After Years of Fatigue and Muscle Weakness, I Found Out I Had a Rare Autoimmune Disease
She was too exhausted to work or even carry her toddler, and her doctors had no idea why.
I’ve always been healthy and fit, the kind of person who eats clean and goes to the gym on a regular basis. So when I had my first indication in my late 20s that something was off—I developed swollen lymph nodes in my armpits and on the side of my face—I wasn’t terribly alarmed. My doctor sent me to the hospital for a biopsy, but it didn't turn up anything.
Those symptoms went away, but in my early 30s after a trip to Jamaica, my lymph nodes swelled up again. I also developed dry eyes, headaches, trouble digesting food, nausea, and joint and muscle pain. All of these sent me reeling back to the doctor’s office. After a bunch of tests from specialists, no one knew what to make of it all. Tests did show that my gall bladder wasn't functioning properly, so I had it removed, and I did start getting better.
Too weak and tired to walk upstairs
A few years later, I woke up one morning and felt a weird tingling all over my body. It was as if I had suddenly lost all my strength—I couldn’t walk or even carry my 2-year-old son up the stairs.
Just like before, doctors screened me for everything under the sun, including multiple sclerosis and lupus, but nothing came out positive. My symptoms worsened, and muscle pain and weakness persisted. It was hard to go up stairs without the use of the hand rail. I had trouble pushing a grocery cart around the store because my strength was depleted. Things got so bad that I had to take a leave from my corporate job. Other family members and a nanny had to help get my children to and from school.
Yet each specialist appointment was pretty much the same: I’d be there for about 15 minutes, they’d check my vitals and glance at my charts, and then put in the order for more tests. At one point, one of the physicians suggested that my sluggishness and tingling was a side effect of anxiety, which I knew it wasn't.
This upset me so much. My body was failing me, but so was my medical system. I was frustrated by how physicians refer patients to specialists, and it can take a very long time to get an appointment to be seen, even in critical situations.
A Google search and a new doctor
Instead of continuing this cycle, I did a Google search for a new physician. I found one I used to see and really loved, Louis Malinow, MD, an internal medicine doctor. He was now part of a concierge network. I’d heard a lot about concierge medicine and its benefits—doctors who spend more time with patients and are easily accessible. But I also heard that these benefits come with a price tag, since concierge doctors don't often don't accept insurance. But my symptoms were still escalating, and no one else in my insurance network would see me without a two-week wait.
So I gave him a call. He scheduled me for a two-hour visit the next day, though I had to sign up for his service, which cost $500 per quarter. It’s not as cheap as a $25 copay, but it’s a lot less than some of my friends spend on personal training or housecleaning services, I reasoned.
In my first visit, Dr. Malinow listened as I recited every detail of my medical history, symptoms, and health. He ordered additional lab work and combed through every single medical document and record. He ruled out other diagnoses such as Lyme disease, and when I explained how I was having symptoms intermittently in flares, he had an aha moment.
Diagnosed with UCTD
He was able to diagnose me with an uncommon autoimmune condition: undifferentiated connective tissue disease (UCTD), which affects the connective tissues that hold the body together. Like other autoimmune disorders, UCTD is hard to diagnose.
"A disorder is classified as undifferentiated connective tissue disease when it cannot be classified as another type of connective tissue disease, such as rheumatoid arthritis or lupus," states the National Institutes of Health's (NIH) Genetic and Rare Diseases Information Center. The NIH says muscle weakness is a common sign, as is dry eyes, which I also developed. It's not known why some people develop it, but it may be influenced by genetic and environmental factors, adds the NIH.
Because UCTD doesn't have a precise definition, there's no established treatment for it. Dr. Malinow started me on an anti-inflammatory diet and had me add more foods with anti-inflammatory properties to my meals, such as berries, dark greens, nuts, extra virgin olive oil, fish, and dark chocolate. He recommended I go to physical therapy along with regular trips to my rheumatologist.
Feeling normal—and grateful
Today, I feel 800 times better than I did three years ago. I’m not 100% back, but I work out with a trainer and have built up my strength to where it used to be. Although I still get occasional flare-ups, I’m able to cope with them better.
When I consider the cost of potential hospitalizations I’ve avoided, I almost think having a concierge doctor saves me money. After my experience, I’ve come to realize that physicians truly want to help their patients. Unfortunately, the way our current healthcare system is set up, doctors aren't always able to care for patients comprehensively, because of the emphasis on volume. I’m grateful I was able to get the care I needed.
To get our top stories delivered to your inbox, sign up for the Healthy Living newsletter