Category Archives: Snowflake Disease

Myasthenia Gravis, The Snowflake Disease(section two, diagnosis and treatment for Ocular Myasthenia Gravis)

This article is second in my series about Myasthenia Gravis. I am targeting  patients and their caregivers, nurses, and allied health professionals. I hope this helps anyone with an interest in the topic. I am an RN and psychotherapist, as well as an MG patient.  I had planned to follow up on section one much more promptly, however I was hospitalized again with an exacerbation (flare up of breathing weakness) due to this disease.  This section will focus on diagnostic tests and treatments.  If you are a patient, your doctor will prescribe what is needed for you.  MG’s nickname is the snowflake disease because symptoms vary so much from person to person.  Also, a patient’s  symptoms can change quickly.  If I have had these diagnostic tests or treatments, I will share a personal experience comment.  Please remember that we patients are as diverse as snowflakes and our experiences vary.

Over two-thirds of Myasthenia Gravis patients experience ocular symptoms before they experience other MG symptoms.  Half the people with ocular symptoms will develop generalized muscle weakness in the first two years of their ocular symptoms. (This is true for me.  I had eye symptoms for one year prior to developing generalized MG). Fifteen per cent of people have only ocular problems.  If someone has only ocular MG for four years, they will probably not develop generalized MG.  Eye muscles are usually involved in Myasthenia Gravis, however a few patients do not have ocular symptoms.

These are tests that are often given to an individual with ocular MG symptoms. The anti-acetylcholine receptor antibody is a blood test that is usually given for both ocular and generalized MG. Your doctor will determine the need for some or all of these other lab tests: Anti-striated muscle antibody, Anti-Musk antibody, Anti-lipoprotein 4 antibody and Antistriational antibody (These lab tests are similar to other blood draws.  I did not find them difficult, but these tests would be traumatic for people who do not do well with needle sticks.)

These vision symptom may appear in other diseases, therefore tests to rule out other diagnoses may be administered. A brain MRI is helpful. (This is a noisy test and the MRI equipment is very close to the face.  Meditation gets me through this.) Claustrophobic patients may need an open MRI. Sometimes the doctor will prescribe an anti anxiety medicine to be taken prior to the test.

Patients with ocular Myasthenia Gravis e an abnormal single-fiber EMG.  In this test, a recording needle electrode is inserted into the neuromuscular junction.  This test is different than a regular EMG. This test should be administered by a doctor with extensive experience.(This test was very painful for me when done on my eye area nerves and muscles. In retrospect, it was worth it because it was conclusive in diagnosing my MG.)

Of course, the skills of the ophthalmologist  are very important in diagnosing and treating ocular MG.  A neuro ophthalmologist should be involved.  There are not many of these specialists.  (I live near a large city and I am fortunate to have this kind of specialist on my team.)

A variety of interventions can help the patient with ocular MG.  A patch on one eye helps  a person with double vision.  Prisms that cling to regular glasses are an inexpensive way to treat double vision.  Prisms can also be ground into glasses.  (Both types of prisms have helped me.) Eyelid crutches are sometimes attached to glasses to help lift drooping eyelids. A special tape can also be used to lift drooping eyelids. Dark glasses can be helpful.  As the day progresses, symptoms usually worsen. Rest may help eye symptoms.

MY REGULAR GLASSES AND SUNGLASSES WITH STICK ON PRISMSfullsizerender-2

Medicines that may be prescribed are drugs that alter the immune system such as prednisone (I have needed prednisone in varying doses.), Imuran (I had a severe negative reaction that lasted for about one week. but this drug does help many MG patients.), Cyclosporine and Cell Cept.  These drugs are quite a mouth full, but after a while they become common language for MG patients.  Mestinon is a different drug classification.  It improves neuromuscular transmission.  It helps relieve drooping eyelids. (I have been helped by varying doses of Mestinon throughout my illness.)

My next chapter in this MG series will address diagnostic tests  and treatments  for generalized Myasthenia Gravis.

Sources: The Myasthenia Gravis Foundation of America, University of Cincinnati Net Wellness, Medscape News and Perspective, Conquer MG of Il, My awesome treatment team, and Fellow Snowflakes

 

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Myasthenia Gravis, The Snowflake Disease (section one, a description)

This is the first article in a series that will provide information about Myasthenia Gravis.  My target audience is patients, nurses and allied health providers.  Anyone with an interest in learning more about the topic may find this helpful. I am a retired nurse and psychotherapist.  I am a patient with the diagnosis of Myasthenia Gravis. Throughout my treatment, I have met many medical personnel who have not seen MG before.  In my years working in healthcare and social services, I had not seen this disease.  I am hoping that this article will help providers treat MG patients. I  also intend to encourage patients to know their bodies and learn how to manage their own symptoms  This is an effort to advocate for MG patients and the people in their lives. This is my way of flipping a negative experience around .  Perhaps I can provide a service to someone who needs it. Here goes:

The name, Myasthenia Gravis, literally means “Grave Muscle Weakness”. Myasthenia Gravis is a chronic autoimmune neuromuscular disease. Immune systems normally protect our bodies. When someone has MG, the immune system mistakenly attacks the patient’s own body. Antibodies destroy receptors for acetylcholine at the neuromuscular junction.  This prevents muscle contraction.  Muscles do not receive the messages being sent.  When antibodies attack and destroy communication between nerves and muscles, weakness in the skeletal muscles occurs.

MG is a rare disease. Most of the written sources that I have researched report that twenty per every one hundred thousand  people acquire this disease. However, a provider recently told me that only three  per million people acquire MG, worldwide.  The nickname for this condition is “Snowflake Disease” because the symptoms vary from person to person.  A patient with this disease may vary from day to day, sometimes from hour to hour. Myasthenia gravis can effect any of the voluntary muscles. Individuals may have one or many symptoms. The muscle weakness can occur on both sides of the body. The symptoms may come and go. The following are some symptoms of MG:

The eyes may be effected.  Diplopia means double vision.  The patient sees two or three images rather than one.  Sometimes the images are overlapping and blurry.  Ptosis means that one or both eyelids are drooping.  Vision may become obstructed. Ocular symptoms are often the first signs of this disease.  15% of people with ocular MG have only ocular symptoms.  Most people move on to experience weakness in other muscles.

About 15% of MG patients report their early symptoms as being face and throat muscle difficulties.  Weak muscles in the mouth and throat can cause difficulties with speech, chewing, swallowing, and choking. Facial expression may be limited due to muscle weakness.  An MG patient may have difficulty holding their head up.

Weakness in hands, arms and shoulders can make it difficult for a patient to lift their arms, wash their hair, shower, and brush their teeth.  Arm and hand weakness can make it hard to lift items from cabinet and refrigerator shelves.  Jars will become more difficult to open.  Gripping items with fingers may be challenging.

Leg muscle weakness may make it difficult to stand  after being in a sitting position.  Walking may become difficult.  Balance may be effected and may cause a wobbling gait.

When the diaphragm muscles are weak, breathing is difficult.  The voice may become weak and raspy when these breathing muscles are not strong enough to move the larynx. .

Extreme fatigue often occurs. Activity worsens MG weakness.  Rest improves symptoms.  Remissions are possible. Exacerbations (flare ups) may occur.  Myasthenia Gravis is not life shortening in the way that some illnesses predict that a person will live for a certain amount of time. Most MG patients will experience a normal life span.  However, MG may be life threatening  when the respiratory muscles are weakened.

Section One has been a description of Myasthenia Gravis.  Future articles will describe diagnostic tests. Common treatments and medicines that may be prescribed by the Doctor will be listed. Myasthenia Gravis psycho socials needs will be addressed.  My final section will be the story of my personal journey with this disease.

 

Sources: Genetics Home Reference @ U.S. National Library of Medicine,  Myasthenia Gravis Foundation of America,  Conquer MG (Myasthenia Gravis Association of Il),  John Hopkins Medical Health Library, and The National Institute of Neurological Disorders and Stroke

Snowflake Art is provided by James Aiello, painter