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For a full year, Rochell Magliocco thought she had lupus. Her doctor diagnosed her after she developed ulcers in her mouth. Then another doctor told her that she didn’t have lupus—she had multiple sclerosis. But that diagnosis wasn’t right either. After two years and more than 30 doctors, in 2014 she finally got a proper diagnosis—Behçet’s Disease.

For patients with Behçet’s Disease, this story is all too common. The disease is rare, affecting approximately 5.2 per 100,000 people in the United States, so few doctors are familiar with identifying it. There is no formal diagnostic test, and every patient’s experience is different.

“Most commonly, people see four or five physicians before they are even considering Behçet’s,” said Dr. Yusuf Yazici, M.D., clinical associate professor, Department of Medicine, New York University.

One of the main issues is a dearth of adequate resources for both doctors and patients to better understand this mystifying disease. In honor of this year’s Behçet’s Awareness Day on May 20, patients, physicians who specialize in Behcet’s Disease and advocates are on a mission to provide other doctors and patients with more information to help improve the lives of people living with this disease.

“Behcet’s is not a hopeless condition. And I think there are a lot of reasons for patients to have hope,” said Dr. Kenneth Calamia, M.D., Consultant, Rheumatology, Mayo Clinic Florida and Professor of medicine, Mayo Clinic School of Medicine and Science.

To learn more about Behçet’s Disease, visit the Behçet’s Connection website.

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.
 

Rochell Magliocco

BEHCET’S DISEASE HAS IMPACTED THE EMOTIONAL AND SOCIAL LIVES OF PATIENTS SUCH AS ROCHELL MAGLIOCCO.

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.
 

Ashley Pelletier

ASHLEY PELLETIER SAW 30 TO 40 DOCTORS BEFORE BEING DIAGNOSED WITH BEHCET’S DISEASE.

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.”

Most people have never heard of Behçet’s disease a painful, chronic condition that causes sores in the mouth and elsewhere on the body. Since only 16,000 to 20,000 people in the United States are affected by this condition, that’s hardly surprising. But for those suffering in silence, it’s important to know that, while there is no cure, diagnosis and treatment can help manage symptoms.

The diagnosis is based on the combination of clinical findings, and most doctor may not be very familiar with the condition and its symptoms as it is so uncommon in the United States many patients face significant delays in getting properly diagnosed and treated. One study suggested an average of nearly three years to diagnosis for patients with Behçet’s disease.

Knowing the signs and symptoms is essential to managing the disease. As part of this year’s Behçet’s Disease Awareness Day (May 20), we’re highlighting the five most common signs and symptoms that may develop as the disease progresses, with the hope that more patients can take control of their condition by talking to their doctor and getting treated as soon as possible.

Mouth Sores

Mouth sores are often the first sign of Behçet’s and occur in almost everyone with the disease. These painful ulcers, which can appear anywhere in the mouth, including the lips, tongue and cheek lining, look like common canker sores but can be far more abundant. Patients have reported dealing with multiple mouth ulcers at a time. Not surprisingly, they can make eating, drinking and even speaking difficult. These sores usually heal within a week or two without scarring but often return.

Genital Sores

Appearing in about 75 percent of people with Behçet’s disease, genital sores can occur almost anywhere in the groin area. These painful ulcers tend to be larger and deeper than mouth sores and, as a result, can lead to scarring. These sores will typically heal within two to four weeks but recur. While genital sores are not contagious, they can make sexual intercourse painful. Doctors can misdiagnose genital sores associated with Behçet’s disease as herpes.

Skin Sores

Between 60 and 90 percent of people with Behçet’s disease experience skin lesions beyond the mouth and genital areas. These lesions can manifest anywhere on the body as painful acne-like bumps or on the legs, arms, face and neck as red, tender nodules called erythema nodosum. These lesions typically heal within two to three weeks but, like mouth and genital ulcers, frequently return.

Eye Inflammation

More than half of people with Behçet’s disease experience a condition called uveitis, an inflammation of the eye that can result in pain, redness, blurry vision and increased sensitivity to light. Eye inflammation due to Behçet’s happens more commonly in younger people and men. While eye inflammation can be the first sign of Behçet’s in some patients, it may not appear until years later for others. If left untreated, repeated recurrences can lead to vision loss or blindness.

Joint Pain and Swelling

Joint diseases such as arthritis and spondylitis affect 50 percent of patients with Behçet’s disease, resulting in pain, swelling and stiffness in the knees, ankles, wrists and elbows. Spondylitis can cause pain in the low back or buttock. Joint pain and swelling can make it difficult to move and perform everyday tasks. Although bouts of joint pain and swelling typically last about days to weeks, as with most of the common symptoms of Behçet’s, it often recurs. Permanent joint damage, however, is rare.

Beyond these five most common symptoms, Behçet’s disease can affect the brain and spinal cord, gastrointestinal tract, large blood vessels, heart, lungs and kidneys. If you have Behçet’s and are experiencing a flare up of either a recurring or new symptom, consult with your doctor.

To learn more about the need for new treatment options for Behçet’s disease, read “Behçet’s Disease: The Key to a Breakthrough Is Medical Innovation.”

 

By the time Richard West was diagnosed with the rare inflammatory disease known as Behçet’s in 1995, he had painful infected leg ulcers, genital ulcers and constant headaches.

By the time Richard West was diagnosed with the rare inflammatory disease known as Behçet’s in 1995, he had painful infected leg ulcers, genital ulcers and constant headaches.

By the time Richard West was diagnosed with the rare inflammatory disease known as Behçet’s in 1995, he had painful infected leg ulcers, genital ulcers and constant headaches; joint pain prevented him from taking his children swimming on Sunday mornings; mouth ulcers limited his diet to soup, ice cream and mashed bananas.

A diagnosis was welcome, but it did not mean his struggle with symptoms would end.

“I saw so many different doctors, and each would prescribe different things,” West said. “Most doctors have never seen this illness and aren’t familiar with what medications they should or could give you.”

West’s story is not unique. A chronic disease involving inflammation of blood vessels, Behçet’s is so rare and mysterious that there is no standard of care Tweet: #Behçet’s disease: A #RareDisease involving inflammation of blood vessels with no standard of care. Read more: http://bit.ly/1yGWk5p .

That’s understandable. After all, it’s difficult to identify a standard when nothing seems to work very well, as suggested by a recent study published in Clinical Rheumatology. The researchers analyzed medical records of over 250 patients with Behçet’s over an average of four years and found that patients had symptoms in more than 67 percent of doctor visits — meaning remission is hard to come by Tweet: Complete remission of #Behçet’s disease is difficult with the current treatments. Learn more: http://bit.ly/1yGWk5p.

Complete Remission of Behcet's Disease Is Difficult Today

While the symptoms of Behçet’s can be quite different with each patient, the most common include ulcers affecting the mouth and genitals, skin sores, inflammation of the eye and arthritis. Because the symptoms are often so painful, the lack of effective treatments can have a devastating effect on patients.

 

“Over the course of a five-year period, I couldn’t work, so my wife had to go back to work, and it caused a tremendous strain in our relationship,” West said. “We lost our house and our life savings. Our marriage disintegrated.”

Despite the impact on patients’ lives, little is known about the disease. “It hasn’t received the same degree of interest because of the tiny number of patients,” Chris Phillips, director of Behçet’s International, said.

Fewer than 8 out of every 100,000 people in North America and Western Europe are diagnosed with Behçet’s disease. In Asia and North Africa, that number rises significantly, to about 420. As such, Behçet’s is often referred to as Silk Road disease.

Researchers believe that both genetic and environmental factors contribute to the disease, but they have not pinpointed exact causes.

“We would like to know what the source of the inflammation is,” Phillips said. “Until then, we don’t know how to turn it off. And that seems to be a long way off.” And with few patients to participate in clinical studies, finding solutions becomes even more challenging.

Behcet's Disease SidebarIn the meantime, doctors have focused on treating symptoms with creams and gels applied to the sores to relieve pain, and oral or injectable medicines to reduce inflammation. Immunosuppressive therapies such as TNF inhibitors can help alleviate mouth ulcers in some patients, but they often stop working and can have been linked in some cases to side effects such as serious infections and an increased risk of cancer.

For West, finding the right combination of therapies to reduce his symptoms was a trial-and-error process. Eventually, his doctors found a medication that helped relieve his leg ulcers, but not his headaches. His neurologist had to prescribe another therapy for that.

“Finding something that would get rid of all the symptoms would be brilliant,” West said.

To that end, researchers are looking for therapies that better address the underlying problem. This search has led some to look at therapies that tweak the immune system rather than shutting it down broadly as immunosuppressive therapies do. So far, clinical trials have been promising, and more results are on the way.

For his part, West remains optimistic despite his years of struggles. In 2012, three clinicians and the Behçet’s Syndrome Society received £20 million in National Health System funding to establish three Specialist Multidisciplinary Centers for Behçet’s in England. “They have been running now for nearly three years and are transforming the care of English patients with the disease,” he said. “I’m quite hopeful that things will continue to progress.”

When a patient goes to the ER, the last thing she wants to know is that her doctors have to Google her disease or ask her to explain the disease to them while she is feeling sick. But this is the unfortunate reality for Behçet’s patients, like Karen Gunter, who often know more about the disease than do their health care providers. Gunter, also medical liaison for the American Behçet’s Disease Association (ABDA), shares her concerns about the state of awareness of, and treatments for, this debilitating disease.

How did you learn you had Behçet’s disease?

In 2005, I wound up in the ICU with aseptic meningitis, which basically means I had inflammation in the brain. But they couldn’t find the cause. I was in and out of the hospital several times from 2005 to 2011. I was a manager of an outpatient dialysis unit in a hospital and didn’t have time to follow up on my health properly, which looking back could have led to an earlier diagnosis and treatment.

In 2011, I was back in the ICU, knocking on death’s door. After that, I wasn’t the same physically and cognitively, which finally made me realize that I needed to figure out what was wrong. Luckily for me, I found a doctor who knew it was Behçet’s disease right away because I provided him with a detailed history of symptoms that I experienced over the years. I didn’t believe him at first because I had never heard of the disease even though I had worked in the health care field for almost 20 years.

Have you found an effective Behçet’s treatment?

It’s frustrating. Behçet’s affects your daily living so badly you just want to find anything that works.

There’s really no particular medicine for Behçet’s disease. Doctors use medications off-label. When one doesn’t work, you try another.

It’s frustrating. Behçet’s affects your daily living so badly you just want to find anything that works. You know the medication is not for Behçet’s, but you’re still hoping it’ll work and are almost prepared to try anything. My doctor prescribed heavy doses of some drugs, but they didn’t work, caused allergic reactions or made me too ill to continue using them. They even put me on chemotherapy. For the seven months that I was on chemo, I was relatively stable and stayed out of the hospital, which was such a relief after being so sick for so long.

Seven months is a long time. How was the transition when you stopped?

It was bittersweet coming off chemotherapy. Even though I had begun losing some of my hair and experiencing side effects, I wanted to stay on chemotherapy because it helped me so much. Now I’m on another medication, which worked at first, but now I’m getting more frequent and severe flares. It’s back to the drawing board.

Since then you’ve accepted the volunteer position of the medical liaison on the ABDA executive board. In this role, have you found Behçet’s to be a particular financial burden on the health care system and on patients?

We’re going from one drug to another, seeing doctors left and right. So not having effective treatment options for Behçet’s disease is definitely driving up costs in health care. The lack of knowledge on how to exactly treat the disease is also increasing doctor visits, hospitalizations and testing. Unlike short-term illnesses, chronic diseases, especially ones that do not have true treatments, will crush health care financially.

When I go to the ER and tell them that I’m having a Behçet’s flare, they have to Google “Behçet’s.” That’s just the way it is right now.

For patients, in addition to facing high medical bills, many lose workdays due to the numerous appointments, hospitalizations, testing or flares that make it impossible for them to leave the house. Many patients find themselves losing jobs because of these absences, looking for less-demanding or lower-paying jobs because of their limitations or applying for disability. This affects not only the patient but also the patient’s family and environment. I cannot describe the incredible loss a patient feels throughout their journey with Behçet’s. They navigate through the stages of grief, not only from the illness itself but also from the physical, emotional and financial strains.

What has been one of the biggest challenges of Behçet’s? 

In addition to the frustration of a lack of treatment options, many Behçet’s patients experience joint pain. Right now, the knuckles on my right hand and my right knee are swollen. I can’t tell you how painful that is. My doctors prescribed pain medication, but restrictions on access to narcotics have made those hard to get. Two weeks ago, I had a horrible flare and went to seven different pharmacies to fill my prescription. I was crying for the pharmacists to help. Behçet’s patients shouldn’t have to beg to get pain medicine.

Is awareness of Behçet’s increasing in the medical community? 

Attending the International Conference on Behçet’s Disease in Paris last year, I was disappointed. While there was obvious enthusiasm, commitment and hard work being done, we’re not making the strides that we need to make. There’s not enough information out there yet, especially in the United States. We’re advocating in Washington for more research and trying to get more knowledge out there. But when I go to the ER and tell them that I’m having a Behçet’s flare, they have to Google “Behçet’s.” That’s just the way it is right now.

Are you hopeful that there will be more treatments for Behçet’s disease in the future?

People in the community are grateful that companies are taking the time to recognize Behçet’s and trying to do something. It’s the only way for us to move forward with this disabling disease.

As more physicians become knowledgeable and more people are diagnosed, the treatments will hopefully come. We all must unite as a community, as a family, and demand more ethical research for the treatment of Behçet’s disease.