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post #21 of 66
sbgrace- thank you for your heartfelt reply. your words are my thoughts exactly with my daughter- trying my best to make every day count. what an exhausting way to live going through life worrying and wondering.

I will definately push my ped. to do test for metabolic screening. how invasive is a muscle biopsy? what does it entail??
post #22 of 66
Quote:
Originally Posted by sbgrace View Post
I don’t know that I would pay for a consult—though I guess if you had all the labs they initially run it might be helpful. That is expensive and I imagine insurance doesn’t cover? If insurance covers it I probably would…assuming you’ve probably already met your max. amounts this year or will once you get biopsy stuff.

Our molecular geneticist here in Indiana refers his patients to Atlanta for fresh muscle biopsies. So maybe your doctor could set up to send you some place for the biopsy.
To be honest, I'd feel better about being at one of those centers anyway--anesthesia is riskier for metabolic and especially (maybe) mito kids and you know these people are going to make it as safe as possible.

The skin--there is a 50% chance Cleveland Clinic can find mito in a skin fibroblast. What I decided to do was skin first--we're testing for fatty acid and CPT disorders as well as mito--and then face the muscle if we don't get our answer that way. The doctor sent his skin to Cleveland to look for mitochondrial (and other places for other things…I guess a bit of skin goes a long way). Skin biopsy is not pleasant of course but no anesthesia and no real recovery time other than wound care.
I'm going to do some checking. I have a friend who lives near Atlanta and her dh works for an airline and it's possible I could get cheaper airfare.
post #23 of 66
OK, so the organic acids test... it was sent to great plains lab, i'll just put what was out of their reference range.

Oxalate related- Oxalic acid 51.77 (ref 0-37)
Fatty acid metabolites- Suberic 3.49 (ref 0-2)
vitamin indicator- ascorbic acid 2.06 (ref 10-200)

thoughts?
Mamaverde here already pointed me to a trusted genetics/metabolics dr not far away... we can get in for Dec
post #24 of 66
so my3peanuts or sbgrace, does that mean anything to you?
post #25 of 66
Thread Starter 
I'm sorry for missing that message. Ok, first I'm sure you'll be in good hands in December. I know it is hard to wait. Do you have a doctor who will run tests? What you actually want is a urine organic acids that is sent to Kennedy Krieger. Great Plains is different. That said, Suberic would be related to I think MCAD (medium chain fatty acid). The thing is that I imagine any newborn screening these days screens for MCAD. The other two aren't the kind of organic acids I would see on the screens. Also, you can have a normal urine organic acids and still have something wrong. So maybe you'll want to wait until December. If the doctor thinks it is safe that first round of tests are normally fasting ones but I fasting isn't safe for all kids.
post #26 of 66
The only thing I know about oxalic acid is that it's a dicarboxylic acid. That doesn't really help much, I realize. I also found that too much oxalic acid can cause kidney or bladder stones.

Yeah, the suberic acid is a medium chain fatty acid. Although, I don't know what it's presence alone suggests.

Sorry, I'm really not of much help. If I come across anything I'll let you know!
post #27 of 66
a couple of "stupid" questions.

Can the blood tests come back within normal limits or like a fraction of a point below or above normal and there still be something wrong metabolically?

I live an hour away from Atlanta. DD's neurologist is in Atlanta. So who exactly in Atlanta are you talking about?

Who would do the muscle biopsy if it came to that? Would a biopsy be appropriate if all the other tests come back normal or slightly elevated? Can tripleptal elevate levels?

What are the risks of the biopsy?
post #28 of 66
Quote:
Originally Posted by Kodama View Post
a couple of "stupid" questions.

Can the blood tests come back within normal limits or like a fraction of a point below or above normal and there still be something wrong metabolically?

I live an hour away from Atlanta. DD's neurologist is in Atlanta. So who exactly in Atlanta are you talking about?

Who would do the muscle biopsy if it came to that? Would a biopsy be appropriate if all the other tests come back normal or slightly elevated? Can tripleptal elevate levels?

What are the risks of the biopsy?

Yes, blood tests can come back normal and the child could still have a metabolic/mitochondrial disorder.

Dr. Schoffner in Atlanta is very good. There may be someone else but this is who I've been referred to.

As far as the muscle biospy it depends on fresh or frozen. I think sbgrace said only Atlanta, Boston, and Cleveland use fresh. You'd have to research the difference, I don't know much about that.

There are a lot of tests that can be run before doing a muscle biopsy. Do you mind me asking what results were slightly elevated and what your child's symptoms are? That would help in determining the possibility of something metabolic.

Risks of the biopsy are the same as risks for anything under general anethesia and then risk of infection, things like that. Again, I haven't looked into this much, although my son will be having this done so I need to!
post #29 of 66
Thread Starter 
http://www.umdf.org/mito_info/diagnostictesting.aspx
This site gives a list of typical testing. You only do muscle biopsy if there seems to be enough reason to conclude you will get a result. So you do other tests first. At Cleveland if you have symptoms that indicate that mitochondrial disorder is possible (you can test unlikely based on symptoms in which case they tell you to relax I guess!) you do all the first and secondary tests listed on that link at the very beginning under a fasting situation. That is if fasting is safe for that patient...it isn't for all. Then based on that and symptoms they give you a scientific probability you will find mitochondrial disorder with muscle biopsy. This gives you an idea of whether the risks are worth it/you are likely to find something. We did a skin biopsy and may do some DNA next...trying to avoid muscle if we can. That is because my son doesn't do well with anesthesia.
So I don't know a lot about muscle biopsy as we aren't there yet. The main risk is anesthesia. At those main centers (Cleveland, Atlanta...and I'm not sure where the third is) they should do everything possible to make the anesthesia as safe as it can be for a particular patient. Those centers do fresh muscle. At Cleveland anyway, fresh has a 90% rate of finding mitochondrial disorder (missing 10%), frozen has a 70% rate (so missing 30%) and skin biopsy which doesn't involve anesthesia has a 50% rate. My thinking personally is if we decide to do muscle I'm doing fresh. I can't see putting my son under anesthesia for a 70% find rate when I can do it fresh and find 90%.
post #30 of 66
Thread Starter 
I didn't know oxalic was a dicarboxylic acid. dicarboxylic acid is a mito marker--likely a marker for other metabolic things too I'm sure.
post #31 of 66
Quote:
Originally Posted by sbgrace View Post
I didn't know oxalic was a dicarboxylic acid. dicarboxylic acid is a mito marker--likely a marker for other metabolic things too I'm sure.
That's what Mr. Wikipedia says anyway.

Funny how my son has dicarboxylic acids in his urine and yet our neurologist says he "doesn't show signs of a mitochondrial disorder".
post #32 of 66
hmm, ok thanks guys. I wonder if this is the road where we'll finally find something.

re: fasting, my guy's most amazing, clear, happy days were the times he's fasted, and then the return to eating showed a steady return to normal. turns out his immune system is reacting to every freaking food they tested, the Dr who found that told me, if we didn't ever have to feed him, his development might have been fine! There's been no explanation why his immune system would do that. could these sorts of disorders trigger immune hyperactivity?
because of the allergy test he's on a very limited diet, eating only the things he is "less allergic" to. And now that they're gone, any little infraction gives him hives. Ok, what a tangent! it could be totally unrelated, but have you ever come across mention of over-production of immunoglobin? the allergists we've seen just shrug.
post #33 of 66
Thread Starter 
I've not read the hyper-immunity thing. However, my son's clearest days seem to be fasting too...he's so with it (say he's sick and barely eating). In my son's case, though, it is likely because his body can't handle the breakdown by-products of certain thing (fats likely) so they build up yucky stuff in him. At least that's what it is looking like. I really don't know! Carnitor at the start anyway seemed to make him clear as if he were fasting. I don't see that now..so I'm not sure what to think.
post #34 of 66
more questions!

I am reading Dr Stephen Gislason's Core Diet for Kids book --

http://www.nutramed.com/children/index.htm

and am in the process of trying to tweek my daughter's already crazy GF/ CF/ Egg free/ everything free : diet. I wanted to start at the beginning of his recommendations with his Alpha Nutrician Formula since we haven't really been able to find Anything that the poor kid can eat. But since it well seems like she may have a metabolic disorder I just thought I'd see if you guys thought it is a safe approach. I don't want to screw her up worse-- the poor thing! :
post #35 of 66
Thread Starter 
Well, I could only find nutrient values not ingredients. But for mitochondrial patients anyway there is some indication that free glutamic acid (glutamic acid, glutamate) might be harmful. In general, free glutamic acid is a neurotoxin in some measure for everyone. Any protein powder has that too, it isn't just this thing, as would any formula. So I'm not saying it is the worst thing ever necessarily but I think I'd stay away until I knew what I was dealing with...I know that is not what you want to hear.
I've got a lot of experience with dealing with food allergies--I know how hard it is. I make drinks for my boys.
post #36 of 66
yes, i don't want to do more harm than good. hopefully some more testing will point us in the right direction in terms of what we are dealing with. just found out that a lot of kids in my town are having lots of autoimmune issues... taking a second look at my tap water? (anyone know of any inexpensive independent water testing worth trying?) ... so I really don't know what is going on with her. it seems to me the most logical thing is that her body is not deriving enough energy from her food to provide enough energy for her muscles to function properly. I don't know if it is an autoimmune issue or a metabolic issue or perhaps they are so interjoined it is both. Also, I was very hypoglycemic when I was pregnant with her and I notice when she hasn't eaten her muscles get much limper so maybe it is a blood sugar issue too.

a box full of issues- that's us.
post #37 of 66
So I can find this quickly later. Some really interesting stuff here, considering a lot of symptoms overlap with both my kids' concerns and with my fibromyalgia stuff.
post #38 of 66
This is an amazingly good information.

Can we make this a sticky? How do you go about doing that?
post #39 of 66
Rheumotological diseases and mitochondrial diseases have a LOT of overlap in symptomology.
post #40 of 66
Thread Starter 
Katie asked me to bump this thread.
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