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LEMS Advocates: Never Accept ‘I don’t know’ When Looking for Answers

Navigating a rare disease diagnosis can be challenging and is often filled with many doctors appointments, trial and error with different treatments and misdiagnosis. One condition, Lambert-Eaton Myasthenic Syndrome (LEMS), is known for being difficult to diagnose, as it can mimic other health conditions. LEMS is a neuromuscular condition that primarily affects the muscles in the arms and legs, causing weakness that makes walking difficult. People diagnosed with LEMS typically also have small cell lung cancer, which is why receiving the correct diagnosis early is so important. 

To better understand the misdiagnosis journey faced by people living with LEMS, The Mighty reached out to three LEMS advocates about their experience.

Meet Ashley, a nurse who has lived with LEMS for five years:

Ashley was 25 when she first experienced symptoms, beginning with chronic acid reflux. A GI doctor diagnosed it as acute stress and recommended yoga and deep breathing. Not surprisingly, that didn’t help: “After that, I started noticing more weird symptoms. My pulse shot way up. I was living with a baseline pulse of 160. And at work, it would go in the 200s.”

After passing out at work, she met with a cardiologist who diagnosed postural orthostatic tachycardia syndrome (POTS), a neurological condition that affects blood flow. That just didn’t seem right to Ashley. She got a neurology referral, and was lucky enough to be matched with one who had some experience with autonomic nervous system disorders. Eventually the truth came out. 

Ashley’s diagnosis journey took a full year, and she feels very fortunate. “I know people that have gone 10 years waiting for a diagnosis. So I truly consider myself to be lucky.”

Because her employer was understanding, Ashley has kept working. Her colleagues were a different matter.

“They were not nice to me at all about it. They ostracized me, they told me that if I was that sick, I shouldn’t be a nurse. They didn’t think it was fair that I got special treatment.” COVID-19 complicated her work life, too. Because of her health, Ashley doesn’t care for COVID patients, which struck her colleagues as unfair. “That was honestly one of the hardest things for me to deal with. It was heartbreaking.”

With treatment, though, Ashley’s LEMS symptoms have improved.. One of her most important treatments is regular IV therapy and she’s careful to stay on top of it. She learned how important it was during a medication shortage two summers ago: “I went without treatment for three months and that quickly humbled me because I realized how much I needed it. I actually am at the point where I look forward to getting it because I know, once I get it, I feel so much better.”

She advises patients to not give up when an initial diagnosis doesn’t ring true. 

“Make sure you advocate for yourself, make it known how much your life has changed, and don’t give up until you get a diagnosis. Find a doctor who’s like you – someone who just won’t give up. Sometimes it feels impossible, but it’s not. There will always be someone down the road to help you or to give you an answer.”

Meet Emily, a nurse and 20-year LEMS advocate:

Emily’s first sign of something strange came in November 2000, when she was 35 years old. “I was normal when I went to bed, but I woke up with severe back pain. I had what I described as heaviness in my legs. I first thought I had a back injury. Over the course of eight months, I progressed to almost complete muscle loss and atrophy of my lower and upper extremities.”

Also, a nurse, Emily simply couldn’t keep up with her work duties. “I went from seeing 10 patients a day to only being able to see two, I would get extremely fatigued, I would not walk places because I couldn’t make it. So, it was a pretty quick progression.”

Emily was her own worst critic; it was her family and co-workers who pushed for an answer. “I was like, ‘Oh, just tough it out,’ but the pain just got too bad. My family noticed though. They said, ‘Look, ou need to go see somebody.’”

Her primary care doctor prescribed physical therapy (PT), assuming she had a back injury. Not only did PT not help, her symptoms actually became worse. “My family ended up taking me to the ER. The doctor recognized that I had absent reflexes, and the way that I walked was not normal. And so, he was actually worried that I might have had multiple sclerosis.”

MS was the first incorrect diagnosis. She also went through diagnoses of myasthenia gravis and chronic inflammatory demyelinating polyneuropathy (CIDP) and even conversion disorder, a psychological condition in which a person has unexplainable blindness, paralysis or other nervous system symptoms. 

“Basically, they said I was ‘making it up.’”

It took eight months to find the right answer. Finally, a neuromuscular specialist diagnosed her with LEMS.

“I was relieved but scared. [I had so many questions:] Am I going to die? Can I be a mom? Will I ever get better?”

Unlike Ashley, infusion therapy made Emily sick, giving her terrible headaches and nausea. Medications that work directly with acetylcholine and calcium, two important players involved in LEMS, are now the cornerstones of Emily’s treatment. 

Her advice for people with newly diagnosed LEMS?

“Don’t give up. Demand a higher level of care. Don’t accept ‘I don’t know’ as an answer, because that’s not okay.”

Meet Julianna, a 30-year LEMS veteran: 

Juliana has no problem describing her life with LEMS: “It’s like a roller coaster ride that you can’t get off. That’s my best description – very high highs and very low lows. I have been on my deathbed, in hospice twice already- those are the lowest lows. And my high highs are when I make a comeback, like I’m doing right now. Just feeling my strength again, trying to focus on making my muscles stronger.”

Juliana was on a Colorado hiking trip in 1992 when something started to feel different. . “I was just having a really rough time with my hike down some of the rocks, and took a couple of falls. I thought I didn’t give myself enough time to adjust to the altitude. When I got back to work, I  just walked down the hallway and fell. I thought maybe my heel caught in the carpet.”

When she fell a second time, a co-worker stepped in. “She was married to a doctor, and she said ‘I’m going to get you in and seen by a doctor and have you checked out because there is just something not right.’”

Juliana was also prescribed physical therapy. “I started having such a hard time getting out of the whirlpool bath. My body went limp and they could barely get me out of there. My next step was to see a neurologist, and this is where I got really fortunate because this guy really dug for me.”

She had the familiar first misses: MS and myasthenia gravis. When those tests came back negative, Juliana got a referral to a muscular dystrophy clinic, where the truth was revealed. An electromyogram, which measures a muscle’s response to electrical simulation, painted a clear picture of LEMS. The diagnosis came eight months after her first fall.

“I’m one of the longest [diagnosed] living patients with LEMS. It’s been 30 years now.”

Juliana gives huge credit to a multidisciplinary neurology team at the University of Colorado, which manages her care. Getting the right team together isn’t easy, but it’s a must, she said.

“You want someone who’s knowledgeable and who’s going to dig, dig into your case. If you’ve got a good advocate on your side, then you’ve got it made. Those people are really hard to find. But you need a team.”

As a senior member of the LEMS community, Juliana has shared her experience and wisdom with hundreds of other LEMS patients. “I have a Facebook group that’s international with over 1,300 people in it –we’ve been able to bring people all over the world together.”

Juliana wants people to know that while a LEMS diagnosis is a tough turn in life, it’s not the end.

“This condition is treatable [and finding a treatment that works for you can be] life-altering.”

Like Emily and Ashely, Juliana says being tough and persistent is the key to getting a diagnosis and being your own proactive health manager.

“You need to hang in there and keep being persistent. Be willing to do some educating with your healthcare provider, because a lot of times you’re the first person that they’ve ever seen with LEMS.”

Looking for LEMS resources? Check out LEMSaware to find a downloadable health care provider discussion guide, symptom tracker and more!

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