Wednesday, February 29, 2012

Today is Rare Disease Day...

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.


  1. I am new to your blog, but feel for you and your daughter. I am 17 and was also diagnosed with several heart conditions later in life at 16. I have lost all of my faith in my doctors, and have such a hard time advocating for myself. You both are so strong, and will be in my thoughts. Sending much love your way, Liz.

  2. Hi Liz:

    I'm am so sorry that you have heart defects that weren't diagnosed either. This has to be change, too many kids are being diagnosed with them after they either have a episode, collapse and die, or like my daughter have another illness stem from it. My daughter is the same age as you are and she was diagnosed at 15 years old.

    It is difficult with doctors and there are some that I have lost faith in but, fortunately, Nicole has a very good cardiologist.

    I don't mean to pry or get too personal but why isn't your mom or dad advocating for you? Nicole is very shy and quite and she wouldn't do well with it either. I will always be a voice for her or in the congenital heart defect and pulmonary hypertension community.

    Look me up on facebook if you are on there. It is easier to find me through my email which is

    Please contact me anytime if I can be of any support to you. Have you looked up the Adult Congenital Heart Defect Associaton (ADHD)? They have a lot of good blogs and such.

    Jane ~ mom to Nicole, 17 yo, VSD, PAH, Eisenmengers (dx 1/22/10)
    BHJS (dx 2/4/11)
    "You're braver than you believe, and stronger than you seem, and smarter than you think."

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