I wouldn't be surprised if my mother had post traumatic stress disorder (PTSD) after the events of this May. When she couldn't rouse me from my sleep just before we had to attend to some testing appointments at the Mayo Clinic, she knew something was wrong. I was found incontinent of urine and that meant something was very wrong. Some of the events I'm about to share are not meant to gross people out, but to highlight the severity of my medications and how they can be affected by my medical conditions. I was prescribed a single, non-narcotic painkiller for my Complex Regional Pain Syndrome (CRPS) and pain conditions. It worked extremely effectively in between IV treatments. That was one doctor. Another doctor had me maxed out on one muscle relaxer that I didn't think was really helping, over the FDA approved limit on another muscle relaxant (which was semi-helpful, but dangerous), and 44mg of benzodiazepines a day. Most people cannot tolerate 0.5 mg of the benzodiazepines and I was taking all of that combined plus an antidepressant for nerve pain. The one doctor who prescribed all the medication then decided that she wasn't going to see me anymore. Great, so now I'm in a wheelchair with an undiagnosed condition taking enough medication to stop 12 men from breathing. I had tested positive in my blood and cerebrospinal fluid (CSF) for an antibody most shouldn't have called GAD 65. People with diabetes or thyroiditis would have it, but I don't have either condition. This led us to fly to the Mayo Clinic to see the world's expert on stiff person syndrome (SPS).
So back to the morning of May 11th, 2016, when I was status epilepticus. My mom called 911 and they transported me to the ER where I had a 2 EEGs and a CT scan. After some tests, I was put on antibiotics, had a lumbar puncture, and was placed on a ventilator. Then I went into a coma in the neurotrauma ICU for 10 days.
Over those 10 days, my dad and brother drove from Pennsylvania to Minnesota, while they all prepared for my death. Doctors told them to expect me in a vegetative state at best.
After I was moved down to a lower unit, I started rehab and they continued monitoring me until I was sent home. Upon arriving home, I saw my PCP, who wrote scripts for physical therapy, occupational therapy, and neuropsychology. When I went to my first OT session, the therapist dismissed me almost immediately. I didn't need her services. I didn't require the services of a neuropsychologist and I only had to do PT for a pre-existing ankle injury. Success! The recovery was by no means easy, but hard work pays off!
May is Better Speech and Hearing Month. Because I spent the better part of May in the hospital undergoing testing, spending 10 days in a coma on a ventilator sedated and lucky to be alive, as well as rehabilitating physically and cognitively; I think we can excuse the delay. This past month, advocates such as myself, are working to raise awareness. In today's world, we have fantastic technology. One of the inherent risks of this fabulous technology is the potential for noise-induced hearing loss. I say this because we should be protecting our hearing everyday.
I once had a older woman come up to me while I was at college and blast me for being so reckless with my hearing. Well, the fact of the matter is that I never had a choice. I was born without most of my hearing and I've worn hearing aids and cochlear implants since I was diagnosed at the age of 4. This woman's attempts at "changing the world" were misdirected and she judged me before she knew the complete story. When I explained myself, she was terribly embarrassed that she had made such a mistake. Individuals like myself and my family have congenital (genetic) hearing loss.
While some people are born without the nerves to hear like me (sensorineural hearing loss), others are born without the typical anatomy that would allow them to hear normally.
Unlike many teenagers my age, I can count on one hand how many times
I have been to a concert (and they were all after I became completely deaf). The reality is that every time you go to a rock concert, you risk losing more and more of your hearing. You know that ringing in your ears after hearing a loud sound? That's called tinnitus and it leads it eventual hearing loss. That is preventable and that is what I want to take this opportunity to educate you on.
Wow! What a long day of testing. I'm tuckered out. We missed my CT scan of my chest, abdomen, and pelvis, scheduled for 7AM, but we were able to get it rescheduled for 2:00. We got a call from the neurologist's assistant requesting that we get yet another EEG while we are here, so that means that we will be here until Friday.
The day started off with some labs and they wouldn't access my port, so I had to have multiple sticks in my arm in attempt to get a 24 gauge needle (the smallest needle they make) into my arm. Completely defeating the purpose of having a port, but whatever. Not fun, but they got blood for folate levels, GAD65 levels (for the third time), thyroid function tests (for at least the third time), and a few more.
Afterwards, my mom and I did some retail therapy in the clinic gift shop. We got sweatshirts for everyone in the family, a really cool coloring book with some awesome colored pencils, a pencil sharper, and some jewelry. Mayo even has a place where you can store your retail therapy purchases while you attend appointments and tests! Isn't that awesome?! This hospital is pretty incredible. I've never been in a hospital like it.
Next up was the autonomic reflex test. It was a two part study. The first was to prove I have CRPS. That's a joke. We already know I do. Not to mention I have had that test (QSART) two times already and they were both grossly abnormal. Again, whatever. The second part was a tilt table test, something I have never had done before, but I have needed it for years. The cardiologist at Children's in Pittsburgh refused to write for it because my heart rate only increased by 28 beats on standing instead of 30+. Semantics considering I had all the symptoms of POTS (postural orthostatic tachycardia syndrome). Anyway, this test made me symptomatic, so we will definitely be getting some good information from that portion of the test. Finally someone had the guts to write for it!
After that, we headed down to the cafeteria to grab some lunch. I had some delicious meat lasagna with mashed potatoes, vanilla pudding, and gluten free cookies. We sat with some wonderful folks that validated my feelings of frustration over repeating tests constantly. They too experienced the same thing. The one woman was misdiagnosed and treated for melanoma *the deadliest form of skin cancer* for TEN YEARS, before coming to the Mayo Clinic, where she was diagnosed with squamous cell carcinoma (a much more benign cancer). Her advice was definitely something I needed to hear. From someone who just gets it.
Then, we hurried up to the Movement Disorders Lab, where I had an EMG-like muscle response test. Instead of using needles, they used electrodes, which I was so thankful for. My CRPS affected legs were not in the mood to be repeatedly stuck with needles (especially because it is rainy in MN today, which exacerbates chronic pain symptoms). Then, they did a startle test (which a positive result is fairly classic for SPS) and indeed, the startle test made my muscles spasms uncontrollably for several minutes. Afterwards, they shocked the bottom of my feet repeatedly to create muscle spasms. That was incredibly painful and that's saying a lot coming from me.
Next, we rushed down to radiology to get a CT scan of my chest, abdomen, and pelvis. I'm not really sure why the doctor ordered these, but I think it is because he wanted to make sure that there aren't any cancerous tumors anywhere, as patients with SPS are at a higher risk for cancers. This was a fasting test (which no one told me about) and I needed IV contrast. Once again, they refused to access my port, so they stuck me multiple times to get an IV (in turn causing a CRPS flare in my left arm. Lovely and again, defeating the point of the port), The CT scan was uneventful and I am not expecting anything to show on the scans.
Finally, we reached the end of our day. More appointments tomorrow and Tuesday, and some testing on Friday. Friday night, we will fly back to Baltimore, my parents will switch and my dad will fly back to MN with me on Monday for Tuesday's appointment. We will likely fly home Wednesday. That's the tentative plan for now.
That's all for today! Check back tomorrow for updates on what the SPS neurologist has to say after all my testing comes back!
Well, today we had the first appointment with the stiff person specialist. He said my diagnosis could be a variety of things ranging from dystonia, SPS, or something medicine doesn't even have a name for yet (just my luck). Dr. McKeon said that I definitely have aspects of autoimmunity in my system based off my elevated antibody titers, so he is recommending a trial of IVIG, regardless of what he finds. If I manage to stump this doctor too, I don't even know what to think. I had a mini meltdown due to being hormonal from PMS and that wasn't pretty, but I was definitely not happy being subjected to the exact same tests for the second, third, even fourth time (especially because they aren't exactly painless). No one seemed to understand that except for my friends with chronic illnesses and I can't possibly expect any healthy people to get it. It just doesn't work that way. So yeah, I pretty much melted down. I am a bit ashamed of it, but if anyone else walked a mile in my shoes, they would be melting down too, so...
My mom and I were both frustrated by the lack of any definitive information from the doctor. It was very confusing, wishy washy, and created way more questions than it answered. I didn't come to Minnesota to leave without answers, so I hope this guy is as good as they say he is.
Using logic and medical knowledge, dystonia should be ruled out because it does not have an autoimmune component (and I don't respond to its treatments). CRPS also has no known autoimmune component. So in my black and white mind, it's either stiff person syndrome or an autoimmune movement disorder yet to be discovered by modern medicine. We will just have to see what tomorrow's full day of testing will bring.
Signing off from the Mayo Clinic in Rochester, MN!
For those of you new to my journey, after months of anticipation, my mom and I have made the 2 1/2 hour flight from Baltimore/Washington International Airport to Minneapolis/St. Paul to see the world's expert in my rare disease; stiff person syndrome. This specialist is at the Mayo Clinic in Rochester, MN, about an hour and 20 minutes from the airport and about 20 minutes from our (wonderful!) hotel. (Did I mention the price per night is pretty awesome?) Very important on a potentially expensive medical trip like this!
Anyway, after arriving at our hotel, I made a beeline for the bed. I was so tired after several days of not sleeping well. Now, I slept like a rock for a solid 4-5 hours. So I guess the real question is: Will I be able to sleep tonight? Keep in mind, I'm an hour behind you folks on the East Coast!
In the meantime, my mom ran to the Super Target down the road to pick up water, a phone charger, and a few other things. On the way back, she stopped at the Texas Roadhouse to pick up some ribs and fries for me (Yum!). The only thing left on my list of things to do tonight is to take a shower and my night medications.
But before I do that, I want to share a story about a special young man who happened to be sitting next to me on the flight. His name is Mo and he was born with a rare genetic condition called Nemaline Myopathy, a form of muscular dystrophy (MD) that affects 1 in 50000. Like most forms of MD, it causes the weakening of his skeletal muscles and he needs assistance with tasks like standing up and he cannot stand or walk for long periods or distances. He is a senior at Minnesota State University and we talked the whole flight about the struggles of growing up with a chronic condition and having to adjust life goals to what your body is capable of doing.
Like me, he has had to change his major and career focus to adapt to his MD. At one point, he wanted to be a civil engineer, but soon realized that the strains on his body would be too much. It was a very enlightening conversation with a well spoken young man who just "gets it".
I think that's enough from me for tonight. Please keep me in your prayers as I see Dr. Andrew McKeon at the Mayo Clinic at 12:30 CST/ 1:30 EST. Check back tomorrow evening for an update on how things go! I'll be posting updates throughout the whole trip to keep everyone back home in the loop! Love to all back home and thank you for your continued prayers. They are keeping my mom and I going!
Meg Bayer, signing off from Rochester, Minnesota! Good night!