Celebration of Unity
The Month of February During the month of February, much of the American population will be celebrating historical events, special interest groups and campaigns. Some of these include Black History, American History, Children’s Dental Health, and American Heart Month. Internationally recognized events in February include National Embroidery month (my favorite), Wild Bird Feeding, Cherry and [...]
RARE Disease Events
Don’t miss these other great Rare Disease Day events in DC! Monday, February 27, 2012 RDLA Luncheon Meeting & Conference Call 12:30 – 2:00p.m. at 750 9th Street NW, Suite 750 Washington, DC 2nd Annual RDLA Cocktail Reception and Movie Screening 5:30p.m – 9:00p.m at the West End Cinema, 2301 M Street NW, Washington DC Featuring: The [...]
RARE Disease Lobby Day
WHEN: February 28, 2012 WHERE: Washington, DC WHO: RDLA RDLA (Rare Disease Legislative Advocates) is partnering with the EveryLife Foundation for Rare Diseases, RARE Project, Sarcoma Foundation of America, Darlington House and ViroPharma to ensure that rare disease advocates are present on Capitol Hill during Rare Disease [...]
ACTION ALERT – World RARE Disease Day at National Institute of Health
Rare Disease Day at NIH (RDD@NIH) On February 29, 2012, the National Institutes of Health (NIH) will celebrate the fifth annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers; [...]
75 Days Until World Rare Disease Day!
It’s December 15th and that means only 75 days left until World Rare Disease Day on February 29th, 2012! The number 75 is significant for the rare community. According to the NIH’s Office of Rare Disease Research, 75% of RARE diseases affect children making this disease category one of the most deadly and debilitating for [...]