Saturday, May 2, 2009

What we did during the weeks of blogging silence

I waited for John's appointment with Dr. Sidewalk. Waited with a boy now talking from maroon gelcaps, and hoped that Dr. Sidewalk would come in and say that this all meant something significant (of course talking Is Significant and if I could only choose one, I would choose talking over a diagnosis). Instead a resident came in and said she supported John getting a power wheelchair and that she supported something called flexible homebound schooling. She even talked about being proactive and taking measures to prevent stool impaction. Oh, and she declined to examine John because she said she wanted to help conserve his energy. Energy conservation seems to be the primary management tool of mitochondrial and related disorders (I guessed that from looking around; no one stopped me on the corner and outright told me.)

While I was listening and smiling, I was really saying inside and still am: "A power chair? You mean those things that weigh 250 pounds and you have to get a special van for? Homebound schooling? Don't you know that school is to get them OUT of the house? Everyone says John is doing great; are you sure you are in the right room? [You know, all those people who say he is doing great and nothing else, the ones who I want to yell at.] Why do you have to come in here and say all those things that I know are totally APPROPRIATE for the first time like that? You trying to put me in shock?"

John's diagnosis hadn't changed one bit, but the underlying discussion had changed.

Dr. Sidewalk for his part said that we should expect that John will continue to just stop eating when ill, as he does, and just start again when better, as he does. At least, he said when I asked about that phenomenon, which has previously been discussed, "And that will be his pattern." He also said that he still hopes John will get to walking at some point.

Since the diagnosis of "possible mitochondrial disorder" hadn't changed, I had to look up and find out how they rate these things. I found something called the Modified Walker Criteria. I can't paste it here because I'm sitting in the woods with no internet access to grab it. There are other ways of rating and diagnosing mito, but this is one. It has three levels: definite, probable, and possible. Which level you are at depends somewhat on your symptoms, and mostly on what tests you have had and what the results were. Unfortunately, a great deal of the testing requires that you be put under general anesthesia and have a piece of your leg muscle cut out, and that they flash freeze it and send it to two different states and do a bunch of things with it. Unfortunately, this frozen type biopsy sometimes does not find what they are looking for, even when it is really there. And then there are the little mistakes, like when they don't freeze it right or it thaws before it gets to Buffalo or wherever they are sending it. So kids end up having gone under anyway (which can be really bad for them and cause regression which they may or may not come out of), their insurance paying a lot of money, and then they may wait years with an unclear diagnosis and end up having to do it again, sometimes more than once. I have a bad feeling about that. There are some people who have had a diagnosis accomplished with frozen biopsy, but it's only supposed to be 65-70% accurate and at this moment it doesn't justify the risk for us.

Over these weeks, I've tried to understand what we are to do, or not do. I've read about energy conservation and tried to wrap my mind around it. I've tried to read about other management, too, and that's unclear enough to not write about yet. And those darn full text articles that you have to pay for, keep getting in my path. And I read a little about prognosis. Guess what? Very unclear. I know two things. Make that three. One, prognosis for someone who starts out with birth defects and global delays, is different than for those who start out appearing totally normal (and those folks run the whole scale). Two, John is an exception to some rules because of the alternative therapies that have worked for him so far. Three, there are disorders, like some genetic syndromes, that affect respiratory chain function greatly, that aren't the standard "primary" mitochondrial disorder.

One doctor I have spoken with, not John's doctor, made this short comment: "You know, mitochondria are funny things...."

On May 15, we're making our first trip out of town to see a big city doctor. This is a doctor who does mitochondrial and neuro-metabolic stuff. I've heard mixed, but mostly glowing reviews, though there's no guarantee she will like our odd beliefs and lifestyle. I'm kind of hoping she will be more bold in her speech than we have yet experienced. I should plan to tell her, "I just want you to know something. If you say he's doing great with no other comment, I am going to scream." I hate to say it, but I have a little hope that she might help in some way. Other than waiting for that?....

I'm almost ready to take a deep breath.

Actually, I took one, and one wasn't enough. But it was nice.

I am getting a little braver. Even though I can get a rep for being argumentative, controlling, or even when advocating (this is a quote from one professional to another) "scary," I am actually shy and not the greatest communicator. I started a dialogue with John's pediatrician about diagnosis, prognosis, and management, on the day of my last blog entry. I hope we will move to a new level of care. We really need to get beyond spending 15 minutes talking about specialist visits that were inconclusive, and into the more important things like "Listen, after John rejected his dinner X hundred times, I just gave up, and I'm feeding him banana slices at dinner every night and I'm concerned that his weakness is greater than it needs to be due to poor nutrition."

Recently we had a bad time with a good ending. John had a long cold and hadn't been eating enough. I had it too and on a particular Friday afternoon I felt too sick to take him to the doctor. This happened to be the same Friday afternoon that he also started complaining of ear pain, then had two hours of difficulty exhaling (cured with simple rest) for the first time ever. The next morning he had one of his muscle tone collapses and vomited bile. I quickly packed a suitcase for the hospital and told my daughter that her birthday party would probably be cancelled. It was also raining and flooding. As a last minute thing, I called the homeopath. She agreed that we should go to the hospital but said, just give him this one thing before you go.

I gave it to him. He instantly sat up (SAT UP from a collapse) and said, "Ohhhh, I drank too much milk." Which wasn't really true because it was a teeny sip that had caused the vomiting to start, but it was very sweet. Then he said, "I want a bottle of MILK!" And he drank the whole thing and didn't vomit or fall over again. This was one of those moments that makes believers out of homeopathy doubters, but only when you experience it firsthand.

And thanks to Grandma and her friend, the birthday party was on anyway and John improved so much in 5 hours that he attended it (I had planned to either be at the hospital or in the bedroom with him with the door closed holding him). The sun came out and four little girls held our baby chicks and painted one of the 3000 gallon rainwater tanks.

I've never been in such a changeable situation. I'm 39 and I wonder if I will ever get used to the fact that the things that happen in life, are mostly unrehearsed.