metabolic disorders- HELP!

[jee'smom]

my dd (2yo) has little things wrong with her, here and there. each separately is no big deal, but all together... i'm afraid something's really wrong with her. someone suggested i come on here, that there were knowledgable moms here. so, tia for any help!

she has hypotonia (low muscle tone), weird involuntary movements of her arms/hands and legs/feet, screams alot/irritable (could she be in pain?), has egg allergy, hips click when i pick her up, arms slip out of joint (nursemaid's elbow), had a couple of white hairs, short stature, low weight (5th percentile), genetically has a high risk of celiacs- but blood testing revealed does not have it (we all know that's not full-proof though!), sometimes can't stand being touched. i can't think of anything else.

i'm sick of going to speciallists (a neurologist for this... a GI specialist for that...) i wish someone could put all of the puzzle pieces together. someone suggested a metabolic disorder. could it be? who should i see? a geneticist... i'm so confuseed and sickened at this whole thing. i feel like there's something wrong, but i have no clue what.

thank you for ANY info that may be helpful to me and my baby girl!

[sbgrace]

Yes, I think she has enough to think metabolic condition.
Here's a link I made about signs of conditions. http://www.mothering.com/discussions...d.php?t=734501
Ehlers–Danlos syndrome is another condition I don't talk about in that thread that affects joints/connective tissue. Ehlers-Danlos Information

Hypotonia causes
Here are lists of others. I give them because, in our case, I figured out what my son likely had by looking at conditions and their symptoms. It just jumped out at me.


Where are you located? Mitochondrial area is something you might want looked at and there are few doctors who can do that for you. If you have a cooperative doctor you can run initial labs and see if you catch anything. I think you need genetics/metabolics type people though because you've got an awful lot going on that could go in many directions.

[DoratheExplora]

sbgrace: what steps did you take to get a dx?

[sbgrace]

In our case when Andrew was three I was searching for something that explained all his "unrelated" issues. He had also been getting considerably sicker over the 1.5 years prior to that point and I was very concerned but doctors weren't helpful here and none of the doctors we saw ever mentioned metabolic. So I was looking and ran across mitochondrial disorder information and I just knew that Andrew must have that or something like it. So I called Cleveland Clinic because I knew they were one of the few mito places. They got us in quickly. The Dr. there agreed he had lots of mito signs and ran initial labs. We got back home (we had to travel to get there) and the next day had a call from that Dr. because the few labs he had back quickly were very abnormal.

We made an appointment at our local children's hospital for follow up testing. Meanwhile Andrew got sick and was hospitalized (unrelated to mito) there and genetics took us on at that point since we were admitted. It all moved pretty quickly from there. He had a skin biopsy and more labs. All had findings that ruled out certain things and made other things possibilities. So we have a range of secondary diagnosis now and a suspected primary diagnosis of mitochondrial disorder. And he's on what they call the mito protocol which, together with diet changes, I think literally saved his life.

Did that help at all?
It was me, initially. I found the information and took him where we needed to go to get answers. I don't think that parent pushing is at all uncommon in metabolic stuff, at least in certain areas. I do think us finding official answers so quickly after we started testing is unusual/we were lucky in that respect that he was so sick at the time those tests were drawn.
He's doing so much better now.

[DoratheExplora]

Thank you. I will check out Cleveland clinic.

[jee'smom]

wow. thanks for all of the info. my friend actually told me to pm you, and your'e the one who answered my questions. so thank you!

everyone who meets my dd says that nothing is wrong with her. she's rarely sick, is advanced developementally- in all areas, physically, emotionally, socially, etc. yeah, she's in the 10th percentile, but so am i (5'2", 114lbs.), her elbows have been pulled out of socket two times, but that happens to little kids sometimes, the only thing that is "off' about her, that's noticable, is the weird involuntary movements that she makes sometimes (like how infants move their arms and legs when they're excited), and her hypotonia. but i always thought that she screamed too much (she's my 3rd child). i always thought that maybe she had celiacs or something. idk...

i live in the poconos. how can i find a mito doctor near me?

[momtoalexsarah]

Sorry to hijack here, but can Mito be found in conjunction with other chromasomal disorders that cause strutual anomilies
Megan has Cleft palate and midline facial clefting - they think it is chromasomal in nature (22del is the prime leader but her tests are negative) She also has a number of symptoms that fit in the Mito camp.
I'm almost wondering if we should be looking at the clefting as isolated and then looking at Mito as a secondary condition .
Here is the list of things that make me wonder
Autism like behaviors - but tend to be intermittant - not always there
Regressions developmentaly (speech, and gross motor) with illnesses - will regess 4-6 months in a matter of a week with a seriose illness - and takes 4-6 months to gain it back.
Mild hypotonia - mainly in the limbs
fatigue - she can go like crazy for short bursts, then just crashes - can't walk long distances (not as long as a normal 3yo) - especaily when ill - even a minor illness
Loose joints - we've had nursemaids elbow with her so many times that the ER doctor showed us how to pop it back in to save us the trip in.
Failure to thrive, wheat intolerance (with negative celiac blood test),
GERD as an infant/toddler but that was mainly a structural thing we think because of the cleft palate.
Immune difficency on testing (mild but present) multiple antibiotic resitance,
Frequent upper resperatory infections that she has difficultly clearing (weak coughing - hypotonia maybe? - but only when ill)
The strange thing that makes me wonder about Mito is that the regression and hypotonia are much worse durring an after an illness - even somthing as minor as a cold/ mild tummy bug.

Thanks
janice

[sbgrace]

First I want to repeat that there are other metabolic causes for hypotonia and the like outside of mitochondrial. The link I put above has a section with red flags--those are flags something metabolic might be going on. A hallmark of mito is that it always affects multiple body systems.

Doratheexplora. I know from your other thread you're in a tough spot time wise right now and it is going to take a while to get in anywhere metabolic testing wise I suspect. There are other options besides Cleveland depending on where you are. I believe Cincinnati might have someone good now (mabye) for example. Houston has someone who has a great reputation. Parent2parent mito board might have people who know of those in your area. In your place I might think about taking precautions as if mito is a possibility--especially avoiding lactated ringers in all IV's. For our son they put him on IV solution while fasting and used certain anesthetics. But as I said both my kids did ok with anesthesia before we knew anything. Andrew did have trouble waking up and I do think it was part of a series of triggers for regression in him. But it was not solely the anesthesia and he did not have a crisis of any sort with it.

Keri, The only people I know of reputation wise are Cleveland, Indianapolis, and Houston. The Houston person has a wonderful reputation. Cleveland is good with mito specifically and I had a good experience there. Indiana doesn't typically do traveling people and it takes a long time to get in but I think the doctor there is very good with exploring all possibilities, not just mito. But there are other doctors. Those are just the ones I know about. I know that Mary here is seeing someone in the east coast. I'd suggest you ask on the parent2parent mitochondrial board for recommendations. If you don't get information there you can also try a mitochondrial yahoo group. Who you see matters very much. Even with dramatically abnormal labs we saw someone in the course of all this who said my son was fine and to stop worrying. You really have to see someone who knows mito when you're considering that possibility. People usually have to travel. I know Houston does distance records reviews or did. Sometimes people use angel flights and similar programs to travel for these things I believe.

Janice,
I know of kids with chromosome disorders and also mitochondrial disorder. I don't know the genetic connection if any (though I would assume they are connected). If I suspected my child had mito and was symptomatic I would pursue that no matter the other dianosis I was dealing with. Unlike most genetic disorders there is some measure of treatment (not cure type treatment but treatment to try to slow and prevent damage).

[DoratheExplora]

sbgrace:

Thank you. What is a lactate ringer?

[sbgrace]

My understanding is that all surgical IV's contain lactate. And kids with mito tend to have issues with high lactate. One of Andrew's doctors listed lactate as toxic to mitochondria. I don't really know the mechanism. You don't want to pump it into a body that can't handle it. You don't know that your child has an issue with it and both my kids had surgeries with lactated ringers without issues before we knew. You can list lactated ringers as an allergy in his records. That's how it is listed with Andrew. I hung a sign on his IV pole too as well as talking to the OR people.

I wouldn't assume there are going to be any problems with anesthesia. You don't know that he has anything underlying and even kids who do have something that makes anesthesia risky generally do well.

With both my boys (we've had three surgeries split between them) I was scared. But I told myself that tons of kids go under every single day and come out without any problems. Statistically you have a much greater risk of injury or death driving to the hospital than you do under anesthesia--even if there is something underlying.

I think the biggest risk for your son is keeping his blood sugar stable during fasting prior to and surgery. And that is something they should be able to help you manage/shouldn't be hard to do. Have they talked about the plan for that?

[jee'smom]

i can't even imagine anyone seeing her/taking me seriously. the pediatric neurologist said "she has involuntary movements. sometimes kids have them. then they go away." and "she has hypotonia, but some people have that." and i'm like "this is not normal!"

he asked me if i wanted to see a geneticist. should i say yes, and take it from there. just to get some tests done?

[MotherWhimsey]

in our experience, geneticists and Mito aren't a great combination. We have a blood DNA confirmation, but even with the positive muscle biopsy before I got the blood results, our geneticist didn't think he had Mito because he's "too smart." And this is a great children's hospital that wants to start a Mito clinic and Mito is this guy's specialty (YIKES!). I've heard similar stuff from others about their local genetics clinics. I'm looking very forward to telling him where he can stick the blood results since he was such a patronizing ass about it.

[jee'smom]

how do you know your child has a mito disorder? what was the confirmation? i guess i'm a bit confused as to what all this involves. thanks for any info. also, if anyone wants to share their treatment (although i know they're all different), and if the child got bettter, i'd appreciate that also.

[sbgrace]

Originally Posted by jee'smom

how do you know your child has a mito disorder? what was the confirmation? i guess i'm a bit confused as to what all this involves. thanks for any info. also, if anyone wants to share their treatment (although i know they're all different), and if the child got bettter, i'd appreciate that also.

The only way you can know for sure a child has mito is if you get a positive muscle biopsy. But there are tons of tests in between symptoms and muscle biopsy that give information that make mito more or less likely. In addition to mito look at the links I made in the post above--number 2 post on this thread--and see if anything looks likely to you. If it does then you see someone with a good reputation in that area. So when I looked at lists about mito it sounded like my kid so I went to a place that knew mito. Outside of mito you go to whomever is good in that. In many disorders testing is far less complicated and invasive compared to mito. Many things are diagnosed with a simple skin biopsy for example which requires no anesthesia or recovery beyond a little scar. Other things there are blood tests. The UMDF website I think listed in one of the links I posted above talks about testing and treatments for mito. http://www.umdf.org/site/c.dnJEKLNqF.../Diagnosis.htm Link for testing information
http://www.umdf.org/site/c.dnJEKLNqF..._Therapies.htm Treatment information.
My son did respond. He feels so much better than he ever did before. There are better treatments for some conditions than for others. Outcomes for some conditions are also better than for others.

[MotherWhimsey]

we had a positive muscle biopsy, muscle mutations, and then we did the mtDNA testing to confirm the diagnosis and actally got a diagnosis of two different types of Mito: Primary Respiratory Chain Defect and Wolfram Syndrome. His respiratory chain defect is a complex I, II, and III deficiency.

The positive muscle biopsy is usually enough for a probable diagnosis (it fufils minor chritera for diagnosis) but the DNA results are the best way of knowing exactly what it is.

[jee'smom]

wow. thanks so much guys. really.

[JaneS]

I've been looking into hypothyroidism very intensively lately and wondering about the connection with mitrochondrial disorders. Has anyone a family history or thyroid symptoms that are dealing with this type of condition?

From Dr. Starr's, "Hypothyroidism Type 2"

Thyroid hormones are responsible for our metabolism. When thyroid hormones are given to animals, trillions of mitochondria increase in size and number. The total membrane surface of the mitochondria increases almost directly in proportion to the increased metabolic rate of the whole animal. My medical school textbook, The Textbook of Medical Physiology, states: “It seems almost to be an obvious deduction that the principal function of thyroxin [thyroid hormone] might be simply to increase the number and activity of mitochondria.”

Lots more in his book.
http://www.21centurymed.com/?page_id=12

[sbgrace]

Jane,
I'm not sure what you're asking? Did you want to know if thyroid issue/low thyroid hormone are a feature of mitochondrial disorders? Not commonly/typically to my knowledge but Mitochondrial disorders have a wide range of outcomes. Mito can affect any part of the body but thyroid is not listed on the umdf.org site as a common finding. http://www.umdf.org/site/c.otJVJ7MMI...e_Symptoms.htm Mitochondrial disorder is a genetic/DNA mutation so thyroid wouldn't be a cause if that's what you were thinking. It's more like PKU (not in symptoms, progression/way it develops, control, or outcomes but in the way to think about it as an inborn metabolic disease).

Or were you thinking it might be a treatment option if someone with mitochondrial disorder was also low thyroid?

Or are you thinking those with thyroid issues might also benefit from mitochondrial support? Or that the natural decline in mitochondrial function as we age might impact the thyroid in those without this disorder? I actually think thoughts along these lines may well have merit and warrant investigation. I've seen use of coq10 in hypothyroid and coq10 is "the" mitochondrial treatment. I think in time we're going to find that mitochondrial function has a "play" in many disease processes as, in fact, normal mitochondrial decline is our aging process. But these are "everyday" people. Actual Mitochondrial Disorder in a person is another thing altogether, you know?

I'm going on little sleep and I may be missing your thought process on this altogether. I'd love to know what you're thinking though!

[JaneS]

Well yes, now I am thinking about all those things. And you described them much better than I did.

I'm wondering if those that have Mito Disorder might also have problems with their thyroid function as an underlying or contributing cause. They may have a peripherial resistance to thyroid hormone or genetic mutation in thyroid receptors not shown in typical thyroid blood tests according to Dr. Mark Starr's book, which may influence mito function.

Given how vital the thyroid seems to be for mito function, is it being missed? His book describes how he was dumbfounded at a conference for mito disorders that the thyroid wasn't even discussed.

Is thyroid hormone a treatment option for mito disorders b/c on the surface it sure seems like it could be.

And yes, I'm also wondering if those with thyroid disorders would also benefit from mito support. I've only just begun to research nutritional support of same. I know there are different kinds of CoQ10, do you know the best one?

[JaneS]

Oh and my original question was supposed to be: I'm wondering if there is a family connection to thyroid disorders or if the mamas or children on this thread have symptoms of thyroid malfunction as well.

My sleep and stress have been inverse of optimal lately too thanks for being patient with me butting in.