How a Team of Specialists Diagnosed, Treated My Daughter’s LEMS

In the world of rare disease, it’s not uncommon for a patient to see multiple specialists. We all get quite adept at maneuvering through the red tape in order for a patient to be seen, diagnosed, and treated.

The first doctor we saw when our 14-year-old daughter, Grace, started exhibiting symptoms of Lambert-Eaton myasthenic syndrome (LEMS) was an orthopedic specialist. They quickly ruled out any structural problems and promptly referred us to a pediatric neurologist. This is where we found our home of sorts.

Grace’s neurologist labored long and hard to find the cause of her symptoms. He sought out Mayo Clinic doctors and consulted with them about her diagnosis. He was the doctor who didn’t give up in his search for answers, and even admitted she was what kept him up at night. I will forever be grateful that he didn’t give up in his quest for a diagnosis.

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Once Grace was diagnosed, the neurologist immediately prescribed pyridostigmine and Ruzurgi (amifampridine), both of which were approved for treating LEMS. Next, he recommended monthly intravenous immunoglobulin (IVIG) replacement therapy.

Finally, he ordered the necessary screenings, including positron emission tomography scans, since LEMS can be brought on by an underlying cancer. Once those came back clear, it was pretty apparent that it was an autoimmune issue. At that point, Grace’s neurologist thought it prudent to bring in yet another specialist, a rheumatologist.

I immediately noticed that Grace’s rheumatologist wanted more for her. She wasn’t satisfied that Grace could only walk extremely slowly on her best day. Grace’s energy was still depleted, even after IVIG therapy, and she experienced pretty consistent gagging and slurring of her words. The rheumatologist was proactive, and we collectively decided on Rituxan (rituximab) infusions as Grace’s next most viable treatment plan.

This was a tremendous turning point for Grace’s health and mobility. She improved by leaps and bounds in her gait, energy, and balance because of Rituxan. It is no wonder, then, that I (almost) get excited going to Grace’s rheumatology appointments.

In contrast, I recently wrote about the anxiety I feel going to her neurology appointments. Although we have bonded with the neurologist, I recognize that I still feel some trauma from the initial appointments we had with him when none of us had any idea how to help Grace. Leading up to her neurology appointments, I feel anxious, nervous, and apprehensive to hear what he might say.

However, going to the rheumatologist has a completely different feel. The rheumatologist always shares new treatment ideas. She thinks outside the box and always conveys the idea that Grace can do better than she’s doing. It’s encouraging to hear that there’s room for improvement.

Grace’s rheumatologist was the one who ordered the monoclonal antibody sotrovimab when Grace got COVID-19. She has also educated us about the possibility of getting Grace the antibody combination Evusheld (formerly AZD7442), a pre-exposure prophylaxis against COVID-19 for high-risk groups of people.

We contemplate each treatment the rheumatologist offers. We pass on some of them and try others. But it’s always encouraging to know that we haven’t reached the end of what doctors can do for Grace.

I am grateful for each specialist that has played a part in managing our daughter’s health. When they work together for the good of my daughter, it’s a beautiful thing.

Note: Lambert-Eaton News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Lambert-Eaton News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Lambert-Eaton myasthenia syndrome.