The Medical Day Part of the Day in Philly

Yesterday was a really big day for me. A lot happened while nothing happened. It was huge.

The whole reason to go to Philadelphia was to see Dr. Carsten Bonnemann, at the Children's Hospital of Philadelphia. He is a specialist in neuromuscular conditions, especially limb girdle muscular dystrophy. My aunt went there with her daughter and met with Dr. Bonnemann some time ago, maybe in the fall or summer of 2007.

We finally made an appointment about mid-February for yesterday. We had an 0830 appointment and got there about seven minutes early (the traffic in Philadelphia is absolutely horrendous). We filled out the paperwork, got Ma registered and waited in the room with a million kids. OK, not a million but way too many. You know me, no kids is perfect. One child is livable but not ideal. There were at least six or seven in there. I must say that they were more behaved than most. Maybe it is because they are there with neuromuscular issues from minor and not obvious to the patently debilitating - wheel chairs, trachestomies, the really severe issues.

The patient is my mother, and it was obvious that she was not the median age group treated there. That was amusing although I wondered how much help they'd be if they are all handling primarily pediatric patients. But I kept an open mind, since we'd heard great things about both the facility and Dr. Bonnemann. The only thing I disliked there was the freezing temperature in the waiting area. I talked with Ray while Ma napped on the chairs and Tom & Jerry played on the telly.

We were waiting for about 45 minutes and then got into a room with an examination bed and it was that much colder than the waiting room! All the employees wore long sleeved shirts and layers and it was not because the weather suddenly became freakishly warm. It was warm all week and completely known that it would be in the 80s. But that whole wing was in the low 60s if that.

When in the room, a nurse came in and got basic information and vitals and a brief history from my mother. She left and we waited longer until Dr. Lancaster, Dr. Bonnemann's colleague, came in. He took a very full history of my mother, more from me (I know her full medical history of 40 years and any information she'd told me about prior issues) and he also did a more thorough examination - pushing/pulling, balance, walking, eye tracking, muscle strenght, and (this was really entertaining) her reflexes. She has none! I'm not kidding, not a single thing reacted - feet, knees, arms, hands, not a bloody thing. Staggering! Not the tiny reaction.

He also took a large tuning fork instrument, banged it against his leg and tested her range of sensation. Unsurprisingly, she has none in her feet (they're always freezing due to neuropathy/poor circulation from diabetes. Those feet'll be coming off if she is around and continuing to abuse her diabetes that way) and diminished in extremeties. But it was fascinating to watch.

He also asked me some questions about my history, but no exam. However, my description of all my experiences and direct issues matched a fair amount of my mother's (without the element of diabetes) but with one very interesting thing. He asked my mother if she ever had trouble with her muscles tightening in the winter and not relaxing and it being very painful and without thinking I responded, "Holy shit! I have that!" I explained that when I was in my early 20s I had gotten sick for an extended period in the winter and my muscles did that - arms, legs, whatever - and it was excruciating. No one ever figured out what had made me sick (there was some weak hypothesis that I might have gotten a form of mononucleosis or possibly... you know, my mind has blanked on the illness that -- Epstein Barr syndrome. For a few years after I had the illness I slept for ten hours every day - I needed to get that much! But it did finally go away. The muscle tightness in cold, however, is still a problem.

He was with us for a long time, and then went to get Dr. Bonnemann and the geneticist. They came in shortly after and it was quite a crew - Dr. Bonnemann, a very tall German man with a very open unjudgmental face, Dr. Lancaster, the genetecist, whose name I absolutely cannot recall (assuming that she'd been introduced), the nurse from earlier, and a woman here from Latvia who is also a specialist in neuromuscular genetic diseases and this is part of her study. Dr. Bonnemann took my mother through most of the tests that Dr. Lancaster did, then took a detailed history (again, mostly from me) and then took my full history and then it was time for my examination.

I went to the other table right under the window and he went through all the muscle strength tests with me, rating my reactions from minus five to five. Minus five is no muscle strength and five is normal muscle strength. Mostly I had minus fours and minus fives. A couple of things were five minus (meaning just below five, but higher than four). But my leg, arm and neck muscles were terrible. I knew that and had pointed that out but the tests easily confirmed it. I actually worked up a sweat doing this.

He then tested my reflexes and I have excellent reflexes - super! Everything that he struck jumped immediately - all of them. No issues there!

He stated that we had DM2 - dystrophia myotonia 2, a very, very rare form of mucular dystrophy. This rules out limb girdle muscular dystrophy, which is what we thought we had. DM2 is much more unusual but much less debilitating than DM1, where most people are constantly breaking things when the muscles don't relax when told. We don't have that at all.

I was weak (ha, ha) with relief. All I wanted was to know - definitively - what is wrong with me. Now I do.

The day before, Thursday, Bush (in a freaky moment of clarity) approved the law that one cannot be discriminated against for having a genetic disease. My employer would never do that, but now EMS personnel also are protected against that. My squad has not done it that I know of, but I'm sure some do.

We both had an ultrasound test on our muscles and that also showed the obvious problem. Healthy muscles don't show up as anything - the screen is black. On my scans, my muscles showed some opacities and atrophying muscle especially near the surface. My mother's scans were almost completely opaque.

We had blood drawn around 1330 and then met once more with the crew to go through the next steps. We need two more trips to Philadelphia - one to have a nerve reaction test (my mother only) and each get a special heart monitor that we each will wear for a 24-hour period and return to them for analysis (keep in mind that the heart is a muscle, so it needs to be monitored more in patients with DM - either one). Then we have another trip down to Pennsylvania University to meet Dr. Lauren Ellman, a specialist in DM2.

We were there until 1430. Six hours. There was a lot of waiting in between, but the periods where we were involved with the medical staff were very rich, very full and extremely satisfying. I've been going to neurologists on and off for the last eight years to find someone who would take me seriously and none of them did. Now I feel like going to every one of them and telling them that listening to their patients might be in their better interests.

I will admit that when I got home yesterday the first thing I told Luis was that he owes me an apology for the other week when he basically called me a liar when I told him I could not lift the half of the television to move it. (It's 90lbs, so half of it is 45lbs and I can only - at best - lift 25lbs. And the muscle groups I need to lift something are one of my weakest sets. And Luis was pissed off at me for not doing it. He actually said it to me.

Saying "I told you so" about that was emminently satisfying.

So that was the medical side of our day in Philly.