Saturday, April 16, 2011

Rethinking things

So our youngest son's latest trick is developing white stools. But then they went to light pasty yellow and then to light brown. But because he doesn't have a lot of bowel movements, the first white stool we noticed, I decided to check in with the doctor. I wondered if it had to do with going up on the Miralax added tot he fiber, if maybe it made the change in his stool.

The nurse actually told me they don't like white stool and told me they send children to the ER for this because it could mean a problem with the liver. I told her he didn't look yellow at all. She told me that was good, but it was still what they recommend with white stools. I then also told her that he was not complaining of any pain, and was his normal (low energy) self. Her reply was that if I wanted the doctor to tell me the advice, that was fine, and he would be calling me later. I realized that she was more aware than I was. I didn't want to hear ER and so I was just making sure to justify why that was over-reacting. To which she persisted, but knew that it wasn't going to help me hear what she was saying, and figured it was a task for the doctor to take up.

So I just went about my day, watching toilets. I had already arranged a girl's night out with a friend new to grief, and I really felt I could use that time out with her. My son who died would be ten today, so I was thinking a lot about him. I was thinking a lot about how after so many years, it's still unclear why he died.

While I was out, my husband took everyone else for a fun trip to eat out. And that's when the doctor called. He left a message, saying exactly what the nurse said - that if we saw white stool - like sheet white (and I would say it looked like white chalk - definitely white and my husband saw it, too) to take him to the ER. Well, when we finally got the message, it had been nearly twenty four hours since he had that white stool. I had him sit on the toilet for me and do his best to get something out, which he got about what you'd think of when you squeeze your toothpaste onto your toothbrush out. And it was a very pale yellow. But it was not white. Then we had him go again, and this time he was able to get out a little more, and it was light brown. SO we justified that because he wasn't having them now, it is okay to just watch him.

Then I stayed up much of the night wondering if we did the wrong thing. Maybe I should have taken him to the ER? Well, today is my son's birthday - the son who died. So it puts a lot into your mind. We thought he died from infant botulism. Then I was just going through my mind about things, and maybe he really did just die from botulism and we're trying too hard to make it mitochondrial disease because we can't explain everything else with our kids. And then there's the reality that we have also had another child die, and she did not have botulism but had episodes just like her brother had.


Well, going out with Michelle also put a lot of things in my mind to think about. I really still am so sad. Today it is seven weeks since her little Maggie died. She is taking her son out to Atlanta for testing because they are watching symptoms he has and thinking he also may have mitochondrial disease. Maggie struggled for about two years before her trip to Atlanta finally revealed that the cause of her struggles was from mito. It was good to talk with Michelle about her insights and experiences with the same doctors we've been going to. I couldn't help but to begin wondering if I'm doing the same thing I did on that phone call and just refusing to hear (without really consciously doing it) what I'm being told because it sounds too scary. Should I be trying harder to find a diagnosis?

But then I feel like we've tried. We've tried really hard. For the six days Dominic was in the PICU, they did all sorts of tests, including extensive genetic work-ups. Both Dominic and Bridget had muscle biopsies and skin biopsies. The whole week Bridget was in the PICU, very very extensive testing was done. And they both had autopsies.

Which again, makes me so confused. Because Bridget's autopsy lists the diagnosis with some medical terms then says "suggestive of a Leigh-like syndrome. Metabloic gliosis"

It then goes on to explain under "Discussion" how Leigh or Leigh-like syndrome affects someone, and how her history is all consistent and the autopsy findings are consistent. But. It also points out that there are things that make "the exact nature of the underlying defect... difficult to elucidate" and so "a precise diagnosis can not be made with certainty" Then it goes on to point out that "there are several abnormal findings consistent with an underlying metabolic encephalopathy. Specifically, many of the findings seen in this case are suggestive of Leigh disease (subacute periventricular necrotizing encephalopathy) or a similar syndrome."

Dominic's autopsy revealed nothing. But there was not an extensive autopsy done, as it was done at the Medical Examiner's office. And honestly, no doctor has ever sat down with us to go over the autopsies for either of my kids.

And we have done lots of testing for the rest of us. One thing that you usually see with mitochondrial disease is elevated lactic acid. Well, that is one thing that is always normal (with the exception of the two who had their crisis events - their lactic acid was high, but who knows if it was part of the cause of their events, or a result of their events). Almost all the other test for "makers" for mito also seem pretty normal. There are some slight things here or there that aren't really right, but overall things are okay. Even with Dominic and Bridget who did have some basic labs done before their crisis events happened, there wasn't anything alarming in the test results.

So I go in circles. We're over-reacting, thinking there is some underlying medical problem with our kids because their siblings died. Then realizing, "wait, their siblings died!" And then obviously, something was wrong with them (even though no one thought anything that wrong was up with how "well" they were doing at medical check-ups). And these kids are doing some of the same things their siblings did. And maybe if I don't figure this out fast enough, they are going to die, too!

Here's the thing. If your child is not really sick, they have so many patients that they need to focus on the really sick kids. And when they've done all the testing they can think of and don't come up with anything, they don't feel inclined to spend more time when they have really sick kids to take care of. But on the other side, because we've had really sick kids, who suddenly became really sick when it wasn't expected, the pediatricians and general practice doctors are too nervous to take care of your not really sick kids.

So you end up falling in the cracks of medical care. Too complicated for the general practice, not complex enough for the specialties. And though we have visits with them all, we go in circles. We get no where. And even if I really wanted to be aggressive in finding a diagnosis, unless you have the medical community helping you, you just can't do anything more. It is what happened to Dominic and Bridget in a way. They fell through the cracks. They weren't sick enough for anyone to think something serious was happening. So when I begged and pleaded for the doctors to see what I was worried about, they just didn't see it as anything more than a paranoid mom... Circles...

I am going to keep rambling. Somehow, I just need to do this because it's hard to have a son who'd be ten years old, who died at five months and we still are unclear about why. And his sister died over three years ago, and we still don't know why. And their siblings are doing things that concern us.

When Michelle was here, she was showing me some photos of Maggie. Well, I don't have permission to post any, and I won't. But I will post a photo I found today while going through some of my son, Dominic, who would be ten. And a couple of my youngest. And one of Bridget.I know you aren't supposed to compare. But I saw a picture of Maggie and it reminded me of how my kids have the deviated eyes in their episodes, and I hadn't even remembered that about Dominic, but then I was the photo. I didn't take a lot of photos with him because we still had a film camera. I don't have any video of him. But I have video of Bridget, and I have video of my youngest having the exact same episodes, and the neurologists saw them and think they're abnormal. But again, those tests. The EEG really didn't show seizure activity on my youngest. It showed rare peaks and some slowing, but nothing else. The neurologist told me that it was either frontal lobe seizures or deep in the brain seizures or encephalopathy. But... let's not go in circles.

I'm sure if anyone has read all the way through this they feel a little dizzy. But that is how I feel all the time. Because it's only a brief glimpse into how I think and think, and rethink everything. Wondering how much we should be doing, how much we shouldn't be doing.

I admit, it terrifies me to read news like this. Because the medical world has made all sorts of advancements, parents are now liable for failing to utilize all the medical technologies available? I honestly read that case and feel I can understand how a loving mother could have kept potentially (and probable) life-saving medicine to her child. I don't know that I would do the same thing, but I can't say I wouldn't have.

I feel cheated, because really I was raised in this society that does have all these medical advancements. If I hadn't been through all we have, I would probably have been on that jury and thought it unconscionable to have withheld the almighty treatment that certainly would have saved this child's life! How could a mother do such a thing! But then, my trust in that same all-saving medical community died with my children. What I used to believe, that doctors have the answers and that when things go wrong, although they don't have all the cures, they can at least tell you what to expect before you have to face it. I used to think that the ones who died were the ones who didn't get in fast enough, waited too long... But it isn't true.

Doctors are people, too. And we still have a lot further to go to really know what we right now only think we know. And then there will still be new discoveries to be made, and we'll look back and realize we didn't really do as well as we thought we did.

And that's why I'm rethinking it all. I don't know if I really did as well as I thought I did. And I hope I do enough now.

1 comment:

  1. Happy Birthday Dominic (((hugs))) Your posts are always interesting to read. Youre so right about Drs. Jack was misdiagnosed twice, in his case, the 2nd diagnoses was that they just didnt want to look further. There was plenty on Mito and I even begged for them to look into it myself BUT both his Nuero and Nueromuscular Dr refused to consider it. It was in their mind, he just wasnt "sick enough". My gut was telling something else. As for the stool, glad it returned to the right hue! I hope its nothing, hugs and always prayers for you and your family-
    Heidi & Jack