[preemiemamarach]

So we had this Coenzyme Q10 lab outstanding for MONTHS. I got L's labs and was reviewing them this morning, and his CoQ10 is extremely low (have to dig it out for levels, but can do that later). I am not finding good data on what this could mean, so I was wondering if anyone else has had this test done, and what it meant for your kid.

Thanks!

 

[MotherWhimsey]

for us as you know it was just part of the Mito. Linden is on cyto-Q but I don't know what the other ingredients are so I don't know if Lucien can take it. It's the best and only one specifically for mitochondrial cytopathy.

 

[preemiemamarach]

this is good info, thanks- the metabolic genetics team was really dismissive wrt mito this week ('you don't want him to have mito, trust me'- well, duh, but hello, it could fit really well!). I don't think they looked at that lab. They did decide to test him for Prader Willi and Angelman, though, so we at least still have them engaged.

 

[sbgrace]

Yep, it's a mito sign. There aren't many other options (primary co-q-10 deficiency the other perhaps) for that finding at his age. He doesn't have Parkinson's and I assume he's not on a cholesterol med. Mito is left.

My co-q-10 was really low and it wrecks havoc with your body--energy, nervous system, brain, muscles, etc. I was an absolute mess. If they ignore that and dismiss mito you need to find someone else pronto. He needs co-q-10 if at all possible (epic 4 health has one we use that is soy free and they will try to work with you on allergies; that company is the only kind our geneticist uses).

 

[MotherWhimsey]

dude, I don't see how they can be dismissive of mito if he has low co q-10! That's crazy. Maybe if you guys can get his co q-10 levels up his other problems will get a lot better. That would be awesome.

 

[preemiemamarach]

got the records back out:

his result was 0.25 mcg/mL. Reference range was 0.4-1.19. I can't remember how to calculate standard deviations from the mean, but that's LOW, right?

What I hope is that nobody noticed the result- it was drawn on December 18th and I just saw it in this packet I got last night. It's about 75 pages worth of labs.

You guys are making me feel so much better. I think we're just getting blown off by the metabolics team and this adds more weight to those feelings.

 

[sbgrace]

Ignoring that level is inexcusable. You have bad doctors. No question in my mind. How sad in that he has had levels that bad for who knows how long and they could have been corrected (hopefully..I know you're dealing with lots of food issues).

 

[preemiemamarach]

I told DH about the comments you guys made and he was ready to drive up to the hospital and throttle this geneticist! I am going to call their office today and see how they justify not saying anything about his CoQ level after we just spent a week there.

I am really getting annoyed with the whole hospital- a top 10 children's hospital, but not impressing me. He was having prolonged runs of irregular heart rhythms EVERY TIME he hit deep sleep, but when they didn't catch it on the first (wide awake) EKG, everyone just said, 'huh' and ignored it. I was told that, even though he has multiple organ system issues (neuro, gastro, now possibly cardiac, immune, and a severe speech delay), 'we don't usually see diarrhea in mito kids, so that's not it'.

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[MotherWhimsey]

in our experience genetics is the most reluctant to say it's mito. We're currently waiting on our mtDNA testing and I'm hoping it comes back conclusive just to make genetics shut up. Despite a positive muscle biopsy in many different areas our geneticist (who is supposedly a metabolic geneticist) doesn't think that the amount of autonomic dysfunction that Linden has can be caused by just Mito. He says that unless a patient has DNA or mtDNA proof that it is a primary Mito, he doesn't say they have mito. Nice, huh? He says that since Linden is functional and not retarded he can't have primary Mito. The only kids I've seen diagnosed by our local hospital (not houston) have been severely affected and usually don't move, see, talk, or anything. It's like they don't even consider looking at it unless the kid is totally nonfunctional. It's just weird and very obnoxious. He said that he could explain all of Linden's issues from other diseases but he just can't explain the lack of respiratory chain function. Which is kind of like saying that a kid with downs just has a run of the mill idiopathic developmental delay except they just can't explain that extra chromosome.

Makes me wonder how many other mito kids they've had come through that didn't fit their "non functional" box and so were never diagnosed or properly treated.

 

[preemiemamarach]

just wanted to bump this with an update.

My husband called the genetics people back and read them the riot act (the fellow had 'just not gotten around to looking into it'- seriously???). The next day, the clinic called back and asked for us to come to Denver for an 'urgent meeting' with the team. They will be 'armed with diagrams and graphs', whatever that means, and suggested we not bring DS (not an option since our nanny has the flu and he is immune deficient). They now *do* want to do a fresh muscle biopsy and skin biopsy to test him for mitochondrial disease, and the head genetics guy 'has as plan of action' for our next steps.

We are really happy they're finally moving on this, but I intend to find a better (out of state) hospital as soon as we have the 'plan'. This was the same team that said his elevated amino acids and acyl carnitine levels were completely irrelevant, and that his diarrhea and age-appropriate cognition made it 'virtually impossible' that he has mito.

Idiots.

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