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I am a wife and mother who also has cystic fibrosis and a mitochondrial disease.

Tuesday, February 25, 2014

Rare Disease Day

February 28, 2014 is Rare Disease Day! One in ten Americans live with a rare disease, and it's time we raise awareness for ALL of the rare diseases out there. Do you know about a rare disease? Spread the word make a post on your blog, Facebook, tweet about it - be annoying and LOUD! Make it so people have no choice but to listen to you!!!

Cystic Fibrosis is a rare disease, listed on NORD (National Organization for Rare Diseases).


They have a list available on the website. According to NORD's page on CF,

"Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body especially those that produce mucus. Saliva and sweat glands may also be affected. Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lungs)or externally (e.g., sweat glands). In cystic fibrosis, these secretions become
abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection. The symptoms of cystic fibrosis can vary greatly in number and severity from one individual to another. Common symptoms include breathing (respiratory) abnormalities including a persistent cough, shortness of breath and lung infections; obstruction of the pancreas, which prevents digestive enzymes from reaching the intestines to help break down food and may result
in poor growth and poor nutrition; and obstruction of the intestines. Cystic fibrosis is slowly progressive and often causes chronic lung damage, which eventually results in life-threatening complications. Because of improved treatments and new treatment options, the outlook and overall quality of life of individuals with cystic fibrosis has improved and nearly 50 percent of individuals with the disorder are adults. Cystic fibrosis is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is inherited as an autosomal recessive trait."

I challenge EVERYONE reading this blog to go to their site, and look at their list find something out about rare diseases.

What makes a disease rare?

A disease which affects less than 200,000 people is what constitutes a rare disease in America. The National Institutes of Health says that there are 6,800 of these diseases, which means together they affect approximately 30 million people.

There are pages on Facebook that you can "like" that have info that you can easily share about Rare Disease Day. I'll share a few links below:

What is a rare disease video


What is it like to have a rare disease video


Also on Facebook look up:

Rare Disease Day US - https://www.facebook.com/RareDiseaseDay.US

the Global Genes Project - https://www.facebook.com/globalgenesproject

NORD - https://www.facebook.com/NationalOrganizationforRareDisorders