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February 29, 2020

TOPIC: Featured News, Advocacy, Patient Stories, Rare Disease Day

Ashlee’s Story in honor of Rare Disease Day

Posted at February 2, 2020 10:00 am by Valaree DonFrancesco

I was diagnosed with primary immunodeficiency when I was four years old. With primary immunodeficiency, the assumption is that “it’s just an infection” or that it’s normal because “kids get sick.” The problem was that I was never getting better and was fighting for my life every time I was… Read More

February 26, 2020

TOPIC: Featured News, Patients & Members, Advocacy, Patient Stories, Get Involved, Rare Disease Day

NORD Debuts Rare Disease Day 2020 Video

Posted at February 2, 2020 07:20 am by Laura Mullen

This year, NORD has developed a brief video for Rare Disease Day featuring rare patients, caregivers and supporters sharing their thoughts on the importance of the day and relaying the rallying cry, “Show Your Stripes!”

Show Your Stripes takes its cue from the zebra, mascot of the rare disease community, which is known for its distinctive… Read More

February 25, 2020

TOPIC: Patients & Members, Advocacy, Patient Stories, Rare Disease Day

Why Rare Disease Day Is Important to Me, by Chris Madden

Posted at February 2, 2020 08:10 am by Laura Mullen

Does anyone ever think that they may have a rare disease? Well, I for one definitely didn’t. Here I was, having my annual check-up with my very astute dermatologist, who noticed an unusual clustering of red spots on the palms of my hands. She immediately sent me to a local New York hematologist who, after several blood… Read More

February 4, 2020

TOPIC: Patients & Members, Patient Stories, Rare Disease Day

Gina and Gia’s Story in Honor of Rare Disease Day

Posted at February 2, 2020 10:10 am by Valaree DonFrancesco

My daughter Gia was diagnosed at birth with the rare disease sickle cell. Gia has had 5 bouts with pneumonia, many stays in ICU, and nine blood transfusions. Sickle cell disease (SCD) is a genetic blood disorder that causes normal red blood cells to be shaped like a “sickle,”… Read More

February 4, 2020

TOPIC: Patients & Members, Patient Stories, Rare Disease Day

Wyatt’s Story in Honor of Rare Disease Day

Posted at February 2, 2020 10:00 am by Valaree DonFrancesco

This story is about our son, Wyatt, who was diagnosed with Coats plus syndrome at the age of ten. The story starts with my pregnancy. At 26 weeks, during a normal pregnancy, I suddenly felt the baby stop moving. Fearing I had lost my baby, we rushed to the… Read More