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.

A Maroon Thing that Made John Talk

I've been trying to write this and trying to not write it for days. I have conceptual paresis. I've been chewing some information about John for some time and I can't swallow it. It's against my nature, but what I would like to do is just give up, take the chewed up mouthful outside to some well-prepared soil (never mind that good soil has to be imported in this time and place), and put it in the bottom of a little hole and plant a little flower plant in the hole. Then in about two months, when the flower blooms, I will come back and instead of ever chewing this whole thing anymore, I am just going to sniff it, only for a second.

I know why John gained speech. There are three reasons and this one of them is the biggest. It's a little maroon colored gelcap called coenzyme Q10. And it's kicking my butt.

The fact that John is talking is good. The fact that John is talking from CoQ10 probably indicates that he has a progressive disease.

I was the one who came up with the mitochondrial disease idea, 11 months ago. John's doctors, as far as I know, had him in the "he has X except for a few funny things which don't match but which we never think about except every 6-12 months for 30 minutes" category. But it bothered me. He had these symptoms that were not supposed to be found with his diagnosis. One day, 11 months ago, someone I distantly know posted a note that her somewhat-similar-to-mine son was just diagnosed with an unknown mitochondrial disorder. Because of the somewhat-similarness, I immediately went and looked up this thing that I had never heard of. And I spent about two months in a state of oh boy (after which, by the way, I thought I was fully adjusted). I wrote John's pedi but things happened and we didn't get to meet about it. He referred us to the neurologist, but the wait to get in was so long that John had had his summer weird falling down into the hospital by the time we would have seen him. At the time there was no metabolic doctor in our area for him to see and I didn't even know what that was anyway. But that's all past.

Fast forward to the end of summer, when the city had just acquired a nice new metabolic doctor, and it was almost like we met coming down the bottom of two slides. I always like making a good impression by meeting someone for the first time at 3 PM when I have slept the night before in my clothes, am tired from a day of being blown off by good old boys and praying during weird tests, and am sitting in a kid hospital bed with the rails up nursing my three-year-old. As it should be, though, this doctor met us as gracefully as if we had invited him for tea presented by a full serving staff. And it went normally from there, except that unlike normal doctors, I could understand almost none of what he said the first two hours, and I still haven't gained enough experience with this topic that I can guess what he is going to suggest or even how he will structure our visits. I am very slow to adjust. I had been complaining to other folks for about two years that John had lost a few skills and such, but now that we have a doctor who gets out a pen and says, "Okay, since we last saw you, what skills has he gained and lost?"- when he says that, I can only stammer while my mind goes completely blank.

So, this doctor's quest is to try to figure out if something metabolic is going on with John. We started with a huge quantity of blood tests and detailed interviews and exams. If certain of the tests don't lead anywhere, a next step is a muscle biopsy. They take a big piece of muscle out of his leg, flash freeze it, and hopefully keep it frozen and send it to all sorts of places and do things to it to look at the mitochondria and some other little tiny things.

Last time we met, I was prepared to explain why I had changed my mind and didn't want the muscle biopsy done then. Instead, our doctor suggested the same thing when I was only in the first sentence of my argument. He suggested that we do a trial of CoQ10, which is one of the main medications prescribed for mitochondrial disease. I am not going to explain CoQ10 here. I'll write about it when I am feeling cheerier.

There was one catch to the three month trial, which was important. I couldn't tell John's therapists anything about it. There is a good reason, and that too belongs elsewhere. It sounded pretty easy, and I went out right away and got the stuff.

It is supposed to take some time to get the level built up in your blood. John had only been on it for five days when he had his first therapy session. It was PT. He was acting so strange. He was agreeing to try a large number of new things and enjoying them. This was not my kid.

Two days later he got a bad cold that erased a lot of therapies from our calendar. But you know what happened after that. It started with the molasses cookies and went up to...to where it is now, a beautiful, improbable point that I am tired of trying to describe.

We kept going to therapies and he would do things, like say the therapist's name, or meet his goals, do something he wasn't supposed to be able to do, talk in sentences.... At first it was kind of fun to just smile when the therapists commented on how well he was doing. Then it became outrageous, and finally ridiculous. I was feeling like an idiot, not being able to say anything to them. It was impacting his treatment. For a couple of weeks I told them there was something I couldn't tell them, and finally, I told one.

There was something part of me liked about the blind trial. It was a little like pretending it wasn't happening. I could just be ignorantly happy along with the therapists at how well he was doing. But in another way, I didn't like it, because by four weeks in I knew: his strong positive response to CoQ10, an important ingredient in multiple ministeps of the respiratory chain, pointed to what was wrong. And it was hard to be the one tasked with temporarily hiding our new hint of what was wrong, because, dammit, I'm the mom.

The good news and the bad news. I am sitting on my fingers to keep myself from apologizing for being dramatic. I can apologize later, and maybe later I will even be able to write and say I was all wrong about this. You know, I went to read family stories on the MDA website today and the first one I read was about a boy who was misdiagnosed with a more serious disease than he had. On the other hand, I've suspected this for a year with that mommy gut feeling and have just been waiting around for some doctor to get on board.

But back to being the mom. It's possible, though not certain, that this little experiment could help a large number of patients, and I don't regret trying it in this way. My personality is perfectly suited to extending denial by 9-10 weeks. It was hard because when John was doing the great new things, if I was really completely honest I would have said, "This is killing me. I'm watching him do so well and knowing it means he is going to go downhill."

Things were complicated by the fact that about 7-8 weeks into the trial, we told another doctor about the sudden speech. Through a flurry of excited running about and doctor to doctor talk, I got some secondhand instructions that didn't make sense about the trial, and to get it worked out, I called the metabolic doctor's office three times and never got a return call.

I held out on the original plan for two more weeks (but still not to the end of the 3 month silence period) before telling a second therapist. I was starting to get the explanation into a package that was easier to say. When I got home I felt like I had been punched in the stomach. That made either two-thirds or three-quarters of John's therapists knew now. It had suddenly become real. Fortunately I didn't have to face any more professionals for 72 hours. When the 72 hours was up, I kept practicing and told five people in one day. That night we had instant pizza for dinner.

It had suddenly become real, but it is going to suddenly become real 100 more times before I will know how to sit with the possibility that John is much more vulnerable than we realized, that his ups and downs are a fact of life that won't go away and could get much worse.

I am not so good at pacing myself, even though someone mentioned the concept once when John was 15 months old. I thought for a long time that we were just remediating a static, stable condition with John, until now. That's officially true, but also, I was starting to see signs of something else going on before I was even settled with the static condition (settled never happened, by the way).

The stupid 12 weeks are still not over and as you can see, I've given up and am broadcasting this now. I have been mentioning it in some settings, since before this blog started (it started in the middle of the trial). I was mentioning it, to try to get situated with it. It sort of works (that means it doesn't work, well, a little). I have some other ideas about getting comfortable with this that I'll write about if and when they happen.

I wish I could step out of the administrator's position for a while. I wish I could blow off all the therapy homework and halt all the helpful processes I initiated and now have to keep up with, fight for, or make decisions about. I wish I knew how to just clean my house and play with my kids and that's all (though we have rented two Eddie Murphy movies so far during the med trial and I have never, ever rented a comedy and only a few non-kids movies in my life, so that's a step). I wish that when John has a cold, is slurring his newly acquired speech, and his muscle tone is like Raggedy Andy, that I could just enjoy snuggling instead of enjoying snuggling while being scared and sad. But that wouldn't be complete.

John has a great attitude: he's been low energy for a week and feels like a gummy worm to me but he still constantly asks me to find a new toy for him to play that's fun-fun-fun. Tonight when we were about to go to sleep, he did something new again. You could tell it was a huge effort, and he did it with his Baby Bop doll bouncing on his knee. He recited the entire chorus of Baby Bop's song that is repeated through more than one Barney video: Look at me, me, me. I'm three, three, three. I'm as happy as can be, be be. Can you tell? Can you see? I'm a very very very happy me!

He's four, not three, but that doesn't take away from the performance at all. He really embodies the song.

I know all that stuff I wished is possible. Well, maybe not stepping out of the administrator's position, at least for long. But it is the way we do things, not the what we do. I know there is a way of being (that I don't have to attain perfectly) that will allow all this to exist at the same time, where there is no right answer, where as long as we keep showing up we are doing just fine. The impossible-looking easy paradoxical magic is getting from that knowing to the actual being.