Humans of Rare Disease
Welcome to Humans of Rare Disease
This collaborative effort features people in the rare disease space: patients, advocates, researchers and healthcare professionals alike. We have encouraged them to share their stories and offer readers a window into their lives. Enjoy and share!
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''I am a patient and healthcare advocate. As a patient, I live with Short Bowel Syndrome and was dependent on Parenteral Nutrition until I received an intestinal transplant in December of 2020. As a healthcare advocate, I have a strong focus on the intersection of psychology and managing chronic illness, specifically on medical PTSD in patients with chronic and/or rare illness and how it impacts treatment outcomes as well as what can be done.''
Short Bowel Syndrome, Intestinal Transplant, Medical PTSD
''I did not start puberty at the normal time. As a teenager I was labelled as a "late bloomer" and told just to wait and see.
Even at the age of 19 and attending University I still had not started puberty but no doctor seemed to know what was wrong, I kept being told just wait and it would start eventually.
It was not until the age of 23 that I had a chance encounter with an endocrinologist who worked at the same hospital where I worked as a biomedical scientist.
After telling him about my la...
''My name is Dan Dry Dock Shockley, retired U.S. Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and 9 year hereditary colon cancer WARRIOR w/a permanent ileostomy.
In May 2012, while I resided in Hawai’i, my first and only colonoscopy at age 51 was performed.
The results revealed 100 polyps embedded throughout my colon, rectum and anus. Based on these findings I visited a Certified Genetic Counselor. Germline DNA sequencing testing was initiated. I had not experienced any symp...
Attenuated Familial Adenomatous Polyposis