Mirta Santos, MD, executive director of the American Behçet Disease Association.
Behçet disease is a rare, multiorgan systemic disorder that significantly impacts patient quality of life.1 Patients can feel isolated, overwhelmed, frightened, and even neglected by a health care system that knows very little about this rare disease. “It can take up to 5 years and several doctors for a patient to receive the correct diagnosis,” said Mirta Santos, MD, executive director of the American Behçet Disease Association (ABDA), in an interview.
The ABDA is dedicated to supporting patients with Behçet disease and their families and caregivers. “We strive to help anyone whose life has been touched by this disease,” she said.
Belinda Rivas, treasurer of the American Behçet Disease Association.
Dr Santos is one of five board members of the ABDA. The ABDA board, staff, and volunteers work tirelessly to advocate for research and funding while simultaneously offering support to patients living with this rare disease. In an interview, Dr Santos and Belinda Rivas, treasurer of ABDA, discussed the advocacy efforts of the ABDA, as well as the difficulty patients have with getting a diagnosis and managing their disease.
The organization was founded in 1978 by Sheila Gregory, the mother of a young patient with Behçet disease. Since then, the ABDA has further developed its mission to support, educate, and advocate for patients with Behçet disease. Their advocacy efforts focus on funding, research, and patient-related legislation, such as fighting step therapy, which is a policy meant to cut costs but can force patients with longstanding disease to start over with the cheaper but less effective drug as opposed to the more costly but effective option.
While this multiorgan disease is very difficult on patients, it helps ABDA partner with multiple organizations. “The most important part is to advocate not only for ourselves, but for rare diseases in general,” said Dr Santos. At least once a month, prior to the pandemic, members of the ABDA traveled to Washington, DC, in partnership with various organizations. They work with the National Organization for Rare Diseases (NORD), National Institutes of Health and several of its centers (eg, the National Institute of Arthritis and Musculoskeletal and Skin Diseases), the Craniofacial Institute, the Neurological Institute, and the American Association of Dental Research. “We are very active through these coalitions,” explained Dr Santos.
Currently, the ABDA is working with the American Association of Dental Research on new studies related to dental problems experienced by patients with Behçet disease. One of the most detrimental aspects of Behçet disease is the limited amount of research, from pathogenesis to treatments. “Without research there will never be any advances in treatments or new programs to help patients,” said Dr Santos.
In addition, the ABDA attends and has booths at conferences to discuss the disease with physicians. “We talk to different doctors about the different symptoms of Behçet disease,” said Ms Rivas, who was diagnosed with this disease in 1990. “A lot of them are very interested and like to talk to me, especially when they have questions specifically about a patient,” she added.
Normally, the ABDA hosts multiple live events and a fundraiser in May to amplify Behçet Disease Awareness month. This year, because of the COVID-19 pandemic, the ABDA held these events virtually. Throughout the month, members participated in a variety of activities available on the virtual calendar, including a virtual walk-a-thon, webinars, and patient education programs.
With the help of Amgen, members in the community could create an infographic that showed both how the disease impacted their lives and what they have learned from living with it. They could also submit their artwork to be posted on the ABDA website and Facebook page, as well as share tips for how they manage their disease. In addition, members were able to share their stories and ask questions on the Behçet syndrome forum, available on RareConnect.com, a platform dedicated to patients with rare diseases and their family members.
“It is a very strong and faithful community that is very engaged in our events,” said Dr Santos.
The ABDA also released a survey where patients with Behçet disease answered questions about how the COVID-19 pandemic has impacted them. Thus far, they have 61 submissions. The organization plans to compile the data and submit an abstract to the American College of Rheumatology meeting.
Along with their patient advocacy efforts, the ABDA provides resources for patient education and support, including a Behçet disease hotline. Their Facebook page and forums allow members to ask questions and share tips with each other, and also helps the organization connect newly diagnosed patients with members who have lived with the disease for many years. Members can access webinars, surveys, and information about clinical trials, as well as resources related to COVID-19 on the website. Also, in partnership with Rare Across the Country, the ABDA encourages members to contact their local legislators to help advocate for funding and support.
In addition, the ABDA provides free brochures to patients that they can give to their physicians who may not be familiar with Behçet disease. “The medical community is not highly educated about Behçet disease and patients have told us when they go to the emergency room with symptoms that the physician has to google Behçet or ask for the spelling,” said Dr Santos.
A mother of 2 children, Ms Rivas was diagnosed with uterine cancer by her gynecologist, and she underwent a hysterectomy. Immediately after her surgery, she developed vaginal ulcers the size of silver dollars, back pain, joint pain, oral ulcers, and other symptoms. A week later, she was hospitalized with seven blood clots in one of her legs.
Her gynecologist tried several treatments and ran multiple tests. “The whole initial diagnosis process was just so humiliating,” said Ms Rivas. She was married and had been faithful but underwent multiple sexually transmitted disease tests, despite having negative results on the first set of tests. After 8 months, her gynecologist referred her to a dermatologist who diagnosed her with Beçhet disease, and she became connected with a rheumatologist to treat her condition.
According to Ms Rivas, the first few years were the worst. At the time, medications available only treated the symptoms of the disease. “I have had a long journey with Behçet disease, and it has calmed down a lot since I got older, but I still have flares,” she said. Ms Rivas noted that she no longer has vaginal ulcers, and the ulcers in her mouth are not as large and painful. She has learned to live with the joint and back pain caused by Behçet disease.
“Most patients find it very difficult to do anything because they are sick,” Ms Rivas explained. Early in her disease, she struggled with committing to meetings or events because she never knew how she would feel or if her disease would flare from one day to the next. “There is hope though,” she added.
Importance of Coordinated Care
Due to the fact that Behçet disease affects multiple organ systems, including the brain and lungs, it can seem challenging to manage for patients and providers. “One minute you are fine, and the next you cannot breathe,” noted Ms Rivas. This is not only difficult for patients who struggle to live with debilitating symptoms, but also physicians who have to prescribe multiple medications to treat pain, ulcers, blood clots, and uveitis, among other symptoms.
In addition, Behçet disease can significantly impact other aspects of patients’ lives. They can develop depressive symptoms or experience sleep disturbances and insomnia. Patients with oral ulcers can also experience problems with swallowing and eating. Coordinated care is incredibly important for this patient population to ensure they are being provided holistic care that addresses all complications, including psychosocial complications, associated with this disease.
Electronic health records (EHRs) have helped improve communication between physicians treating the same patient with Behçet disease while also alleviating some of the burden from the patient. Since being diagnosed, Ms Rivas has developed close, personal relationships with all of her physicians. “It is a relationship you have to develop, and you have to advocate for yourself,” she said. Flares can be unpredictable and severe. Thus, having these connections helps patients get treatment right away. She takes photographs all of her symptoms, which she sends to her physicians so she can get help immediately. Over the course of her disease, she has been treated by a neurologist, urologist, dermatologist, dentist, and gynecologist.
Along with EHRs, apremilast was the first drug approved for oral manifestations of Behçet disease in 2019.2 While this is a significant advancement for patients with Behçet disease, there is still a long way to go in order to provide patients with systemic treatment that would alleviate multiple symptoms.
Behçet disease can mimic many other diseases and conditions, ranging from benign oral ulcers to serious chronic diseases. “Determining the right differential diagnosis is important from an advocacy perspective because it affects treatment and clinical outcomes,” said Dr Santos. For example, untreated uveitis associated with Behçet disease can cause blindness.
There has been some progress in terms of awareness of Behçet disease among the medical community. Within the past few years, the medical exam has included one question about Behçet disease. “This is a big step forward for us because at least physicians have seen the word in one place while they were being trained,” said Ms Rivas.
While a lot of breakthroughs have been made in the past few years, there is still more that needs to be done to help patients living with Behçet disease. The ABDA continues to help everyone who has been impacted by this disease—physicians, caregivers, and patients—in order to improve access to medications, bolster research, and offer support.
1. Senusi AA, Ola D, Mather J, Mather J, Fortune F. Behçet’s syndrome and health-related quality of life: influence of symptoms, lifestyle and employment status. Clin Exp Rheumatol. 2017;35 Suppl 108(6):43-50.
2. FDA approves Otelza (apremilast) for the treatment of oral ulcers associated with Behçet’s disease. News release. Celgene; July 19, 2019. Accessed July 14, 2020. https://ir.celgene.com/press-releases-archive/press-release-details/2019/FDA-Approves-OTEZLA-apremilast-for-the-Treatment-of-Oral-Ulcers-Associated-with-Behets-Disease/default.aspx