TOPIC: Rare Disease Day
NORD marks 10 years as official U.S. Rare Disease Day sponsor
Since the Rare Disease Day campaign was first launched internationally by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place across the world, reaching hundreds of thousands of people… Read More
TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members, Rare Disease Day
The following story was submitted by Sarah Stuker in honor of Rare Disease Day. In this story, Sarah shares her family’s journey of searching for and receiving a diagnosis for their daughter, India, of Spinocerebellar Ataxia.
Share your story for Rare Disease Day here.
This story is about our little girl, India, who will be… Read More
TOPIC: Advocacy, Featured News, Get Involved, Patient Stories, Patients & Members, Rare Disease Day
The following story was submitted by Lindsey McCarthy in honor of Rare Disease Day. In this story, Lindsey shares her family’s journey of receiving a diagnosis for their son, James, of a CNTNAP1 mutation. Read on to learn how the McCarthy’s have worked to find other families who are affected by this particular gene mutation and how… Read More
TOPIC: Rare Disease Day
Apellis Pharmaceuticals is a clinical-stage biopharmaceutical company focused on the development of novel therapeutic compounds for the treatment of a broad range of life-threatening or debilitating rare diseases through the inhibition of the complement system at the level of C3. Apellis was founded in 2008 with a dedicated focus to boldly control C3, and is the first company to… Read More
TOPIC: Patient Stories, Rare Disease Day
The following story was submitted by Danika Amott in honor of Rare Disease Day. In this story, Danika shares her family’s journey of receiving a 17q24.2-17q24.3 unnamed deletion and
Carney Complex diagnosis for their daughter, Ana.
Share your story for Rare Disease Day here.
We met five pound, six-week-old Ana in the… Read More
