By Sydney Reed
It was Christmas Eve in 2010 when I was hospitalized and diagnosed with juvenile dermatomyositis (JDM), a rare autoimmune disease that affects approximately 5,000 children and adolescents in the United States. During my impromptu holiday sojourn, I remember tinsel hanging from the door of the hospital room and my mom sleeping on a cot beside me while I stayed up watching “Harry Potter and the Prisoner of Azkaban” on my laptop. After my release, I was referred to my first rheumatologist, who agreed with the diagnosis but insisted I get a muscle biopsy to support it, despite my obvious physical symptoms.
At the time, I didn’t understand why this evidence was necessary and how important it really was.
I couldn’t believe future doctors would actively try to disprove that I ever had JDM. Medicine in general seemed so much simpler then. A person gets sick and the doctor runs some tests which lead to a diagnosis and treatment… right? I had no idea how complicated things could be nor the barrage of delayed and misdiagnoses that awaited me in the years to come.
Multiple Complex Conditions
Like many autoimmune patients, while the physical symptoms I was presenting were classic in cases of JDM, the way my disease presented itself in my blood work was atypical. This is a problem I would confront multiple times over the next several years, and one I would come to realize can have disastrous consequences, resulting in significant delays in the diagnosis and treatment of serious illness.
Since my original diagnosis, I have developed overlapping and secondary conditions such as lupus, Sjögren’s syndrome and postural orthostatic tachycardia syndrome (POTS). This is another commonality among autoimmune diseases: they tend to come in packs.
Most recently, I was diagnosed with a small pituitary tumor. While the tumor itself is not cancerous, it is secreting an abnormal amount of adrenocorticotropic hormone (ACTH), which has resulted in Cushing’s disease, a serious condition that arises from an excess of cortisol in the body. On top of my other conditions, this led to debilitating symptoms that have had a massive impact on the progress I have made in the years since my first diagnosis. These symptoms would take away many of my basic abilities to function and take care of myself, and turned my life upside down all over again.
Here We Go Again
In May of 2018, after two of the best years of my life since my illness began, I suddenly started to experience a long list of new and concerning symptoms.
These included: absent periods, chronic diarrhea, loss of appetite, sudden weight gain, severe headaches, blood clots, dry skin, facial flushing and swelling, abnormal bruising, hair loss, dramatic muscle weakness and pain, and the most extreme fatigue I had yet to experience.
It took a year to find the 3 mm tumor that was the source of all these issues and another eight months after that to convince doctors this was the cause of my symptoms and begin looking at treatment options that could effectively cure my disease and restore my quality of life.
After a second MRI confirmed the existence of a 3 mm pituitary lesion, I was flooded with relief. I never thought I would be so happy to find out I had a tumor. After that, one of the amazing physician assistants at my primary doctor’s office referred me to a local neurosurgeon.
A week went by with no word from the surgeon’s office when I received a message from my primary care doctor explaining that the neurosurgeon had refused to see me and sent the referral back stating, “I don’t see any convincing evidence of a pituitary disorder here… could consider repeating scan in three to four years.” And with that, I was back at square one again, with no answers or relief for my progressively worsening symptoms and a waning degree of hope.
Unfortunately, this is just one example of many in which a doctor disregarded my symptoms and slighted everything I was experiencing. This one-step-forward, two-steps-back progression would continue for months. In total, l saw 13 doctors in my desperate search for answers and, eventually, treatment. Some of them were wonderful, compassionate and supportive. Others were apathetic, dismissive, condescending, and a waste of time and energy I really couldn’t afford.
In just under two years, I spent considerably more time and energy convincing doctors that something was wrong than I did on receiving treatment. Over and over I was told to be patient while I watched myself deteriorate, and as time passed it became increasingly difficult to maintain my resolve in the face of overconfident doctors. I questioned myself countless times throughout this ordeal. I felt ashamed for “doctor shopping” and worried my symptoms were psychosomatic. Thankfully, I haven’t let those moments of doubt and hesitation keep me from pushing forward. I know my body and I knew something was very wrong. I also understood that if I didn’t keep advocating for myself, things would only get worse, and I could lose years of my life and much of the independence and freedom I had worked so hard to achieve in the first place.
It Takes a Toll
While my situation is frustrating and unfortunate, there is a bigger issue at hand here. The fact is I am just one of an overwhelming number of cases in which patients experienced significant delays and misdiagnosis. According to a report on the global challenge of rare disease diagnosis, the average length of time from symptom onset to an accurate diagnosis for rare disease patients is around 4.8 years, during which time patients will see an average of 7.3 physicians before a diagnosis is made. In a 2013 article by Kaiser Health News, patients safety experts reported, “diagnoses that are missed, incorrect or delayed are believed to affect 10 to 20 percent of cases, far exceeding drug errors and surgery on the wrong patient or body part, both of which have received considerably more attention.”
Serious lifelong illness erodes the integrity between your body and your sense of self, but in my experience, receiving a diagnosis, regardless of the severity, is much easier to cope with than the process leading up to it. Going through this diagnostic process is not just exhausting: it’s traumatic. When your concerns are minimized, overlooked, or worse — when you’re told something is simply all in your head — it can cause an immeasurable amount of mental anguish.
Veronique Mead, a former family physician diagnosed with chronic fatigue syndrome (ME/CFS), summarized the factors that contribute to the psychological toll of a chronic illness, “There’s nothing like living with a disease to truly understand what it’s like — the death-like exhaustion that doesn’t improve with rest, the vulnerability, the fear that a symptom might be life-threatening, the sense that you might keep worsening until you actually die and no one will be able to help you, the side effects, the frustration and desperation when nothing works.”
In addition to the psychological toll, the lengthy fight to receive an accurate diagnosis and appropriate care can have tremendous (and sometimes irreversible) physical repercussions. Patient advocate Abbie Cornett writes in an article about doctor-delayed diagnoses, “While awaiting a correct diagnosis, patients frequently experience worsening symptoms, a decline in overall health and even death. These delays not only have physical health implications, but also cause mental health issues such as anxiety, stress, feelings of isolation, worry and depression. What’s worse, they can significantly lower patients’ quality of life compared with patients who have been correctly diagnosed and are receiving proper treatment.”
The Takeaway — for Doctors and Patients
Going through the process to reach an accurate diagnosis and subsequent treatment over and over again is demoralizing and has understandably left me feeling a little jaded. It undermines the trust that is the foundation of the doctor-patient relationship, but while my faith in the medical system has been shaken, as a chronically ill person, I have no choice but to rely on this system (and the people within it) if I want to survive. Literally.
To any doctors who may come across my story, I hope it encourages you to show the same amount of trust and respect to your patients as they bestow onto you. My health has been my full-time job for the better part of 10 years now. It’s what I eat, sleep and breathe. While I may not have a medical degree, I am an expert when it comes to my body and my illness, and this is true for the vast majority of patients I come in contact with these days. Please appreciate the experiences of the people that put their trust in you and do everything in your power to ensure their faith in you is not misplaced.
And to anyone else who is reading this and going through a similar struggle, I hope my experience is proof that you are not alone and encourages you to keep warring on.
In her book, “Surviving and Thriving With an Invisible Chronic Illness,” Ilana Jaqueline writes, “It is your body and your responsibility to treat it with confidence, intelligence and above all, compassion… if you want the most out of life with chronic illness, you’re going to have to fight for it.” I couldn’t agree more with her sentiment. As much as I loathe this diagnostic process with every fiber of my being, the truth is every time I go through it, I get better at it. I get smarter, and stronger, and all the things that are necessary to become the ass-kicking tour de force my life depends on me to be. I’m choosing to fight with everything I have for my place here, for my quality of life, and for all the things I’ve ever wanted for my life and my future.
I hope you will too.