The Grueling Road to Diagnosis for My Rare Diseases


It took 28 years of searching before I finally got my diagnoses. Those 28 years were grueling and at times emotionally devastating. I have Ehlers Danlos syndrome (EDS), a connective tissue disorder, which can affect any and all of my body’s systems. Like many people with Ehlers Danlos, I have postural orthostatic tachycardia syndrome (POTS), which causes variability in my blood pressure and heart rate; and dysautonomia, which causes my body to not adjust its mechanisms properly for tasks like temperature regulation and digestion. I also have a whole host of autoimmune issues. This is also common in people with EDS. I have over 200 defined allergies which cause anything from rashes and goopy eyes to massive swelling in my face and abdomen. Complicating this picture is mast cell activation syndrome, which causes allergy-like reactions. Sometimes there are identifiable triggers, and sometimes there aren’t. I also have Celiac’s disease and idiopathic hypersomnia, which causes me to sleep a lot. The doctors suspect mitochondrial disease, although they haven’t been able to prove it with a test yet. Those are only some of the diseases that complicate my life.

The diseases and their accompanying symptoms came on gradually. I had exaggerated pain in my limbs as a child, which was dismissed as growing pains. I had burning pain in my chest when running. Then I started to have gastrointestinal problems. I developed severe asthma at 19. Soon my joints were swelling and I was in pain every single day. I still persisted with everyday activities. My mom’s mantra when I was a child was, “if it hurts when you do that, don’t do that,” but she also believed in being active and pushing yourself to achieve whatever you desired. I desired to play ultimate frisbee and soccer, tae kwon do and speed rollerskating. I loved to ride horses and jump. So, I persisted despite the pain and other problems.

I was diagnosed at 24 with fibromyalgia. At 25 I was diagnosed with idiopathic hypersomnia. At 25 I was also hit by a car, and everything was blamed on that and fibromyalgia for the next 15 years. It didn’t matter what the symptom was. It was fibromyalgia or permanent damage from the car accident. It could be blurry eyes and double vision, or shortness of breath, or being cold when the temperature was set to 80. It could be memory problems and aphasia (garbled sentences and struggling to find words). It could be my muscles giving out and being unable to walk. It didn’t matter what the symptom was.

Life was getting harder. By the time I was 40, things really were going downhill. I regularly experienced blurriness and double vision in the afternoon. Sometimes it was so bad I couldn’t read the screen on my computer, even at 150 percent. I was having a lot of trouble staying awake at work. I was even having microsleep episodes during conversations. My heart rate was often over 100 with even very mild activity. My responses were often obviously off-target based on the feedback I would receive. I started using two canes instead of one. My legs and lower back developed extreme pain and dysfunction the longer I walked. Occasionally I was unable to walk and would be stranded wherever I was until I rested. I started using a scooter at work. My face and abdomen were also swelling more and more over time. Sometimes I looked disfigured. Sometimes I looked nine months pregnant. I could swell 12 inches around the waist right after eating or drinking something. It would last for hours. I started wearing maternity clothes because I couldn’t find another way to accommodate the massive swelling. Cognition, muscle weakness and fatigue had huge impact on my ability to work in a meaningful way.

Soccer, frisbee, horseback riding, roller skating, martial arts were all things of the past. I gave up each one when I absolutely could not do it anymore. I couldn’t run. I fell frequently. My endurance dropped dramatically. I couldn’t balance anymore. I also gave up art (hard to do with tremors and blurry/double vision), volunteer work (didn’t have the endurance or cognition for it), gardening, and so many other things. I had to learn to accept lower baselines over and over. I still had no diagnoses that explained the severity of my illness.

I knew something was very wrong. I am an Occam’s razor kind of woman. I figured there was some underlying disorder causing everything. I found the path to diagnosis very difficult. I am generally a calm, patient person. I like to research things. I’m a data analyst by trade. Sifting through information to find meaningful correlations is my thing. Trying to work at a diagnosis through physicians was demeaning, insulting and crushing. I had to take breaks. I had to talk through my anger and frustration with therapists. I had to find doctors who were willing to dig in with me to figure this out – and it was a long road through many doctors to get there.

I was told (by various physicians):

“You are getting older, things are going to change.”

Three times: “You have somatoform disorder, you need to see a psychiatrist.”
I went through two psychiatry consultations, which both resulted in my being told I have marvelous coping skills and as reacting quite naturally to having a chronic illness.

I argued for 20 minutes with a physician who wanted me to admit I was depressed (although I wasn’t depressed).

I was told I was over-interested in my health and needed to think about other things.

I was told I should stop seeing doctors and focus on the capabilities I still had.

I was told I was just fat when I complained about swelling around my throat (which was a moderate goiter and angioedema).

I was told I just needed to lose weight, eat according to the food pyramid, and exercise.

I was told I shouldn’t want to be ill. (I want to be ill? I’m pretty sure I don’t want to be ill.)

The first break came in 2015 when my thyroid numbers went up too high and I was diagnosed with Hashimoto’s hypothyroidism. A real answer, finally. Then my ophthalmologist determined my eye problems were likely systemic in origin. I started seeing an allergist to get shots to see if it would help.

I was frustrated with my primary care physician. He seemed to really not care about my health issues or think they were valid. Some of his comments were demeaning. I switched doctors and went to a muscle specialist, who was the third doctor to preemptively decide I had a somatoform disorder. He declined to evaluate me, told me I was doctor shopping, mocked me, and asked what I was doing with that big brain of mine (the implication being that I was too focused on my supposed illnesses). I was angry and frustrated. I felt alone and isolated in my illness. It was difficult for me to persist when I knew every new doctor might be another disinterested, demeaning jerk. But that doctor’s mocking nod toward my intelligence sent me on a new road. I decided to focus entirely on finding a diagnosis myself. I’m smart. I can read. There is a ton of literature available on the internet from disease associations, the National Institute of Health, doctors, and universities. Sure, doctors hate it when patients self-diagnose, but it had been 28 years. I figured I had to do it myself if I was ever going to find out what was wrong with me. I dug into it.

During that time I turned to direct patient testing. I methodically studied the available tests, what they were intended to diagnose, and based on how likely it was that it might be a candidate for my illnesses, I tested. Any negative results were filed away. Any positive results, if they seemed important, I shared with my doctor. (This was a wonderful way to make progress without negativity.) The doctors retested with their preferred lab. I hit the jackpot with autoimmune panels.

My immunology/allergy specialist is terrific. Compassionate, helpful, interested, and knowledgable, he helped me through many cycles of testing to determine what was going on with my immune system. I have approximately 12 immune-related diagnoses.

Sifting through the problems caused by my immune system, I looked at the symptoms that were left and kept at the research. By this time, 28 years after disease onset, I figured it was most likely a rare disease. (Presumably a common disease would have been found already.) If a disease seemed like a good match with my symptoms, I joined Facebook communities for the disease and talked to patients. If it was ruled out through those discussions, I went back to look for other things. Finally I stumbled on Ehlers Danlos syndrome. When I joined the Facebook discussions, I had tears in my eyes. These people were my peers. They all had the dizzying array of symptoms and dysfunction I experienced. They all had dealt with demeaning doctors and with their abilities being whittled away by the disease. These people were my people. They referred me to a knowledgeable doctor in my area and I was diagnosed within six months.

The year after my final diagnosis, the impact of my diseases was so severe that I had to stop working. It was really fortunate that I had the diagnoses in hand. Otherwise, getting support for going on disability would have been nearly impossible.

Throughout the course of my journey I learned several things:

1. Doctors are just people and come with the wide array of personalities you might expect.

2. Doctors don’t know everything.

3. Doctors really hate it when you get emotional (it doesn’t matter that you have a good reason).

4. Rare diseases are often difficult to diagnose, and most doctors simply do not know enough about them to recognize the symptoms or diagnose them properly.

5. The legitimacy conferred by a thoughtful diagnosis cannot be overstated.

6. Do what you need to do – take time to recover, to grieve, to get therapy, to find support – then persist. No one cares as much as you do about getting to the bottom of your illness.

The answers are out there… somewhere. Persist.

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Getty image by Peerajit


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