Patient Perspective: Journey to a Myasthenia Gravis Diagnosis

Anita Longoria, a patient with myasthenia gravis, discusses her journey to a diagnosis.

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eye and eyelid, facial expressions, chewing, talking, and swallowing. Weakness tends to increase during periods of activity and improve after periods of rest. The condition results from a defect in the transmission of nerve impulses to muscles, which is due to the presence of antibodies against acetylcholine. The exact reason this occurs is not known. Some cases have been linked to tumors in the thymus gland.

Ms. Longoria explains that she began experiencing symptoms at four years old. These included dizziness, lightheadedness, and extreme fatigue that even caused her to fall asleep in school. These symptoms persisted throughout high school and college, where she struggled to keep her grades up and foster relationships. However, she persisted and graduated college and eventually went on to law school.

She began seeing doctors for her symptoms at the age of 16 years. However, no one was able to explain her symptoms or provide any answers. In her early twenties, Ms. Longoria began to experience more severe attacks of symptoms where her hands and arms would stop working, which then led to pain, numbness, and tingling. This resulted in misdiagnoses such as tendonitis, fibromyalgia, and overuse syndrome, and a referral to physical therapy. She describes her experience with physical therapy in which she continually had to advocate herself when physicians believed her condition to be psychological.

After seeing a neurologist, Ms. Longoria tried various medications to help with muscle inflammation. Unfortunately, she experienced several bad responses to medications and decided to try an alternate route to manage her symptoms. After 6 to 7 weeks of acupuncture, she began to improve and gain function back in her arms. Biofeedback was also successful in helping symptoms.

Over the years, Ms. Longoria has seen multiple physicians including internists, ophthalmologists, neurologists, hematologists, rheumatologists, and endocrinologists. All were just as unsure about her condition as the next. Her symptoms also began to expand to sleep issues, shortness of breath, cognitive and processing issues, voice differences, urinary incontinence and urgency, heart flutter, temperature dysregulation, headaches and pain, deep persistent cough, and blurred vision.

Finally, after seeing an optometrist and explaining all her symptoms and experiences, he noticed her eyebrow raising as she became more upset, a common occurrence when the eyelid begins to droop, also called ptosis. This ultimately led to her diagnosis of myasthenia gravis after a referral to a new ophthalmologist. This doctor ordered a blood test that came back antibody positive for all three AChR antibodies.

Ms. Longoria began treatment with a neurologist 4 decades after her onset of symptoms. Currently, she takes Mestinon to manage symptoms and the treatment has had a profound impact on her quality of life.

She stresses that her symptoms do not fit the textbook case of MG and that there are a lot others like her that go undiagnosed or misdiagnosed. She believes a fundamental misunderstanding of the disease and its presentation is the cause of this.

00:50 - Childhood symptoms
2:44 - College years
4:05 - Paralyzed arms
9:00 - Acupuncture
19:12 - Struggling to find answers
32:00 - Diagnosis
44:00 - Treatment