The day I was given my diagnosis was a gray November day in Massachusetts. Boston’s famous fiery Fall colors were nearly finished. Making my way inside, I remember rustling browning leaves swirling about in the parking lot and the sound they made crunching underfoot. I can hear the swish of the automatic doors as I entered the large airy reception area and can still smell the sanitized smell as I made my way up to the counter to check in.
This appointment was the culmination of a long medical journey. For years, I had dealt with persistent fatigue, brain fog, skin lesions, body aches, dizziness, numbness, and unexplained fevers. At times, excruciating ulcers in my mouth and throat made eating or drinking nearly impossible. I spent weeks at time in bed, too exhausted even to sit up. As these symptoms worsened, I sought medical care.
From 2018 to 2023, I saw dozens of specialists—neurologists, dermatologists, otolaryngologists, psychiatrists, dieticians, and nutritionists—searching for answers. I tried numerous medications for the various symptoms, some with dire side effects. My life seemed to narrow to waiting rooms and pharmacy lines. Eventually, my symptoms forced me to drop out of graduate school. Appointment fees and medication costs erased my savings and made my financial situation extremely precarious. I was afraid of losing my job because of missing so much time for appointments and recurrent illness.
Many of the doctors appointments had felt like trials. The cold, clinical rooms were courtrooms, the exam table covered in its crinkly white paper, my witness stand. Before I could fully explain my symptoms, the unspoken verdicts—‘hypochondriac’ or ‘liar’—had already been written in the clinician’s gaze.
There were many moments when it all became too overwhelming. Once, after being interrupted and curtly dismissed by my doctor, I broke down in the examination room when he left. Hearing me, several junior doctors came into the room. I pleaded with them, “Something clearly is happening to my body. Someone, please help me…”
One of them leaned in and said quietly to me, “I shouldn’t be telling you this, but Dr. — has no idea what to do with your case. He is being unkind to you because he hasn’t seen anything like your symptoms before.”
Diagnosis:
So, this gray November morning, I had low expectations for this visit. Though I had fought to see this rheumatologist—spending hours waiting on hospital phone lines and getting scores of blood and genetic tests done in advance—I fully expected to be dismissed again.
But today was different. This doctor was kind and calm and listened to my list of symptoms without interruption. I could see how seriously she was taking my case. When I finished, she began asking questions. “Have you ever…? When did… start? Do you experience…?” I could see the wheels turning in her head. After listening carefully to my responses and reviewing my file, she turned to me and said the words that have changed my life:
“It is most likely that you have something called Behçet’s Disease.”
Behçet’s Disease:
Behçet’s disease is a rare, chronic autoimmune disorder that causes inflammation in blood vessels throughout the body. It commonly presents with symptoms such as painful ulcers, eye inflammation (uveitis), and skin lesions, but it can also affect joints, the nervous system, and major organs. Its most serious manifestations can result in blindness, stroke, or even death. The exact cause is unknown, but it’s believed to involve abnormal immune responses, possibly brought about by genetic and environmental factors.
Though exact figures are difficult to determine because of misdiagnosis and regional differences, Behçet’s Disease affects approximately 1 in 100,000 people worldwide.
Life Now:
So now, a little over a year from receiving a diagnosis, I am a Masters student here at Trinity studying International Peace Studies. I am married to a wonderful man from Newbridge, Co. Kildare who I met while living in Boston.
Since moving to Ireland, I have been lucky to receive wonderful medical care from the Rheumatology Department at The Mater Misericordiae Hospital here in Dublin.
I agonized over my capacity to return to school and finish my graduate studies. However, I decided that I wasn’t going to let my illness prevent me from pursuing my goals. Though medication helps moderate some of the symptoms, there currently is no cure for Behçet’s Disease. Some days are very hard and I continue to navigate the unpredictable nature of the condition. I am particularly afraid of losing my sight. On days where that fear overwhelms me, I turn to meditation or exercise to find calm.
Accepting the need for help and extra time on assignments has been a challenge, but I’ve worked hard to untangle my self-worth from productivity. On difficult days, I remind myself that simply making it through is enough.
Since starting my degree, Trinity has been very supportive. The disAbility Service has been a wonderful resource and the options they provide, including on-campus respite rooms and deadline flexibility, have been instrumental in allowing me to still function academically. My professors and friends in my program have been a wonderful support. Music is also a comfort and I joined the Trinity College Singers in September.
Rare Disease Awareness:
I wanted to share my story because there is a dire need for Rare Disease Awareness. When I was first diagnosed, reading the stories of others helped me understand that I wasn’t alone. Others were managing rare conditions, as well.
Over 300 million people live with a rare disease worldwide. Around 6,000 different Rare Diseases have been identified, affecting 3.5% – 5.9% of the global population. Some estimates say there could be as many as 280,000 people living with these conditions in Ireland.
Living with a Rare Disease is a unique challenge. It often means navigating a medical maze of misdiagnoses, skepticism, and a lack of clear treatment options. Because of the small number of patients affected by each condition, attracting research funds for Rare Diseases is exceedingly difficult. The invisible nature of many of these conditions can make it difficult for others to understand how life-altering they can be.
Rare diseases don’t just affect the body—they alter relationships, careers, and mental well-being. Their unique challenges, variable and ever-changing, often leave patients with a sense of profound isolation.
Now, having been to several Behçet’s conferences and spoken to others with the condition, I know there is clearly an urgent need within medicine for adjustment. Healthcare needs to be more inclusive of difference and more patient-centered. Every patient should be listened to. No one suffering should ever face the silencing or skepticism that so many of us with rare conditions have.
I assure you, we can put into words—better than anyone else—what we are experiencing in our own bodies. Our symptoms are real and we deserve to be heard.
A little kindness:
I remember hospital staff were putting up a Christmas tree in the lobby when I called my husband to tell him the news. I was shaking and unsteady on my feet, but I was able to tell him how kind my doctor had been. She had been so gentle and reassuring and said, “I can only imagine how much you’ve been through to get to this appointment today. Now, you know what’s been happening all these years. Its not going to be easy, but you can move on from everything that has happened in the past. It all starts over now.”
Her kindness and consideration changed my life. She listened to me. She believed me.
Rare Disease Day is observed on the last day of February each year.
