Tuesday, May 11, 2010


I've been silent lately on this blog. For weeks at a time. Explanation: another medical roller coaster ride has begun. This one started around the time the snow fell in DC, that is, in February, and the cart has been picking up speed ever since.

I've also been working on a big, extended-play writing project, which sucks up my energy for brief lyric meditation. And continuing, in my usual hit or miss, do-I-really-have-the-time-for-this, disorganized fashion to send out poems. Poetry manuscript--nope, not happy with it again--ever the fickle relationship. I don't even remember where I've sent stuff most of the time. This is not good.

Oh, yeah. There's my actual job at my actual office. Right. Yes. Money.

And baseball season started.

But the medical roller coaster. That's the relevant part. And I'm feeling a little dizzy, I've got to say.

We had a disagreement with Robert's neurologists back in January or February. I forget exactly when because it happened in virtual space/time, which is to say, by email. The problem with neurologists is that they are narrowly focused. The good thing about neurologists is that they are narrowly focused. So, take your pick.

This time it was the bad thing. There's been a suspicion that Robert has a mitochondrial disease or component for a while now. Say, a year or more. Doctor's apparent perspective: that's an interesting thought, maybe we should consult with someone. My perspective: a clue! a clue! let's do something about this!

It might be more accurate to say that I started to see this as though I had discovered the missing link. Response from doctor: perplexity at my attitude.

I've been at this for 12 frigging years. Diagnosis, that is. We go through cycles: fear, discovery/tests, more fear, drug trial, apparent stabilization of symptoms, apathy, mystery symptoms, consultation, new doctor, back to fear. For a long time, it was easy to live without a diagnosis because the alternatives were too horrifying to contemplate. Yes, I'm talking to you, Kurtz.

I learned to live with it. Adapt. Ignore questions. Stonewall teachers. Think outside the box. Live outside the box. There were always questions from other people, and, frankly, I had no answers. Most of the time, this is fine; there's a steady state. But a few weeks ago, I lost it when the school nurse called me and described some movements Robert was making that she had never seen before. And she's looking to me for answers? How the hell do I know? I would ask one of our doctors, but they wouldn't know either.

When I filled out a long, general intake form for the Cleveland Clinic last week, one of the questions was, "What do you think is the matter with your child?" I wrote, "If I knew, I wouldn't be coming to see you."

Why are we going to the Cleveland Clinic? Because apparently that's what's next. These events kind of present themselves to me. I don't go in search of them. We tried that. It didn't work. Because if you don't know what's wrong, it's hard to google it.

I could try to understand organic chemistry, neuroscience, intermediary metabolism, in which all the words seems to end in -ate and -ase, but I doubt it would do me much good. I'm not going to understand it because it takes years of training. Money and schooling, too.

Which leaves me, I know, at a disadvantage with Robert's doctors. Until they get to the place where they don't have anything more to add (because they don't know), but they don't want to tell me. Then they just want me to bring Robert back in a year. And then, sometimes, I blow up. Because being blown off is something I understand.

Once, early on, Robert saw a neurologist who understood that no one does any favors for a patient by continuing to see him when a doctor's best resources have been exhausted. That was Dr. Crawford. And the answer to that dilemma is a referral.

And I called Dr. Crawford when I got blown off by Robert's neurologists at Kennedy Krieger. We hadn't seen him in seven years. But he reviewed the latest reports of Robert's medical file, called me, and we chatted. He can't help. As he would say about so much else upfront--he's not an intermediary metabolism guy. And neither, he noted, is the neurologist we'd been seeing at Kennedy Krieger. He'd recommend we go to one of two people: Dr. Cohen at the Cleveland Clinic or a guy at Vanderbilt whose name I have written down somewhere.

To be fair, the KKI doc did give us the appointments line for the Cleveland Clinic and tell us we might want to see Dr. Cohen. Not a referral, I might add, not an offer of assistance with records, introduction of the case. But the referral happened only after I got upset.

The kernel of the problem is that she started Robert on biotin, which made dramatic improvements in his g/i problems and ameliorated some of his neurologic symptoms. Then she had us try a generic metabolic cocktail. Which made him rigid. So we stopped the cocktail, but not the biotin. Which she agreed we should increase, and, earlier, linked dose to weight. And Robert has been gaining weight this year like crazy.

AND THEN (yes, this is bitch day on the blog) she wouldn't write a prescription for the biotin, which we were convinced was helping multiple systems and was essential. Because she thought it inadequately transformative. She wouldn't HEAR us when we said that this was, apparently, a multi-system problem. We didn't fully understand that until he started taking biotin. She thought we should talk to Robert's gastroenterologist. Which is really the whole problem: medicine tends to be a set of stove pipe systems. And when someone doesn't have a diagnosis, it's not helpful to be bounced back and forth between specialists, each of whom thinks the problem really isn't theirs to begin with.

And we were spending over $200 per month buying the biotin in bulk from GNC when our insurance will pay for compounded vitamins if they're prescribed. But she didn't know whether compounded biotin would be viable. We asked her to check with someone. As far as I know, that didn't happen.

And that's when we got the 'come back in a year' thing and then a comment in the clinic note that we could keep giving him biotin if we wanted, but she didn't think it was helping. After noting in previous clinic notes that it was. And then the blow up via email. And then the name and number.

No one gets me this close to a possible answer and then decides they can't really make lunch after all.

In the end, of course, this has been profitable. They didn't mention it to us at KKI, but one test done there came back showing a problem with the metabolism of medium chain triglycerides. The MRI we had done was interpreted, correctly, as basal ganglia disease. And we emerged, beaten up a bit, but with a referral.

What have I been doing since making the appointment with Dr. Cohen back in February or thereabouts? I've been gathering medical records (Roger, too). I've been talking to other doctors, including Robert's primary care physician. I've been to Georgetown to hear Dr. Cohen give a visiting lecture on mitochondrial illness, which was subtitled, 'the next frontier.' And I've been remembering. Remembering what Robert was like early on, what his symptoms were, how they presented.

And then funneling all of that into energetic web surfing. Because now I have a phrase: mitochondrial disease.

These were the constellation of ailments we most feared when Robert became ill. The ones with no hope. But that was 12 years ago. Medicine is catching up to Robert and not the other way around.

What have I learned? That mitochondria are the energy production components of cells, and they float about in varying numbers in the cytoplasm--brain cells need the most energy, so are most dense in mitochondria, for example. Our mitochondria are inherited from our mothers and have their own DNA (mtDNA), but factors in the DNA in the cell nucleus (nDNA), which receives contributions from both mother and father, also affect the mitochondria. Maternal inheritance mitochondria disease represents less than 20% of affected persons. That mothers are responsible is a mitochondrial myth.

That mitochondrial disease affects multiple organ systems, even and especially the digestive tract and digestive nerves. Robert's eyes are also affected, one pupil larger than the other, but the cause of this is unknown. The brain and nerves, the gut, the eyes, the heart are the key sites. Robert has a lot of coughing, and I really hope that's not about his heart.

"Red flag" symptoms of mitochondrial disease include (per Robert): basal ganglia disease, encephalopathy, myoclonus, ataxia, neurodegeneration, ophthalmoplegia, severe g/i dysmotility, unexplained hypotonia, unexplained failure to thrive. And those are the elements we know--what don't we know about yet?

"Associated symptoms" include: short stature, chronic or cyclic vomiting.

There is a high false negative rate in mitochondrial testing. All of Robert's early tests, even with the suspicion of mitochondrial disease, were negative or normal.

The next question might be, how do I feel about this? I don't know how to feel. For starters, I have to go to this appointment on June 2nd to find out if this is, indeed it. But I won't know on June 2. I can expect more tests, more contemplation, more assessment. Maybe by the end of the summer?

So, at the level of hypothesis, I feel--or I have felt confused, regretful, worried, frightened in the last few months. Part of me wonders if we've taken any of the right steps with diagnosis with Robert--although we've been to all the best places. And the pace of medicine over 12 years--well, what they knew then is a fraction of what they know now. We are, none of us, static entities. We each have out our thumbs, hitching rides in the comet streams of the universe.

How could something have been caught for which there was no awareness at the time? He tested negative for all the known mitochondrial disorders. Then. And he appeared stable for long periods of time. Did you know that mitochondrial illness can stabilize for years at a time? I didn't. When he was stable, it looked like something else.

Where Robert is, where I am, diagnosis is not simple. Not a matter of ticking off a checklist and prescribing a medication. There's all this paper. All these tests. All these books to consult. Which is why Dr. Crawford always says to look at the big picture. To use an aphorism--sometimes you can't see the forest for the trees. Sometimes, when you set out exploring, you find trees and paths you didn't know existed. Sometimes you lose your way. Sometimes you find the clearing with the warm sunspot in the middle. But you never really know where you are until you meet a stranger who can tell you.

Or, we understand the unknown through comparison with facets of the known. The unknown is a mirror of our hopes, our fears, our expertise, our presuppositions. In this I am the same as any physician. You could say that diagnosis is the search for the right mirror. The one that finally tells you that Snow White is indeed the fairest of them all. The mirror that tells you the truth.

I would ask if it were my fault, but there's no answer for that. If I want to blame myself, I suppose I can. But that changes nothing. Maybe I'm in Mitoland. Maybe I'm not. Maybe I'll have to keep living with uncertainty. Maybe I won't. Maybe treatments. Maybe not.

The book that was popular when I was pregnant with Robert was What to Expect When You're Expecting.

I've gotten used to the idea that each advancing minute, each piece of the day or week, is like the moment of realization when you reach for the stair tread and it isn't there. The stair tread is expectation, and, for me, it isn't there.


Dale said...


Leightongirl said...

You are inside a maze, but you do keep taking turns that seems to take you further, deeper. I think the only choice is to keep going. Thanks for telling us what's been going on.

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Sara said...

I'm so glad your voice is out there, Jeneva. Such awful rowing is at least movement, even if it seems in circles sometimes. "Mom, the mess is sometimes beautiful, isn't it?" Jonah said the other day, perusing the trashed living room. You continue to make something beautiful of it, Jeneva. Keep rowing.

Elizabeth said...

For whatever it's worth, when I read your posts (however rare these days!), they're sort of a like a kick in my own ass -- a jolt of energy that knocks me out of my stasis. And it's not misery loves company but more of a recognition thing -- an "oh, yeah" -- a nod, perhaps from another boat where I've been bobbing in the waves and see, suddenly, that you've picked up your oars and are doing it again. Rowing.

Gabrielle said...

Have u done full genetic testing? This can be done at any of the mito centers and would likely vet you the diagnosis u are seeking. Cohen can do this, shoffner in Atlanta or the mito lab at Columbia in NYC. Just a skin biopsy. Hang in there

Tania Rochelle said...

Beautiful post.

jeneva said...

Thanks, everyone, for all of the support. I really appreciate it.

Gabrielle, Robert had some basic genetic testing in 1998, as well as testing for all the basic mito disorders. And a muscle and nerve biopsy, neither of which showed anything.

Dr. Cohen, whom we met in March, will probably do a skin biopsy when we're there. As I understand it, the tests Robert had 12 years ago are no longer definitive, and mito testing is much more complex than it used to be.

I am hoping we find something this time--some of the treatments we have are helpful, but I feel they could be more finely tuned with better diagnostic support.

Leah said...

Oh... parts of what you wrote are so familiar to me from the past two years. Sigh.
I hope that particular hour on that particular day at CC will be a time when you are fully prepared, when Dr. C is fully prepared, and when something truly useful happens for all of you. Please let us know what happens there.