If you are just finding this, you can locate the previous posts in the series here.

The last few years have been very bad. I was so sick. I mistakenly thought that giving up softball, bowling, riding my motorcycle and such seemingly trivial things was bad… Not so much. Bad is hitting your head on the refrigerator door when getting the milk, or opening the cupboard door in to your face, not being able to write, drive, eat crab legs because I was not strong enough to crack them, tie my shoes, hold a cup, walk to the mailbox and much more. My life was exhausting.

I spoke of a dark time previously, this is another really, really dark time. I was genuinely convinced I was dying. In my mind’s eye no one can be this sick and not be dying. I spent most days in bed, I had to hire someone to clean my house because I couldn’t, I couldn’t drive and the pain was next level. I persisted in my search for an answer, but it grew even more difficult because I couldn’t take myself to the doctor any longer and I was having a terrible time trying to even remember the things I needed to tell the doctors.

Then at my general doctor’s visit things changed! This guy who was always so nice, trying to help, whom I had recommended to others, angrily spoke to me and stormed out of the room because he was out of ideas. In all fairness I cannot say he is a good doctor. When someone who is sick for a long time like me comes in you should remember or at least have brushed up on the things you have tried or tested for previously. Below is a loose description of the conversation of that visit.

He came in & said hello, shook my husband’s hand and asked why I was there. I explained I was following up after seeing the cardiologist.

He then asked me what was going on. I answered with the same typed list of my symptoms which he had seen many times previously. It took me a week to compile this list, because my brain was so foggy.

He glanced at the list, then said well let’s send you to a rheumatologist. I replied that I had already been and he couldn’t find anything.

He then asked how about we send you to a gastroenterologist? I replied, I have already been to and cleared by the following doctors you referred me to:

• gastroenterologist
• cardiologist
• rheumatologist
• psychiatrist
• neurologist
• urologist
• internist
• gynecologist
• ophthalmologist

To which he replied angrily and said, then I have no idea. This made my husband upset and he asked “isn’t that your job?” Which is fair. The doctor responded by angrily leaving the room in a tantrum, then returning after a few minutes with an order for a head CT.

This was the last straw. Time for a new doctor… again. In my adult life I have been through 9 family doctors. Only once was it because I relocated. This is pattern I referred to in volume 2.

So I got myself a new doctor and as God is my witness, she’s the bomb. I actually didn’t even tell her my issues the first 2 visits. It’s just exhausting and I thought it would be better to ease in to it… Yep, I was scared to tell her. However, she wore me down and I finally told her. She jumped in to action by chasing every medical record I ever had, anywhere, down. She took an extensive, 45 minute medical history where she asked me questions and I didn’t have to try to remember everything. Then she ran some blood tests.

She called me with my results personally, explained that I was deficient in several items such as Vitamin D, Iron, Calcium etc. She explained every result and asked me questions about my life pertaining to the tests. Then she asked if I would be willing to repeat the DEX Scan, because my results from 2 years ago weren’t good. I agreed.

Then it happened, a report was added to my Nebula Research Library which matched what I personally know about my illness. For example, I have known for some time that it was both autoimmune & neurological. So I called my new doctor and asked for an appointment.

The next day at my appointment, armed with the DNA report I asked her “what about Myasthenia Gravis?”. She replied, let’s have a look at that and took the paper from me. She read it, every word I’m sure because it seemed like I was waiting forever LOL. Then she replied, you might just be right, let’s get you to a neurologist I know.

My DNA has a polygenic score for myasthenia gravis of 0.83, which is pretty high. Basically it means my score is higher than the polygenic scores 83% of people in the database. The study is here.

Myasthenia gravis (my-us-THEE-nee-uh GRAY-vis) is characterized by weakness and rapid fatigue of any of the muscles under your voluntary control. It’s caused by a breakdown in the normal communication between nerves and muscles.

There’s no cure for myasthenia gravis, but treatment can help relieve signs and symptoms, such as weakness of arm or leg muscles, double vision, drooping eyelids, and difficulties with speech, chewing, swallowing and breathing.

Though this disease can affect people of any age, it’s more common in women younger than 40 and in men older than 60.

Mayo Clinic CON-20166451

So I set up the appointment with the new neurologist. To be honest we didn’t exactly hit it off, but he agreed to do the simple blood test (anti–acetylcholine receptor (AChR) antibody (Ab) test) for the disease. Which for the record, no doctor in 35 years has ordered it for me!

When the results came in, I was scheduled to come back and see him. He explained that my results were negative. I was so upset. When he saw how upset I was he started asking me questions. Then he said, I have an idea lets try the medication, if it works we know. He explained that rarely people have Seronegative Myasthenia Gravis. Which he explained only means there are other antibodies which cause this type of disease which we are not able to test for yet, as we haven’t identified them. So he sent me home with Pyridostigmine.

Pyridostigmine affects chemicals in the body that are involved in the communication between nerve impulses and muscle movement.

Pyridostigmine is used to treat the symptoms of myasthenia gravis. It is also used in military personnel who have been exposed to nerve gas.

Drugs . com

Seronegative Generalized Myasthenia Gravis is very rare. Myasthenia Gravis itself affects about approximately 14-40 per 100,000 individuals in the United States. Only 10% of these have more than eye involvement, which is called Generalized Myasthenia Gravis and the Seronegative Myasthenia Gravis cases is only 5% of all diagnosed Myasthenia Gravis cases.

Now, let me warn you, this a highly underdiagnosed illness in America. Seronegative Myasthenia Gravis isn’t diagnosable with a blood test, patients often go longer without an accurate diagnosis. Even with typical MG symptoms such as eye drooping, double vision, shortness of breath, and difficulty chewing and swallowing. About 3% of MG patients have a primary relative with myasthenia gravis suggesting a small but distinct but not direct genetic influence.

There is no cure, but there are treatments. This man, my neurologist is my hero, he gave me my life back. A few weeks ago my husband & I went on a mini vacation and I walked the Kennedy space center in Cape Canaveral. The medicine can be challenging to navigate, but I am getting the hang of it. I have to do a chest CT to check for thymomas, as it’s common. I may have to have my thymus gland removed even if I don’t have thymomas, but if I do it will help me to manage the symptoms better.

Most importantly, I can tie my own shoes now! So if you’re struggling without a diagnosis, don’t give up!