A visit to the neurologist

Hi All...it's been nearly a week since I have updated. It has been a wild week to say the least with appointments galore and just getting the kids ready for school on the 3rd. I still have one more round of shopping to do with them before I proclaim that they are ready, even though they are grumbling about not being ready, that summer was not long enough.

My first appointment was with my ENT doc on Monday for a routine trach change. I get these done every month without fail. It isn't the most wonderful thing in the world to endure, but it is relatively painless if I use lidocaine before the doc swaps the old for the new. The major reason he changes my trach so much is because of the bacteria that love to stick to the plastic, because I have so many problems already in that department, he figures that implementing frequent changes will hopefully lessen my upper airway colonization woes. Another really good reason is to help keep the stoma from growing granulation tissue...unfortunately, there is some sitting in there causing irritation. It feels like a grain of sand is stuck there, sometimes it will bleed a little. My doc will most likely have to take me to the OR in time to remove the offending friable tissue. The discomfort gets so bad sometimes that I want to rip out my trach, but I stop myself short of doing that because hey, that's my airway. I would seriously regret doing that if I did...I just hope that I don't do something like that in my sleep or I would be screwed. Anyhow, my visit with the ENT was uneventful even on the sinus front.

My next appointment was on Thursday in Mass General in the neuro department. As many know, I have an undiagnosed myopathy that has been frustrating me as well as many docs who have laid their hands on me. I just want to know what type it is....even if it has a bad outcome, I just want to know.

My dad, sis and mom went with me on this epic trip. Going to Boston takes some planning on my part, it is 3 hours away with good traffic. On the night before we went, I printed out several maps of where we had to go, I even zipped out a 3-D map of Cambridge street to identify the building so that I knew what to look for. I live for maps, give me a map and a compass and I will get you anywhere. My dad also had his trusty GPS navigator that he was going to use as well, so we all felt that we had it covered until we actually got into Boston. Holy hell, that city is confusing as hell. I have never seen so many one way streets in all different contortions and shapes, round abouts etc. What made it even more interesting is that my dad's navigator rolled over and DIED! That's right....the screen froze and the friendly female voice that told my dad where to turn, ceased to exist! We did not know where we were, we now had to rely on the pile of maps that were sitting on my lap. While I was trying to figure out which way to go, there was another crucial observation made...we couldn't find street markers along the roads until we hit an intersection, or they were hidden by the trees. This made it very tricky to figure out just where in the hell we were driving. My dad after much prodding finally pulled over and asked a fellow Bostonian which was the best way to get to MGH. I had an idea where we were, we were WAY off, literally off of the map! My dad had to retrack his steps and then some, after about nearly a hour of circling the city of Boston and seeing all of the sites, we finally made it to our destination.

The visit went well I thought. I love the neurologist, not once did she make the appointment feel hurried in any way and even answered the many questions that my father had for her. They did the routine neuro exam, which was done twice because the fellow and attending both wanted a whack at me. They checked my reflexes, I am proud to announce that they are normal. They assessed my muscle strength in various parts of my body, literally from head to toe.

What I never realized is just how weak my neck really is. The doc barely had to push on my forehad and my neck flew backwards. Other tests concluded that my neck was indeed weaker than it should be. Strabismus was also noted, I get cross eyed when fatigued. My upper body wasn't too horrible, but there were deficits there as well. My hands also have strength issues as well...but we think that may be from the Ehler's as my joints are a mess. On to my lower body, that was most significant to them. My proximal muscles are weakest according to them which puzzled me because for the longest time, the last neuro that I had said that I had distal problems and not so much proximal. This changes many things, most myopathies affect proximal muscles so now my list of possibilities is a bit longer and gives the docs more to rule out.

I was unable to raise my knee straight up from a sitting position, I have known this for years. It seems that my thigh muscles may be the culprit. I also have a contracture of my left achile's heel which I did not even notice until they pointed it out. I am unable to stand on my heels because of this as my left heel is stiff, not pliable. I felt like I was going to tip right over, not a pleasant sensation! My doc also had me walk a little bit, I tend to waddle and have been for quite some time now. I look like a duck when I walk, maybe that is why some people call me ducky LOL! The final task that they had me perform was squatting and then stand up. Let's just say that I got as far as squatting (with 3 people at my sides) and could not stand back up no matter how hard I tried. They had to literally pull me from that position otherwise I would have eventually plopped down on the floor. Chalk another one up for proximal weakness.

All in all, a very productive visit that lasted nearly 2 hours long complete with blood work (8 vials worth) to look for autoimmune causes along with a disorder called acid maltase deficiency or Pompe's type II. If it does turn out to be this type, then there is treatment that would at least halt its progression. A new drug was just released for this orphan disease not too long ago that would help replete the missing maltase, at least that is what I got from her. I am also being referred to pulmonary and rheumatology clinics for my other problems. One, my CF but also because I am on a vent...I have a pulmonologist near home but it won't hurt to see another one for their point of view. Sometimes it takes a second pair of eyes to get things on track or get optimal treatment.

The rheumy is being consulted for my Ehlers Danlos syndrome as they specialize in the treatment of collagen disorders. I also have to go back to the neuro's on the 12th for a lovely EMG which I hate. I haven't had one in nearly 3 years and they want to see what muscles are affected. Doing an EMG will tell them many things, whether my nerves are intact which I believe they are, it's just my muscles that are giving me hell. Especially my respiratory ones. I see Rheumy on the 23rd, I am going to try like hell to get Pulmo on that same day for obvious reasons, I don't feel like ping ponging back and forth to Boston every week for something if I can help it. As it was, that one neuro appointment felt like forever if you include the driving that was involved, 6 hours round trip but it was worth it in my mind.

For the first time in years, I feel like I have hope in finding out just what has profoundly affected my life so. Not that the CF and Ehlers hasn't, but at least I have a name to them and feel like I can face them head on because I know their identities. With this muscle disease, I don't know what I am up against, don't even know what the prognosis is. Over the years, it has been mostly a see and wait approach with a few tests thrown in to rule out some baddies. I want to know if my kids are at risk for developing this monster disease. As it is, my daughter most likely has Ehlers and is being seen by rheumatologists and will also be seeing my geneticist soon to get a final diagnosis. The way it looks according to her rheumy, she has it and is being treated for it but he wants to defer an EDS diagnosis until she sees the geneticist. If it turns out that this myopathy is inheritable, I will die...it would kill me to see my kids go through what I have gone through over the years. I am praying with all of my heart that this is just a fluke of nature, that only myself is affected.

Well my friends, this is it for now...until later, peace and hugs Jenn :)