I would like to introduce, Kristin my patient partner who has Cowden’s Syndrome. I am living an amazing life. I have a MBA, I have run marathons, I have completed triathlons, I have lived in Europe, and I am a…

Ed and Anne tell their story of ups and downs they’ve faced learning their son, Christopher, has Congenital Hyperinsulinism. Christopher Johnson is our 8 year old son. Christopher has two brothers; Thomas who is 10 and William who is 6.…

Congratulations TEAM GENZYME “Running for Rare Disease” … you have just had Wylder the Whale adopted for your team by Wylder Nation.  Wylder is a 7 year old male humpback whale that was identified off the coast of Maui in…

The following blog post was written by my patient partner’s father, Chris,  who completed his first marathon this past year.  His son, Will, was born with the same rare disorder I have – Homocystinuria (HCU).  My two 20 mile training…

The video below, created in 2008 as part of the 25h anniversary of the National Organization of Rare Disorders (NORD), provides background on the organization and its mission. Patient partner Donnie, who has Rubinstein-Taybi Syndrome, is featured at 4:05.

Below is an essay written by my 2013 patient partner, Gail Rosenberg.  Gail lives with a disease called Idiopathic Hypoparathyroidism. Sometimes, it’s possible to recall the exact moment when your life has changed forever.  One such moment for me came…