Sibilings Have First Known Cases of Duplication Chromosome 14q32.33


Vanessa and Jacob both suffer from a very rare genetic disease. They are the first known cases of duplication chromosome 14q32.33. They both have low muscle tone, vision problems, weakened immune systems, asthma, OCD, ADHD, and heart defects. Vanessa has non alcoholic steatohepatitis, glaucoma, her […]

Niko Syndrome – Our Search For A Diagnosis For A Rare Disease


Our eight-year-old Nico could likely give a pretty extensive tour of the Hospital for Sick Children (SickKids), his home away from home.  He could show off all the places he spends his time at:  the neurosurgery clinic; ophthalmology clinic; ears, nose and throat clinic; dermatology; […]

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 […]

Are You a Blogger? Join our Blog Hop for RARE disease!


We are calling all bloggers to join us in a RARE disease focused blog hop on Monday, January 30th which will be 30 days before World RARE Disease Day. What is a blog hop? A blog hop is when bloggers write about a common theme/topic […]

Occidental College Soccer Team promotes the Global Genes Project Wear That You Care campaign

Jenny Clark, Callie King-Guffey, Megan Leslie, Tayler Renshaw, Maddy Rasch, Andrea Loh, Alex Nicholson, Whitney Roline, Georgia Wetmore, Lauriene Madrigal, Emily Strombom, Kate Buss, Liz Martin, Elissa Minamishin, Kelley Murayama

The Occidental College women’s soccer team located in Los Angeles, CA, came together to support the Global Genes Project and the blue jean ribbon campaign to support rare disease awareness.  The players set up posters throughout the school to promote their efforts as well as […]

Learning to balance privacy and the call of advocacy

As with anything, it turns out there is learning curve to using my personal blog as a platform for advocacy. It is a challenge that I am having to deal with the more lately, as the date for my son’s next surgery looms near. This will […]

R.A.R.E. Project's, Jonathan Jacoby to present at FDA Hearing on Rare Disease

On Tuesday, June 29, 2010, and Wednesday, June 30, 2010, FDA’s Office of Orphan Products Development will host a two-day public hearing and Webcast on the Development of Articles for Rare Diseases. This public hearing is intended to gain from health care providers, academia, industry, […]