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Wednesday, June 28, 2017
Please Help Question from Indonesia
I am starting to work for an organization in Indonesia. They help and school handicapped kids. In the center where i am there is a girl, who`s in a wheelchair and can`t do anything anymore. They keep her eyes open with pieces of tape. They told me her whole family has died from this, and she has nobody left. I`ve been told today that she has myasthenia gravis. I`ve been reading about it and see that there is a cure, or at least a way to make her life better. In the place where she is they say she only has a few more months to live. I will do anything to help this girl. I don`t care what I have to do. If you have any kind of advise, please! Thanks!
There are two types of myasthenia. The one I see most commonly is the autoimmune form, meaning it is acquired later in life and is related to the body's own immune system attacking the neuromuscular junction. The congenital form, which sounds like you might be describing with the strong family history and childhood onset, involves disorders of the neuromuscular junction that do not arise from the immune system (more mechanical or chemical, but not autoimmune).
The next question is whether congenital myasthenia, as opposed to acquired myasthenia, is curable. The congenital myasthenic syndromes are a diverse group of disorders, usually based on myasthenic symptoms since birth or childhood. I can turn down the body's immune response in acquired myasthenia, but that method of treatment does not work in congenital myasthenia. Some types of congenital myasthenia can respond nicely to mestinon (pyridostigmine), ephedrine, or 3,4-diaminopyridine, while others do not. I do not know of any cure for congenital myasthenia, just symptomatic therapy.
Not sure where to help you turn. In the US, I would point you to the National Organization for Rare Disorders (NORD). They might be able to help. I am sorry I am not more helpful.
Robert W Neel, IV, MD
Assistant Professor of Neurology
College of Medicine
University of Cincinnati