The Elusive Diagnosis: When Doctors Just Shrug

Rip Van Winkle. Ring a bell? He’s the fellow who wandered about in the Catskill Mountains only to meet up with a group of ornately-dressed bearded men who uttered not a word. They may not have been a chatty bunch, but the liquor they shared was laden with a sleeping potion that stole 20 years from our friend. According to the story, Old Rip nodded off, only to awaken 20 years later to an unfamiliar world, with which he was no longer acquainted.  This is where my story starts….

Over the past 20 years, I’ve been sleepy…..really sleepy.  I liken my chronic drowsiness to taking sedatives every 4 hours of every day.  I’d sleep 10-12 hours a night and still fall into a coma at some point during the day which necessitated a 60-90 minute nap. Most days, I enjoyed 5-6 functional hours,  thanks to medications used to treat sleep disorders like narcolepsy.

Doctors  postulated theories to explain my sleepiness: chronic fatigue syndrome, depression, chronic pain, anxiety, allergies, sleep apnea, nutritional deficiencies, Lyme disease, medication side effects and idiopathic hypersomnia (sleepiness with no known cause). None of the above seemed to pan out, so I offered my own 2 cents and added a couple of culprits of my own – African Sleeping Sickness, Cancer, Magic Spell (along the lines of what happened to Mr. Winkle). Finally, I took stock out in toothpicks-I had to have some way of keeping my eyes wide open. 

When medical professionals can’t come up with a diagnosis, they often just shrug, apologize, blame the system or the patient, send you to a different specialist so you are no longer their problem, and of course, some dare to share their opinions, many of which are insensitive and insulting.

Looking over my labs, one physician declared, “You look perfect on paper!! HAHAHAHAHA.” Other comments included, but were not limited to, “You probably have Chronic Fatigue Syndrome. Learn to live with it.” and “You are getting older. You do realize that 55 is not the new 25?!?”  Comments like these just made me angry. I envisioned poking their eyes out or punching them in the throat. I would never have actually done these things because I value my freedom and jail does not look fun and neither does the psychiatric unit of my local hospital.

For years, I rode the waves of acceptance, rejection, frustration, resignation and desperation. Every single test came back “Normal”, which, as I’ve been told by many a doctor “is a good thing.”  I beg to differ- it is not a good thing when you know there is something wrong, but no one can figure it out!

Combined, my symptoms of sleepiness, exercise intolerance, allergy to alcohol, flushing after eating, extreme reactions to environmental allergies in the spring and fall including headaches, sinusitis, hives and vertigo as well as overall body itchiness did not seem to fit any one diagnostic category.

Literally, sick and tired of being sick and tired, I tried to cover up my symptoms and hide my sleepiness. I lived a double life. When I did go out with friends, I held everything together, only to spend days recovering, sleeping my life away.

Several years ago, I happened upon a new doctor in my area specializing in treating mysterious maladies, including chronic fatigue. I eventually picked up the phone and made an appointment. His first availability was in 6 month – 6 months!

Luckily, there was a cancellation. One month and a zillion blood tests later, Sherlock, the mystery-solving doctor felt certain that I had something called, Mast Cell Activation Disorder (MCAD) and gave me large doses of antihistamines. I was skeptical. What a load of rubbish! I stopped seeing him. A waste of money, I told myself.

Nevertheless, the allergy connection made sense to me and when I got really sick this past February, 2018, I called my allergist. I mentioned the MCAD diagnosis, which was met with resistance, disbelief and push back. In her opinion, I did not have the classic symptoms of MCAD and apparently the new doc on the block did not even do the right test to confirm such a claim. I begged and pleaded shamelessly for her to do the right test. I must have looked and sounded pathetic, because she finally agreed.

The test for MCAD came back positive. Seriously…it was positive. I felt numb, shocked, but more than anything, I felt vindicated.

What is MCAD?

Mast cells, which are part of the immune system,  release mediators, like histamine, to remove the thing you’re allergic to. In MCAD, mast cells release mediators too frequently and too often and the body is negatively impacted. In other words,  MCAD is caused by hyperactive  mast cell activity.

One treatment option was to receive once-a-month injections of a medication which reduces sensitivity to allergens. The side effects? A possible increased risk of cancer, stroke and heart disease is all. I immediately signed up.

After 4-5 months, I gradually felt less sleepy. Was this due to a placebo effect? I think not.  I definitely feel 60-70% better than I did a year ago and like Rip Van Winkle, I’m rediscovering my world. What’s changed?

-I sleep less. I still take naps, but I awake after 30 minutes feeling refreshed. During my zombie years, I would take 2-2 1/2 hour nap and still feel sleepy and out of it.

-I am able to read again! I don’t fall asleep after 1 page.

-My focus has sharpened. I am no longer in the clouds all day.

-I am more socially active and see friends more regularly.

-I have free time. What a concept!

-I want to explore the world! I thought my travelling days were over. Next stop? India!

-I laugh harder, longer and louder.

-I don’t dread a night out. I look forward to it!

-I’ve even had nights where it is hard to fall sleep – totally new phenomenon.

-I can be near animals without having asthma attacks, though I do keep my Epi pen close at all times.

-I’m slowly starting to exercise again, and the cramps, muscle soreness and rigidity has lessened significantly.

The drug is expensive, but it has breathed life into my soul. The drug has side effects, but now I live  each day more fully and with much more awareness.  The drug is not the miracle cure, but it Has changed my existence. I no longer spend my precious energy fending off heavy eyelids or the need to fall asleep anywhere, anytime. The change is palpable and exciting, but if I stop the monthly injections, I’ll most likely be sleepy all over again.    But, science is advancing rapidly. Before you know it, there will be other medications with fewer side effects so I’m not going to worry about it. I’m going to embrace the moment and be grateful for how I feel today.

If you have a mystery illness, a chronic or progressive disease, symptoms without a cause, do not give up. No one knows what tomorrow will bring, and it might be the day you find an answer or read about a major breakthrough.  Believe in yourself and a few select others and move forward. What do you have to lose?

I dedicate this story to my sister, Kathy who lives courageously with an undiagnosed illness. There is hope. Like the Forget-Me-Not below, you too will overcome. I got your back, sis. I love you.