Greg Josephs, Myasthenia Gravis Foundation of America (MGFA) Volunteer Ambassador and patient with myasthenia gravis (MG), discusses living with a rare disease and valuable resources available to patients.

 

 

MG is a rare chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control:

  • Eye and eyelid
  • Facial expressions
  • Chewing
  • Talking
  • 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.

Mr. Josephs describes his most burdensome symptom as slurred speech. This symptom ultimately led to his MG diagnosis. Typical of rare diseases, Mr. Josephs’ diagnosis was an obstacle, taking time and a good deal of advocating for himself to healthcare professionals.

Mr. Josephs wants physicians to know that diagnosing rare diseases takes a great deal of humility. It is important to recognize that symptoms can vary greatly and ruling out other diseases is crucial to a proper diagnosis. Patients want the correct diagnosis and treatment plan, even if that may take a little longer.

The MGFA provides resources and information for those diagnosed with MG and their support systems. From staying up to date on treatment options and clinical trials to attending patient conferences, learn more at Myasthenia Gravis Foundation of America.

To learn more about myasthenia gravis and other rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/