A guest article by Elizabeth Lando-King, member of the Minnesota Rare Disease Advisory Council.
As we approach Rare Disease Day, I have been thinking about my own journey as a rare disease patient. I was 32 years old when I was diagnosed with Ehlers Danlos Syndrome (EDS), a genetic connective tissue disorder. Within a few years I was diagnosed with another rare disease, Mast Cell Activation Syndrome (MCAS), which looks a lot like allergies but changes all the time without clear (or predictable) triggers.
I am working to find my voice both as a patient and an advocate for people with rare diseases, invisible illnesses, and disabilities. Recently, I had the opportunity to speak with a group of physicians about my experiences, including misdiagnosis, missed diagnoses and dismissals I faced while searching for answers to a lifetime of unexplained illnesses, injuries, and debilitating pain.
I shared three key messages for health care providers—messages that are important for everyone, especially when interacting with people who have rare diseases. First, the interactions between healthcare providers and patients are important, and the words they use can have a lasting impact. Validating a patient’s experience can be life-changing. Second, it is ok for providers not to have an immediate answer, but it is not ok to dismiss symptoms simply because they are unusual. Lastly, physical and mental health are deeply intertwined.
These messages are important to me because much of my childhood and young adulthood involved frequent interactions with the medical system. Years of being dismissed left me questioning myself—scrutinizing every feeling, symptom, and emotion until I could no longer determine what was real and what was fake.
There is a belief that interactions with the medical system—doctor’s appointments, emergency room visits, physical therapy, and more—are benign. For patients like me, that couldn’t be further from the truth. When the trusted professional dismisses your symptoms or implies that what you are feeling is “all in your head,” these visits can be traumatic, leaving physical and emotional scars.
I was diagnosed with EDS 10 years after experiencing severe and rapidly worsening pelvic prolapse with no clear cause. My gynecologist was considered using transvaginal mesh to fix the prolapse but sent me to a geneticist to rule out conditions that might affect the surgery’s outcome. The geneticist told me it wasn’t clear if I had EDS because there was no lab test to prove it. She told me a diagnosis wouldn’t help me. There was no cure, and a diagnosis may count as a pre-existing condition, affecting my ability to get future insurance coverage.
I strongly disagree with her conclusions. I was later diagnosed with EDS based on clinical criteria and medical history. That diagnosis enabled me to receive appropriate treatment, including physical therapy and access to specialists. Beyond treatment, the diagnosis validated my experiences and gave me the knowledge to predict, prepare, and protect myself.
My gynecologist placed the transvaginal mesh, and she thought that would be the end of my issues. I believed this too. However, almost everything that could go wrong did. I endured more surgeries, major revisions, and attempts at mesh removal.
Patients with rare diseases, by definition, have conditions that are uncommon and often difficult to recognize. rare experiences, diseases and illnesses that may be difficult to recognize and may not appear in medical texts, which makes us harder to diagnose. One of the most harmful things a healthcare provider can say is that a patient’s symptoms are “impossible.” I have heard this more than once. The most memorable instance was when I began having vaginal pain after years of complications with mesh. A urogynecologist insisted my pain could not be caused by the mesh and was instead muscular, even though my symptoms did not fit that diagnosis. When I requested a second opinion, my request was denied.
I spent two years going to appointments, enduring increasing pain, and eventually traveling across the country before finally finding a specialist in Arizona who could help. Surgery revealed the mesh had embedded in my pubic bone and had to be chiseled out. I don’t know how I found the courage to keep searching for a diagnosis. Every step of the way, I asked myself: “Is this real? What are the chances that I am making this pain up?”
What are the chances of vaginal mesh migrating and embedding in a pubic bone? I don’t know. It’s possible that I am the only patient this has happened to. However, I know that this outcome was clearly not impossible.
You may be familiar with zebras as a symbol for rare diseases. This comes from a phrase taught in medical school: “When you hear hoofs, think horses, not zebras.” In other words, the simplest, most common diagnosis is usually the correct one. However, zebras do exist—just as people with rare diseases do. In fact, one in ten Minnesotans is affected by a rare disease.
My rare diseases, physical symptoms, and disability are often invisible to those around me—except when I need to use mobility aids. One of the biggest challenges I face is getting and finding healthcare and staying on top of my medical issues.
Navigating healthcare with an invisible condition is already challenging, and the popular distinction between physical and psychological health often makes it more difficult. It’s important to acknowledge that psychological illnesses are no less real than physical ones. The distinction between the two is often artificial. My recent co-presenter on rare diseases, author Susannah Cahalan, experienced psychosis due to encephalitis, as described in her best-selling book Brain on Fire. For me, I have rare diseases and a history of depression.
I’ve seen firsthand how psychological health is frequently treated in medical settings. Patients displaying anxiety are regularly dismissed. This happens despite the well-known phenomenon of “White Coat Syndrome,” where patients experience elevated blood pressure because they are anxious. If having anxiety at a doctor’s office is common, why is it used to disregard symptoms?
Sometimes I have adrenaline spikes, which is not unusual for people with Ehlers-Danlos Syndrome (EDS), Mast Cell Activation Syndrome (MCAS), and dysautonmia, my third major disorder. To me, these spikes feel like anxiety. To others, they appear as anxiety. It took me a long time to distinguish between anxiety caused by emotions or situation and anxiety caused by adrenaline spikes. Whatever the cause, anxiety is one of the first things doctors notice. This is a natural reaction after years of medical trauma.
Many EDS patients have told me they would rather suffer in excruciating pain at home, and risk death, than endure mistreatment in an emergency room. When seeking treatment repeatedly leads to further injury, physical harm, or trauma, avoidance can seem like the safest option.
After years of medical trauma and dismissals, finding a specialist who truly listens and validates my experiences has been invaluable. I see one who treats patients with complex diagnoses, including connective tissue disorders. She shares research with me and my primary care physician and helps me understand the biological basis for my symptoms. Knowing the cause of my symptoms does not cure me, but it gives me a sense of control—one of the rarest and most precious things in my life.
I see my primary care provider every two to three months. This routine allows her to recognize my normal and my abnormal, treat ongoing issues, maintain any progress we have made, and prevent future issues. The system isn’t perfect, but having regular appointments prevents minor issues from becoming major ones and allows me to ask: “Can I wait until my next appointment to deal with this, or do I need to be seen sooner?” At this point in my life, I almost always wait.
When it comes to treating patients with complex diagnoses, rare diseases, and disabilities, we have to find solutions that work for them. For me, it has been very important to find healthcare providers who listen, who I can be honest with, and who I trust. Every interaction leaves an impact, but—as I reminded the group of physicians I spoke to—interactions with healthcare professionals can have a much greater impact on patients’ lives.
Physicians take an oath to “Do no harm,” but their words and actions, especially during times of vulnerability and trauma, can indeed cause harm. I only ask that healthcare providers acknowledge their mistakes, validate our experiences, and, as I said during my presentation: “Please help us patients find the pieces to our puzzles without causing us more harm than you have to along the way.”