Before the blog...my journey to diagnosis

So, since I have been horribly inactive I thought I would share the full, unadulterated story of what I went through on my journey to diagnosis. Warning - This Post Is Looong! I have to confess, life has been so busy and so crazy lately that I am taking this from an email I communicated to a newly diagnosed contact but it dawned on me that I didn't start my blog until after my January hospital stay so I would post it here...this is my story...

I was delivered the news that I have bicuspid aortic valve disease unexpectedly last June when I was hospitalized for what appeared to be a stroke. While performing all of the tests to see why the left side of my body was not working and the right side of my face was extremely weak (drooping eyelids, slurred speech, drooping mouth) they performed a bunch of scans/CT/MRI/blood tests and... a chest echo. I was discharged from the hospital with a tentative diagnosis of either anxiety due to stress (though I revealed that life was going quite well aside from the fact that I was hospitalized on my 10 year wedding anniversary) or complex migraines (which was funny to me since I have suffered migraines since I was 16 years old and this “stroke” event did not have the vision auras or any head pain…at all that always accompany a migraine).


Two days after my 3 day hospital stay I saw my GP for follow up and found out that they discharged me without even reviewing the echo. To my surprise, out of all the tests run, this was the only one that was abnormal. It showed a Bi-Cuspid Aortic Valve with insufficiency, mitral valve insufficiency, and tricuspid valve insufficiency with evidence of mild pulmonary hypertension. So, off to the cardiologist I went. The cardiologist performed a TEE which confirmed the BAD with
insufficiency but showed only mild mitral and tricuspid insufficiency and no pulmonary hypertension. He said, you are fine and your heart is unrelated to the stroke like event. I had done some research and had many of the symptoms of pulmonary hypertension: fatigue, shortness of breath, and a feeling of pressure on my chest when I did the slightest of activity. In addition to that I had extreme residual weakness of my eyes and my arms/hands and I was determined to get to the bottom of it considering the fact that I have two young children and I am the primary breadwinner while my husband is back in school. I called a friend of mine who is an RN and she said there was a local Pulmonary Hypertension clinic and gave me the number. Two days later I was in the office of the pulmonologist who saved my life, though neither one of us knew it at the time.


My pulmonologist performed a six minute walk test and after 2 minutes my oxygen SATS dropped to 80, they put me on supplemental oxygen for the remainder of the test and they didn’t go above 88. After the test was finished and I was sitting for 5 minutes they shot up to 100%. He took off the oxygen and they stayed at 100% until he had me get up and walk again, then they fell right back down again. So, he said, there is definitely something wrong with you and I promise to get to the bottom of it. I was prescribed oxygen to use anytime I wasn’t sitting in a chair or laying down, but also when sleeping. Then he one by one ordered the million dollar work up. I had a Chest X-Ray, a Chest CT with contrast, a nuclear pulmonary V/Q scan, a whole body V/Q scan, and a right heart cath. All came back normal so thankfully I did not have pulmonary hypertension. Unfortunately we had no answers except
for the fact that I had an oxygenation problem, weakness, and a Bicuspid Aortic Valve. I also found out that my aortic root had enlarged since a prior CT was performed in 2007, but it certainly wasn't causing these problems. After researching this I found out that people with Bicuspid Aortic Valves are born with connective tissue issues that make them more prone to Aortic Aneurysms, like I needed one more thing to deal with!


In the midst of all these tests I went back to the Neuro who saw me at the hospital, after an EEG he decided it must be complex migraines and wanted to put me on a beta blocker. My old doctor tried that on me and it landed me unconscious in the ER with a blood pressure of 70/50. So, you can imagine my dismay at his recommendation. I said, I am happy to try your theory if you would be willing to run some additional tests first. He was so offended that I would not try the beta blockers and that I challenged his diagnosis that he dropped me as a patient. I walked to my GP’s office in tears (they work in the same building) he told me the guy was a pompous “fill in the blank” and not to worry about him, we would figure this out together. Apparently the neuro I saw went to Harvard and thought he was a big
fish in a little pond and had quite the reputation for upsetting or blowing off patients...just my luck.


The next week I was scheduled for a pulmonary function test which was ordered by my pulmonologist. Note this is the least invasive and least expensive all the tests ordered. At any rate, I was alarmed when my pulmonologist called a few nights later to inform me that the test showed diaphragm weakness due to a neuromuscular disorder. He referred me to a different neurology office and said we may be on the
right path. I went to the appointment and after performing the exam the doctor took a step back and said “I think you have Myasthenia Gravis” this was due to the fatigable generalized weakness and the ptosis from the eye strength test. She called in four residents to show them what it looked like and explained that while there is no cure there is treatment, I said sign me up! However, she wanted to
confirm with the blood test. When the blood test came back negative she was very aloof and said, well I don’t know what it is, maybe vasculits or something. When I asked if I could try a trial dose of Mestinon or Prednisone she said no, there is nothing more I can do for you. I later learned, when gathering my medical files that she suspected anorexia. I went from 150 pounds to 125 pounds and shrinking in two weeks and by the time I saw her (almost 2 months after my hospital stay) I was 115 due to the fact that it was extremely difficult for me to swallow! Note that for a woman who is 5’6” 115 is not considered underweight though the rapid rate at which I was wasting away sure scared the heck out of me. Okay, so that was late August.


I spoke with my GP and he referred me to the University of Michigan. He personally called the head neurologist to discuss my case and by early October I was in Ann Arbor and hopeful for some answers. After going through my 3rd neurological exam, my second EMG, my first single fiber EMG, and more blood tests, the head of Neurology diagnosed me with “suspected sero-negative generalized Myasthenia Gravis.” The only thing he was scratching his head at was the rapid rate at which
my oxygen fell with any level of activity but he did start me on
Mestinon (this was later confirmed to definitely be due to the MG but more on that later). My dad had taken me to that appointment and I was so anxious for any type of relief that I made him drive straight to the nearest pharmacy in Ann Arbor. I took my first mestinon and 30 minutes later I did not sound like I had marbles in my mouth and I could read the highway signs. I said, “dad, this is it, they finally
figured me out!” I was ecstatic!


The prescription called for me to take 30mg of Mestinon every 4 hours and titrate up until I had side effects…i.e.I ran to the bathroom with what was second only to the urgency of a colonoscopy prep. That dosage was 60mg every 4 hours and so my journey began. A few weeks later I called U of M because while the Mestinon helped me during the day, after I slept I could not move my arm to turn off the alarm clock
and was so weak that a few times I fell after getting out of bed. I was also starting to feel kind of dizzy. The neurologist prescribed Mestinon Timespan for bedtime so the Mestinon wouldn’t wear off while I slept. It worked like a charm for my morning strength but the dizziness was still there, I felt like I had just stepped off a boat, or had a few too many cocktails.


Four weeks after my tentative diagnosis and med trial I had a follow up scheduled with my pulmonologist and new cardiologist. To my amazement I passed the 6 minute walk test without oxygen…bye, bye oxygen tank! I literally happy danced myself out of the office (albeit weak and out of breath, I didn't care I got to ditch the tank)!They said my diaphragm must have been so fatigued that it caused atelectasis which caused the lack of oxygenation. They said it was a pretty good confirmation of MG. So I got through November until Thanksgiving. I don’t know if I caught a bug or was just doing too much given how good I felt compared to how bad it was for 6 months
but I spent the first week of December hospitalized with a crisis. My breathing was severely affected and so were my legs. I was given 5 days of IVIG at the hospital by the pompous neuro previously mentioned who apologized to me a gazillion times and at discharge I was given a walker and In home nursing care for four weeks. At the
end of the nursing care which included physical therapy I was able to walk unassisted for most of the time. One week later I was in Ann Arbor for follow up with my fantastic neuro who confirmed the diagnosis and added prednisone and regular IVIG to my treatment schedule..


Unfortunately, I must have picked up a bug somewhere because a few days later I felt lousy, and I mean lousy. I checked my oxygen sats (I ordered a pulse ox off amazon.com when I was on the oxygen tank to monitor what my readings were) and my pulse kept shooting up and my oxygen kept dropping. I called my neuro right away and he said I was headed for a crisis fast and said I needed to go back to the
hospital. I said I didn’t want to go to the same one I had been at previously so he called the other major hospital in our city and spoke with a very kind, non pompous, 72 year old neurologist who followed his orders to a “T” and offered to assist me with any local needs I may have under the direction of my specialist in Ann Arbor. He was amazing, in my room at 8am every morning to check up on me and chat. I had 3 days of IVIg and started on bi-weekly in home treatments after
that.

The rest of the story is available here...on my blog.

Hugs and blessings,
Jen