The last day of February is Rare Disease Day. A rare disease is one that affects fewer than 200,000 people which is defined by the Orphan Drug Act of 1983.
There's nearly 7,000 rare diseases affecting nearly 30 million Americans. 1 in 10 Americans suffer from a rare disease.
My daughter, Nicole, has more than one rare disease. She has pulmonary arterial hypertension (PAH; PH) which is high blood pressure within the arteries of her lungs that can lead to heart failure. She has Eisenmenger's Syndrome which is a rare progressive heart condition that develops from some congenital heart defects (her defect is one of them) . This disorder is characterized by the increased blood pressure in the main pulmonary artery connecting the heart to the lungs and improper blood flow to the heart. She also has benign hypermobility joint syndrome which in some medical circles is Ehlers-Danlos Syndrome (EDS) which is a group of hereditary connective tissue disorders. The only way to get a true diagnosis of EDS is through genetic testing.
I didn't realize so many of the diseases that I had heard of are rare diseases such as Scleroderma; Cystic Fibrosis, Lupus, Multiple Sclerosis just to name a few.
I have changed my profile picture on Facebook to the perwinkle ribbon which is the symbol for PH in honor of Rare Disease Day and Nicole to hopefully make people more aware of some of these and the need for research so cures can be found for my daughter and for all the others with rare diseases.