Share Your Rare: Rare Disease Day 2019

Hi all! It’s Rare Disease Day! A day where the rare disease community gathers and shares their stories, raises awareness, and maybe even paints their faces! I’ve gathered some answers from five of my rare disease friends. They all have very different diseases, but all require, or have required, TPN currently or at some point along their journey.

I’m excited to share a little snapshot into their lives, so let’s get to it!

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Q: What is your rare disease?

A: A myriad of multiple complex chronic illnesses involving Ehlers Danlos Syndrome (TNXB mutation), Factor V deficiency, autoimmune and connective tissue disease, Chronic Intestinal Pseudo Obstruction, and Gastroparesis.

Q: Can you give us a super short description of what this disease is?

A: These diseases impact every organ system in my body. The most severe complications have been periods of intestinal failure due to Chronic Intestinal Pseudo Obstruction; where my intestines do not absorb nutrients and cannot handle fluid or food moving through them. I had to have an ileostomy placed; which means my colon is unhooked and I have a bag where my small intestine empties its contents into. I have a central line where I have received my nutrition and fluids for three years. My joints dislocate frequently, my skin tears easily, and I have struggles with wound healing due to my EDS. I have autonomic dysfunction, which means that my body cannot regulate basic functions such as heart rate, blood pressure, temperature, and more. Continue reading “Share Your Rare: Rare Disease Day 2019”