Shakes and Stones — Life with Cystinuria and CIDP


Hi, my name is Andy. I was born in Watford in the UK back in 1975.  In 1994, I moved to Australia to attend University.  This is also the same year my medical problems started with my first kidney stone a week before my nineteenth […]

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; […]

Marshall and Me – My Hero Brother Is Fighting Krabbe Leukodystrophy


At 17 months of age, he was diagnosed with a rare Leukodystrophy called Krabbe’s Disease. A genetic disorder affecting the nervous system and it’s communication to the brain. There is NO CURE and it is fatal! Once my family and our doctors determined what was […]

Blog Hop for Rare Disease Day – Please Read, Share and Raise Awareness!


There are less than 30 days to World Rare Disease Day on February 29. We kick off our campaign this year as host of a Rare Disease Blog Hop. Over 40 bloggers united to blog today to raise awareness about this important day and on […]

Charities Unite Worldwide to Fund Research into Reversibility of Brain Damage Caused By Sanfilippo Syndrome


Charities Unite Worldwide to Fund Research into Reversibility of Brain Damage Caused By Sanfilippo Syndrome (RARE Project – Dana Point, CA) Rare Disease affects 350 million people worldwide, consisting of 7,000+ identified diseases and disorders.  Currently less than 5% of all rare diseases have any […]

Sempra Energy and Kids Helping Kids Volunteers Supporting Global Genes Project

Kyle and Jackson Watkins, with Lynn Watkins and Lisa Hubbard of Sempra Energy Supporting Global Genes Project

Sempra Energy Foundation and Southern California rare disease advocates work to raise awareness and volunteer for the Global Genes Project, a RARE Project initiative. Family and friends gathered together to help make denim ribbons in support of the Global Genes Project’s efforts to support those […]

World RARE Disease Day at National Institutes of Health


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 […]