Rare is Good, Until it's Your Disease

By Lisa, Mucous membrane pemphigoid, United States, March 16, 2021

Rare. Like one-in-a-million rare.

When you’re talking about winning a mega-lottery, one-in-a-million feels winnable. But then again, when you’re talking about a lot of millions in exchange for a two-dollar ticket, it always feels winnable.

Applying these odds to diseases and medical conditions makes it feel less winnable.

Consider that there are about 300 million people in the US. Some 1-in-3 people will be diagnosed with some version of cancer in their lifetime. Nearly 1-in-2 of American adults have heart disease. About 13 percent of adults have diabetes.

One-in-a-million narrows down the players in the game. When it comes to research, specialists and medicine, the tiny number of people who have my rare disease makes it hard to justify even knowing its name.

Mucous Membrane Pemphigoid.

It could not sound any worse, but believe me, the name is just the start of its horror.

My rare journey started like any other day. I had planned an ambitious morning. I was starting my day by doing back-to-back spinning classes at two different studios. Before the second class, I choked down some overnight grains for energy and as I was eating, I noticed the gums in the front of my mouth were swollen. I looked in the mirror and it appeared I had a blood blister. I wanted to pop it — to drain it and make it go away — but it was solid. I went about my business and when I got home later that day, I called my dentist.

Unfortunately, the blister I noticed, and others I didn’t, decided to pop on their own. In the following days, my toothbrushing involved spitting out a decent amount of blood. Little did I know, this bloody brushing would continue for seven months, causing me to lose weight and become anemic.

My dentist examined my mouth days later, took an x-ray and deduced that I had a root in distress. It was possibly infected and would need a root canal. I was referred to an endodontist.

The endodontist examined and tested my teeth. All were alive and well, so no root canal was necessary, but the mystery continued. A visit with an oral surgeon was the next step on this long-and-twisty road.

The oral surgeon examined me and suggested it could be one of three things: lichen planus, a rare auto-immune thing or cancer. The determiner would be a tissue biopsy, which, the oral surgeon explained, involved taking tissue from the blistered area as well as the healthy area.

At that point, my mouth was a disaster. I was eating only soft, bland things so I wouldn’t irritate my blisters and recovering lesions. When I ran my tongue around my gums for a check each morning, it felt overwhelmingly spongey to the touch, not firm and smooth like normal, healthy gums. There were so few smooth patches; I wondered where this oral surgeon would find enough tissue to biopsy.

Somehow, he was able to and I left his office shaking with a mouth full of gauze. None of the options he laid out were potentially ok. In fact, it was bad, badder and baddest. I put this all out of my mind. Why worry about three things now when I don’t have all the information?

Knowing why my gums were blistering and bleeding was preferable to living with the unknown. But in this suspended state (some would call it denial), I could pretend all was fine, and would be.

My plan on results day, no matter what, was to walk the few blocks from the surgeon’s office to the East Village to pick up my all-time favorite pizza from Two Boots. In my early days in NYC, I lived a block from the pizza shop and its Cajun-influenced flavors stuck with me. Mouth pain be damned, I was getting my pizza.

The news was good and bad. Good, in that we knew what it was. Good, that it wasn’t cancer. The bad? It was Mucous Membrane Pemphigoid, a rare auto-immune disease.

Usually, when you’re diagnosed with a common disease, you’re given treatment and a prognosis. You know to take this, get that treatment and you’ll be better in this amount of time. Or you’re told to see a specialist who will make a plan.

None of this happens when you’re diagnosed with a disease this rare. As my parting gift, the oral surgeon prescribed a steroid mouth rinse to use in my mouth four times every day. In theory, this would get the lesions in my mouth under control and hold me over until I found a specialist.

As I walked the few blocks to pick up my pizza, I tried to sort out my thoughts. I was thrilled to have an answer (that didn’t involve a root canal) — something I could research, take a deep dive into and figure out how best to proceed. Still, I was not completely relieved. Four months in, with spongey, shredded, bloody gums, I was unsure where I was headed, other than to pick up and eat my pizza.

Writing this, it all sounds so easy — follow the doctors until you get a diagnosis — but it didn’t feel easy at the time. I was incredibly fortunate to be referred to an oral surgeon who knew what he was seeing. Many of my fellow sufferers go years without an accurate diagnosis because so few practitioners know my rare disease and how it presents.

As for a doctor to lead my treatment, it took me a year of research, outreach and wasted appointments to finally find one who specializes in MMP.

This is the problem with being rare — so few people know about it, so few dollars are designated for research and so little of medical schools’ curriculum is devoted to it.

There are 300 million people living with rare diseases worldwide. While that feels like a giant number, it’s not. Rare Disease Day is February 28. When someone tells you they have a rare disease, it’s worth it to listen and learn.

As for me, my journey continues. As chance would have it, my reward pizza after my biopsy results was the last real pizza I’ve eaten. Rare diseases sometimes call for drastic lifestyle changes and sadly, mine are dietary.

 

*Find others with Pemphigus and Pemhigoid on RareConnect, the online platform for people affected by rare diseases

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.

Stories Of The Week

My family My family

Xander's Journey finding a cure

Yohanna, SLC6A1, United States, March 1, 2021

My name is Yohanna. I have a 3-year-old name, Xander. He was born healthy, and everything was great until he reached six months. I noticed he was not getting his milestones, and of course, I was conce...

Mia Mia

Mia

Maja, 1p36 deletion syndrome, Croatia, February 28, 2021

My daughter Mia was born with congenital cytomegalovirus infection and from birt we new she will face a lot of obstacles in her life. We were told she will never walk, talk etc. But she was little war...

SuperBouli SuperBouli

Story of SuperBouli

BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021

SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRarehttps://youtu.be/Rw4hV_sk6VQHello!!! I am Bouli, and this year, on the 28th of February, the rare disease...

Photography credit: Oumayma B. Tanfous Photography credit: Oumayma B. Tanfous

Keep on Smiling

Maria, Beta-thalassemia, United States, February 25, 2021

Keep On Smiling“Keep on smiling” the young doctor said to me at an impressionable age of ten. Those words, at that time, influenced the rest of my life. I was born with a rare disease, Beta Thalassemi...

On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling. On my Instagram-account (@bibi_wheelchair_traveller) I raise awareness for the disease ALS, I share my thoughts on disease and disability and present our way of wheelchair-traveling.

"Juvenile ALS" occurs in less than 1 out of 1 million people

Bibi, Amyotrophic lateral sclerosis, Austria, February 24, 2021

Hi, I’m Bibi, 32 years old, from Austria (Europe) and was diagnosed with ALS (Amyotrophic Lateral Sclerosis) at the age of 18.My first symptoms started to show in 2005 when I was 16 years old. I notic...

Hagamos visible las enfermedades raras... Hagamos visible las enfermedades raras...

Nahiara... el amor en persona

Claudia, Williams syndrome, Argentina, February 24, 2021

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...

Palden and Mom Palden and Mom

The Glimpse into Palden's Journey as the First SMA Patient of Bhutan

Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021

Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA...

Laurenne in Wellington Laurenne in Wellington

You have what now?!

Laurenne, Panhypopituitarism, Hypogonadotropic hypogonadism, New Zealand, February 10, 2021

Hello to everyone reading this, my name is Laurenne, and I was born with congenital Panhypopituitarism (CPHP), and Hypogonadotropic hypogonadism (HH)It briefly means that all the hormones that a funct...

Yasmin ElSamra & mama hanaa elsadat Yasmin ElSamra & mama hanaa elsadat

Yasmin ElSamra left a legacy

Yasmin ElSamra, Epidermolysis bullosa dystrophica, Egypt, February 6, 2021

Epidermolysis  Bullosa (EB) is a genetic condition that causes the skin to be fragile, blistering easily. Blisters and skin erosions form in response to minor injuries or frictions. Mutations in the C...

X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.