During Rare Disease Week, I have met the most amazing patients and advocates whose personal experiences have kept me motivated to continue spreading awareness not just for my disease, but all rare diseases. It is true, separate we are few, together we are strong.
I met a particular group of individuals from the International Pemphigus and Pemphigoid Foundation, and their stories shocked me into finding out more about these rare conditions.
Pemphigus and pemphigoid includes a few autoimmune diseases that typically have blistering of the skin and mucous membranes in common. Basically, the immune system doesn’t recognize epidermal cell junctions and the epidermis basement membrane respectively, so the body attacks itself, resulting in blisters. The conditions are not contagious and they are not genetic.
One of the conditions under the pemphigus umbrella, pemphigus vulgaris (PV), strikes without rhyme or reason, generally at mid-life, and typically first presents in the mouth.
Pain like itching and burning are usually accompanied with these blisters, and more severely, the blistering can lead to fluid loss, nail loss, infection, damage to mucosa like the eyes, and pigmentation changes, among other horrible symptoms.
Just wait… I haven’t even gotten to the other challenges with this disease.
Because these conditions are rare, with about 30,000 patients in the U.S., medical professionals typically don’t really recognize the signs and symptoms for prompt diagnosis. That means Dentists, ENTs, Dermatologists and/or PCPs are in unique positions to diagnose, but may not know what they’re looking at when they see it.
Additionally, there is no cure and in many cases, treatment side effects further increase pain. Everyone is different– food triggers, diet and exercise, symptoms and severity– it all depends on the individual. And while some may be brought into remission with timely treatment, future flare ups are possible.
But there is hope. IPPF is fighting for research around the conditions, in addition to providing support and information for anyone affected by pemphigus and pemphigoid.
I am witnessing that hard work myself at Rare Disease Week at Capitol Hill in Washington, DC. They’re working hard for not just the IPPF community, but all of the rare community by joining together in securing funding for the NIH and other relevant organizations that help provide treatment and eventually cures for these neglected diseases.