Like many people living with a rare disease, people with Behçet’s Disease often experience a delay in their diagnosis and have few treatment options for their recurrent physical symptoms such as oral ulcers, inflammation and skin lesions. This chronic, multi-system inflammatory disease affects just approximately 16,000 to 20,000 people in the United States, and no diagnostic test or cure has been developed yet.
But receiving an accurate and timely diagnosis is just the tip of the iceberg. These patients may also face emotional and social challenges associated with their rare chronic disease. Their time can be consumed by doctor’s appointments, treatment regimens and dealing with fatigue, according to patients.
As we recognize the theme of this year’s Rare Disease Day, “bridging health and social care,” two women—Ashley Pelletier and Rochell Magliocco—discuss how they cope with the emotional and social struggles of living with Behçet’s Disease.
When were you diagnosed with Behçet’s Disease, and what were some of your symptoms?
Ashley Pelletier: I started experiencing genital ulcers in 2016 when I was 19 and then developed oral ulcers and skin rashes. My OB-GYN thought it was herpes, but the test was negative. They didn’t know any other disease that caused such ulcers, so they treated me for herpes. I also had extreme fatigue, arthritis, migraines and some gastrointestinal issues, including nausea and vomiting. Eventually, a rheumatologist gave me a tentative diagnosis of Behçet’s, but he himself had never seen it before. In the next few years, doctors would sometimes diagnose me with something else, like fibromyalgia, or tell me that it was just in my head.
Rochell Magliocco: I was diagnosed in 2014 at age 34, but my first symptoms—ulcers in my mouth—went back to when I was a little girl. They progressed to genital ulcers, then nodules on my lower limbs, which is related to vasculitis (inflammation of the blood vessels). I have a history of blood clots in my lower legs. In 2015, I was diagnosed with meningitis, with brain and spinal cord swelling and lesions. I received treatment for this newly diagnosed infection while I was trying to control my Behçet’s symptoms. I was paralyzed from the waist down for three months. My left leg function returned, but not fully. I can’t bend my right hip or knee and I now walk with a cane.
I’ve lost friends because I’ve had to cancel plans last minute or leave early because I was sick.
How does Behçet’s affect your daily activities, including your work and social life?
Ashley Pelletier: Behçet’s is unpredictable, so it’s hard to plan ahead. I don’t know what symptoms I may face each day. I don’t have control. Even doing laundry, showering, getting dressed or making a meal can be challenging. It’s inconvenient for my family and friends. I let people down. I’ve lost friends because I’ve had to cancel plans last minute or leave early because I was sick. I used to be athletic, running races and kickboxing. I had to give up those activities. I loved soaking in the sun at the beach, but now I get severe skin lesions no matter how much sunblock I use.
Rochell Magliocco: I work part-time as an optician. I’m on my feet all day, and by the end of the day, I’m exhausted. We have a beach house. It’s hard to get out to the beach, but I still do it. I’m slower at doing things like walking on soccer fields for my son’s games. I try not to let it affect my life, but I am slower than I used to be.
How has your disease affected your family and friends?
Ashley Pelletier: I feel lonely, anxious, depressed and scared sometimes. But I have friends and family who don’t judge me and help me with medical appointments and at home. It’s comforting. My disease has shaped the way my family looks at chronic illness. My mom and I had to explain to my brothers why I was sick so often and had so many doctor’s appointments. It’s taught us that some people may be sick even if we can’t see it. Just because someone looks fine on the outside doesn’t mean they’re fine on the inside.
How important is communication between your doctors in your care?
Ashley Pelletier: I saw 30 to 40 doctors before a Behçet’s specialist diagnosed me two years after my first symptoms. I saw a vasculitis specialist, dermatologist, neurologist, gastroenterologist and others. I got bounced around. No one understood my case because Behçet’s is so rare. Doctors took me off treatments prescribed by other doctors without giving it time to see if it was helping. If they had worked together, we might have found an effective treatment earlier. Now I have a Behçet’s specialist who is finding doctors close to me, and they coordinate my care together.
Rochell Magliocco: My doctors are all in the same health system, so they can access all my medical records and lab results and view my other appointments. They’re great about coordinating care. I hadn’t seen a specialist until a year ago when a newly trained neurologist who treated Behçet’s joined a nearby medical system. He agreed with the treatment I had been receiving.
Do you have tips for people who have been newly diagnosed with a rare disease?
Ashley Pelletier: You should try to be really organized about coordinating your care and tracking all your medical documents. It can be really time-consuming. My mom and I spend more than half our time going to appointments, traveling for care or coordinating care. I invested in a big planner that keeps all my medical records together. I like to use my phone to organize reminders and sign up for patient portals.
Rochell Magliocco: Be your own advocate. Join groups on social media. I’ve met so many different people and learned from what they are doing to help manage their rare diseases.
To learn more about this rare, chronic inflammatory disease, read “Understanding the Common Symptoms of Behçet’s Disease.”