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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 Valaree DonFrancesco

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

February 4, 2020

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

Tucker’s Story in Honor of Rare Disease Day

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

This story is about my husband, Tucker. In 2004, we began to notice that he wasn’t able to play guitar like he used to, as well as that he was stumbling and falling down more. We went to the doctor and eventually he was diagnosed with Lou Gehrig’s disease,… Read More