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#1 of 66 Old 08-20-2007, 06:12 PM - Thread Starter
 
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Andrew (my guy) has a metabolic disorder. It kills me that we didn't know for over three years. Appropriate metabolic treatment has done wonders for him in development, energy, and health. He feels good finally! I imagine there are more than just a handful of us that this impacts. There are many conditions that can affect special needs kids with various symptoms and also adults. So....


There are many metabolic conditions that might be behind special needs. Indicators of possible metabolic issues

Suspect metabolic issues if you see some of the following in your child:
1. the developmental issue is not typical (example for autism would be a child who seems at first glance to be "too social" for example)
2. any regression in development, loss of physical skills, language, etc.
3. easy fatigue, tiredness, any loss of strength or physical ability.
4. any seizure history
5. you notice changes associated with food; food avoidance; symptom change during illness or fasting
6. child doesn't consistently gain cognitive skills or learn consistently.
7. family history includes other affected siblings; history of miscarriage
8. Issues with growth
9. Motor skill delays.
10. small head or head that does not keep up with growth.
11. blood or urine abnormalities.
12. Particular to mitochondrial (more information below listing specific symptoms in mito areas): three areas of health and/or development are affected in a child. (example, child has constipation, developmental delay, muscle weakness)
No child would have all of these so if you see your kiddo in this at all I think a metabolic and mitochondrial work up is needed. Adapted from: http://www.vsan.org/rok-az/misc/Meta...Geneticist.pdf

One metabolic condition (one of many) is mitochondrial myopathy. I'm highlighting that because so many drs. are still unaware and it is one of the more common conditions.
Here is a clip about mitochondrial disorder--which can be behind special needs even when we as parents are unaware. I think the current estimated incidence is 1 in 1000. I saw a small study that found signs of mitochondrial dysfunction in 20% of those on the autism spectrum. Point is it is much more common that previously believed and is often missed or undiagnosed. **this thread is old so I edited to remove a now dead video link**

Possible symptoms of mitochondrial disorder (it would affect three areas in mito disorder--not all areas so brain may be unaffected; muscle is frequently and it seems energy is as well):
Brain: Developmental delays (inc. autism, ADD, learning difficulties), regression, mental impairment, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes. My son's pdd-nos/spectrum is mild and atypical in presentation; I found out that atypical autism is a marker for metabolic conditions--a child more social than expected for example or a child with autism and seizures or regression; atypical CP is too though I don't know what that would look like. Any regression is a sign of metabolic issues. In fact any common disease or disorder or condition with aytpical features probably deserves a look into mitochondrial and metabolic issues. Note: A child who is affected in the brain wouldn't have all of these--just one or a few; not all kids are affected in the brain.

Muscles: Weakness, hypotonia/low muscle tone, cramping, muscle pain.
My son is mildy low tone. His metabolics dr. told me that he doesn't think benign hypotonia probably exists--even in people like me--we likely have something going on. At any rate, hypotonia kids in my opinion need a metabolic work up from someone who is good with mitochondrial and related conditions--and there are limited people with that knowledge unfortunately. I say this because we could have saved my son damage had we known that his mild low tone was a marker and gotten it looked into when he was a baby.

Systemic: Failure to gain weight, short statue, fatigue, respiratory problems including intermittent air hunger. (fatigue was my son's other marker and is common in this disorder at least and some other metabolic conditions; he displayed this only as he got older and likely after damage had been done).

Nerves: Weakness (which may be intermittent), neuropathic pain, dysautonomia, absent reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems. (reflux was our initial issue with Andrew's health and his only nervous system symptom; constipation is very common in mitochondrial disorders.)

Kidneys: Proximal renal tubular wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.

Heart: Cardiac conduction defects (heart blocks), cardiomyopathy.

Liver: Hypoglycemia (low blood sugar), liver failure.

Eyes: Visual loss and blindness, some forms of strabismus.

Ears: Hearing loss and deafness.

 

Thyroid and I see other things listed on another site here

Pancreas: Diabetes and exocrine pancreatic failure (inability to make digestive enzymes). Some individuals diagnosed with diabeties actually have diabetes secondary to (caused by) a primary mitochondrial disorder.


http://www.umdf.org/ Has more information and there are people here with experience (including who to see if there is a concern or help in sorting out if there is a concern).  The above is taken from this symptom list on their site.
http://health.groups.yahoo.com/group/Mito/ This yahoo group is active. People here on mothering or there can often recommend someone to see if you suspect mitochondrial issues in your child. Who you see matters as most doctors aren't familiar with this condition yet.

CPT II
Mitochondrial symptoms have over-lap with fibromyalgia and chronic fatigue symptoms. So does another metabolic condition called carnitine palmitoyltransferase (CPT) II. People are often mis-diagnosed as chronic fatigue or fibromyalgia with both of these disorders. So given the prevalence of CPT II in the general population I thought it might be good to add a few links about CPT II. It is actually a very common fatty acid disorder. Symptoms can onset in late adolescence and adulthood. In addition to fatigue it often causes pain. The late onset leads to the mis-diagnosis as chronic fatigue or fibromyalgia. Similarly, mitochondrial disorder is progressive so can become more apparent with age or environmental stressors.

http://www.fodsupport.org/cpt2.htm

 

I am going to add some information about testing:

 

The initial, formal tests run when a metabolic/mitochondrial disorder are suspected are listed here, in the metabolic screening in urine and blood section. The other tests are performed for specific patients to follow up with specific symptoms/concerns.

The problem is finding a doctor who really knows mitochondrial disease well enough to evaluate properly. Here is a list of doctors who specialize in this area. We were evaluated by Dr. Parikh in Ohio and Dr. Hainline in Indiana. If my son's initial blood and urine screens were normal, we were told he would be tested again when his body was under stress/sick. My son's initial labs were not normal, so I'm not sure how that works. I do know, though, that a mito patient can have normal labs at times.

 

After my son had been formally tested, a doctor ran a Metametrix Comprehensive Urine. We were tested because of some unexplained GI issues. But this test came back flagged for metabolic conditions affecting mitochondrial function and fat metabolism. The suggested treatments were much like Dr. Hainline and Dr. Parikh had recommended. This is not a formal diagnostic metabolic lab. It would not be appropriate for a heavily affected child who needs expert care and follow up. However, I mention it because it might be a good option to explore metabolics for some families. It is much less expensive (our insurance did reimburse us, though at out of network rates) and a urine test--much less invasive. It would provide information without a medical trail/formal diagnosis. So I mention it as an option.

 

A doctor had ordered our metametrix and so we ran it through insurance. I do know there are patient ordered options too. Here is one (Organix Comprehensive) and here is another, slightly more expensive, one.

 

One formal test worth running in any low tone/low energy child or adult is carnitine levels (blood) in my opinion. Any doctor can order a level. If you're low, prescription Carnitor can be given. Correcting low carnitine made a huge difference in my son's life. His energy dramatically improved, his constipation was helped, and he gained back lost developmental skills. He was very low though when tested and I know some kids don't have wow results. I personally got great benefit from correcting a low coq10 level.

 

Finally, here is a listing of typical treatments.

http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934635/k.6546/Treatments__Therapies.htm

 

The first tier supplements listed are typically given to all suspected or diagnosed mito patients. A person using the Metametrix could use these are dosing guides.

 

Most of these are available without a doctor's prescription. Coq10 needs to be in a specific form that is available to the body--Tishcon Corp makes it. So another companies CoQ (from online or Walmart for example) isn't worth the money.  Epic4Health sells Tishcon forms. Their Q-gels are Tischon. Other forms of their coq10 may be as well. This is what our doctor recommended. As an aside, I was diagnosed with very low coq10 (I am the source of my son's metabolic issues-I was healthy until my late mid-30's). We did follow up labs and the Tischcon form raised my levels very quickly.


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#2 of 66 Old 08-20-2007, 07:18 PM
 
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Wow! How wonderful of you to take the time to gather all of this information and share it.

It is interesting that some of the items from every category are consistent with Kabuki Syndrome, which my dd has. They do not know what causes KS and it is very rare (maybe 500 people worldwide?). I wonder if there is something mitochondrial behind it. I had heard though that mito diseases are dgenerative and KS is not. I will have to look into it more.
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#3 of 66 Old 08-20-2007, 07:35 PM
 
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Woah, I had never read before that mito could cause exocrine pancreatic insufficiency. My DD, who has had a presumptive mito diagnosis for years has EPI.

That list was a bit scary. My DD's clinical picture looks like mito, but my baby is actually the one whose labs look like mito. His urine organic acids and acylcarnitine profile are both pointing in that direction. He is still not eating orally, spilling ketones in his urine when not sick, has tone issues, and has frequent ilnesses and prolonged recoveries with motor regression.


Brain: Developmental delays (inc. autism), regression, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes.

My dd has had some cognitive function loss as well as white matter signal abnormalities, interpreted as pariventricular gliosis, in her brain MRI.

Muscles: Weakness, hypotonia, cramping, muscle pain.

My dd has moderate hypotonia, experiences cramping, has had a lot of difficulty building muscle strength even with lots of PT and OT and gets awful leg cramps on occasion.

Systemic: Failure to gain weight, short statue, fatigue, respiratory problems including intermittent air hunger.

All of the above. My dd is finally 40lbs at 9.

Nerves: Weakness (which may be intermittent), neuropathic pain, absent reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems.

weakness, absent reflexes, GERD

Kidneys: Proximal renal tubular wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.

severe proteinuria without other typical signs and markers of kidney failure, normal creatine clearance.

Heart: Cardiac conduction defects (heart blocks), cardiomyopathy.

slightly enlarged heart, some regurgitation, but thank God, nothing worrisome right now!

Liver: Hypoglycemia (low blood sugar), liver failure.

abnormal LFTs, needs to eat regularly, but we aren't testing sugars.

Eyes: Visual loss and blindness.

Only double vision, conversion problems because of muscle weakness.

Ears: Hearing loss and deafness.

Thank God, fine, though she is getting tested regulary.


Pancreas: Diabetes and exocrine pancreatic failure (inability to make digestive enzymes). Some diabetics actually have diabetes secondary to a primary mitochondrial disorder.

Exocrine pancreatic insufficiency, takes Pancracarb.
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#4 of 66 Old 08-20-2007, 07:40 PM
 
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Thank you so much for posting all the information!
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#5 of 66 Old 08-21-2007, 11:22 AM
 
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After watching that video and hearing the woman say "she just looked too good" I about bawled! I've been hearing that so much that if one more person tells me that I'm going to punch them. :

Brain: Developmental delays (inc. autism, ADD, learning difficulties), regression, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes.
Seizures, developmental delays


Muscles: Weakness, hypotonia, cramping, muscle pain.
hyptonia, possibly weakness

Systemic: Failure to gain weight, short statue, fatigue, respiratory problems including intermittent air hunger. failure to gain weight, fatigue

Nerves: Weakness (which may be intermittent), neuropathic pain, absent reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems. Reflux as an infant, possible GI issues with not absorbing vitamins

Kidneys: Proximal renal tubular wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.

Heart: Cardiac conduction defects (heart blocks), cardiomyopathy.

Liver: Hypoglycemia (low blood sugar), liver failure.

Eyes: Visual loss and blindness.

Ears: Hearing loss and deafness.

Pancreas: Diabetes and exocrine pancreatic failure (inability to make digestive enzymes). Some diabetics actually have diabetes secondary to a primary mitochondrial disorder.

I've always felt like he doesn't have enough signs to fit mito, but at the same time I do think 3 different areas are affected.

Nicole, mom of 3. Mitochondrial Disease.: Epilepsy
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#6 of 66 Old 08-21-2007, 11:42 AM
 
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Very interesting. This may be something for us to check out, even if Maura doesn't fit the full picture. What I've learned is that you don't have to have all the typical symptoms and lord knows Maura likes to be anything but typical
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#7 of 66 Old 08-21-2007, 12:27 PM
 
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Thank you for posting this!

Today at we saw another ENT and he told me my son's hypotonia in his arms and legs also affects his tongue (my son can't talk very clearly. He speaks in vowel sounds mostly).

My son also takes Carnitor (well the generic version Levocarn). He takes 3/4 tsp once a day. When gave it to him twice a day he got loose stools. We're going to try reintroducing a second dose since it may have been coincidental that he had loose stools. He started taking May 28.

Sincerely,
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#8 of 66 Old 08-21-2007, 02:23 PM - Thread Starter
 
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my3peanuts--your little guy has more signs than mine and mine has a disorder affecting his mitochondrial cells without a doubt. But I know you know that and I do think mommy gut is important here.

Debra, loose stools is actually an initial thing with some kids on carnitor. My son it was awful for a bit. We stepped up the dose amt. more slowly with him but we were assured it would get better as he adjusted and indeed it did. I did give him the doses throughout the day as the constant is important/it clears quickly but we started at lower amounts. Big key is to give it with food and increase the fluid intake/dilution with the carnitor dose.
Carnitor has done amazing things for Andrew. His imagination is back, he is far less fatigued, his gross motor skills have improved, and he is just more "with it". It's not a miracle-his muscles are still wasting--but it has been the best thing I've yet done for him medically.

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#9 of 66 Old 09-25-2007, 10:33 PM
 
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this does also sound just like my dd on many issues. it frustrates me to no end because i took dd to my (ex) ped. when i read an article in parenting magazine about symptoms not to ignore and one of them was an infant with smelly breath or feces-- dd had those things as an infant. my ped told me that wasn't the case for dd-- without even doing a blood test.

please tell me what the prognosis is for your children-- the video was super scary and I am terrified for her future. is there any rate of recovery? what about quality of life? are the medications effective in treating the symptoms?
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#10 of 66 Old 09-25-2007, 10:47 PM
 
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Rachelle,
We're actually having a muscle & skin biopsy done in a couple months and I am praying for an answer. Even if there's no treatment.

Nicole, mom of 3. Mitochondrial Disease.: Epilepsy
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#11 of 66 Old 09-25-2007, 10:50 PM
 
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Originally Posted by matokate View Post
this does also sound just like my dd on many issues. it frustrates me to no end because i took dd to my (ex) ped. when i read an article in parenting magazine about symptoms not to ignore and one of them was an infant with smelly breath or feces-- dd had those things as an infant. my ped told me that wasn't the case for dd-- without even doing a blood test.

please tell me what the prognosis is for your children-- the video was super scary and I am terrified for her future. is there any rate of recovery? what about quality of life? are the medications effective in treating the symptoms?
The prognosis is different for every child. Mitochondrial disease is progressive & there are some things you can do to slow down the progression of the disease but there is no 'cure'. Even the treatment is pretty controversial as far as what helps, if anything.

In my understanding what you do is treat the symptoms. In my sons case we aren't sure what's going on. Definitely something metabolic, possibly mitochondrial. He has a seizure disorder so the "treatment" is controlling his seizures. He's also developmentally delayed so he receives therapy. Basically, the treatment is individualized to a persons symptoms.

Rachelle will know more, she's been dealing with this for 3 years, I've only been dealing with it for about 7 months.

Nicole, mom of 3. Mitochondrial Disease.: Epilepsy
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#12 of 66 Old 09-26-2007, 12:02 AM - Thread Starter
 
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Matokate,
I was angry with my son's former ped. too. I was actually told by the person who diagnosed my son with autism that he needed a metabolic screening. The ped. told me urine organic acids were a money making scheme invented by our State Children's Hospital (crazy) and my son had no signs of anything metabolic. I waited over a year to finally beg my brother in law to run the labs...and no they weren't normal...and yes he had tons of markers. But I know I've got to let go of it so I will.

I do think your daughter likely has something going on in the metabolic/genetic area.
But realize that there are lots of different possibilities--whose symptoms can over-lap. My son probably has actual mitochondrial disorder (80% is where his likelihood is now) however, he still could maybe have other things that look like that. So our recent testing was for a lot of stuff.
Some metabolic conditions are very treatable or managable might be a better way of putting it. Others aren't. Mitochondrial unfortunately doesn't have a lot of good treatments--though some kids do really well on the meds and supplements, some don't respond at all. My son has done ok in that at least he seems to feel better...his labs are still bad and his muscles are wasting unfortunately. We've still got some key supplements we could add in.

So yes there are things they can do to try to support the mitochondrials and prevent damage as much as possible. As we age our mitochondrials are damaged--all of us--that is what causes aging. So there is always a deficit when you start out with damaged/defective ones from the get-go. So I suspect mitochondrial disorder will kill my son at some point unless they come up with some revolutionary treatments. But it could be a point tomorrow or a point wayyyy in his future and past my own life even.

About mitochondrial specifically though. I was pretty devastated at first. But what I was told-and it is true-is that there is no way of predicting how a child will do. Even if a child shares the exact same mutation with say a sibling--one could do very poorly and the other you wouldn't even know he/she had the problem. It really depends on how many bad mitochondrials there are in a particular organ. A person with 90% bad is likely going to do poorly and a person with a lower percentage might not even be symptomatic. Someone with bad mitochondrials in say the gut and pancreas and skeletal muscles might do much better than someone with them in the heart and brain and muscles. So just having it doesn't mean a poor prognosis--at least not for most mutations.
Also, some kids do poorly for a while and then are stable for long periods. Others the parent doesn't even know until the child just dies. Which is the thing--knowing or not knowing doesn't change what is. What it does do is help you avoid stuff that can cause damage and do things that might help. I am positive that our knowing my son has a mito or metabolic disorder saved him a ton of damage when he suddenly needed surgery in May. We knew this time what to use and not use in IV's and meds and anesthesia. We just found out he had something going on in 2-3 months before his surgery. I'm really thankful for that knowledge. Remember in that video that those three girls were affected in a wide range of ways...and the mother is older and didn't even know she too had it until it was found in her most affected daughter.

Also, I found out that there is a new pharma company whose sole area of research and development is drug treatments for mitochondrial disorders. This is a really new area which holds a ton of promise for treating a wide range of things so it is generating interest. Hopefully progress will be made in my son's lifetime.

So you asked about my son specifically. One doctor (who is a leader in mitochondrial disorder) told me he can't make a prognosis at all. The other doctor has told me to expect that Andrew will end up in a wheelchair by late teens/early adulthood and that he'll have some measure of respiratory failure at some point--maybe as simple as needing a cpap at night to needing a respirator. I was afraid to ask about his brain. I don't know who is right though it's looking like the second doctor probably is saying it because of my son's test results. I'll find out more as time goes on and get that sorted out.

What I do know is that I don't have any sure days for my son. So I plan to make his days count. As he gets older I'm going to do things sooner than I might otherwise have done (like I planned to do some special trips when the boys were older gradeschool...I'll probably do it as young as I can that I think he'll appreciate it instead as I don't know what Andrew's future will be). But you know we as parents don't have sure days with any of our kids. I just know the uncertainty and so can plan better. I'm scared of course. I hate the idea of what might be and how that will affect him. But, again, it is anyway and it always was so my knowing is a good thing.
I'd like to support you--please let me know if you want to talk or I can do anything.

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#13 of 66 Old 09-26-2007, 12:13 AM - Thread Starter
 
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Originally Posted by my3peanuts View Post
Rachelle,
We're actually having a muscle & skin biopsy done in a couple months and I am praying for an answer. Even if there's no treatment.
I hope you find it too. I feel the same way at this point about us. Where are you having the muscle done? Fresh or frozen? We're waiting on skin labs to come back...it takes a long, long time it seems. I'm really hoping and praying we get our answer through those labs.

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#14 of 66 Old 09-26-2007, 01:36 AM
 
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"The ped. told me urine organic acids were a money making scheme invented by our State Children's Hospital (crazy) and my son had no signs of anything metabolic. I waited over a year to finally beg my brother in law to run the labs...and no they weren't normal...and yes he had tons of markers."

I'm concerned about mito and when i saw this I was excited- we've already done the urine organic acids test! i've got a copy, what am i looking for?
help please. and then, who do I call and what do i ask for?

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and The Nurture Center Store and Resource Center 3399 Mt Diablo Bl Lafayette CA 888-998-BABY
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#15 of 66 Old 09-26-2007, 09:17 AM
 
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"The ped. told me urine organic acids were a money making scheme invented by our State Children's Hospital (crazy) and my son had no signs of anything metabolic. I waited over a year to finally beg my brother in law to run the labs...and no they weren't normal...and yes he had tons of markers."

I'm concerned about mito and when i saw this I was excited- we've already done the urine organic acids test! i've got a copy, what am i looking for?
help please. and then, who do I call and what do i ask for?
If you have a copy it will typically tell you if there were any organic acids present.

Nicole, mom of 3. Mitochondrial Disease.: Epilepsy
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#16 of 66 Old 09-26-2007, 10:53 AM - Thread Starter
 
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Yes, it will tell you if there were any present (there shouldn't be). What does your report say? Was she fasting when it was done? You can have normal screens and still have a metabolic issue. It depends on whether the body is under metabolic stress at the time the screen is done. My son had one that was pretty much normal as it turned out. He had another that wasn't. The first screen is generally fasting to try to put the body under some stress. The second, at least for Cleveland, would be when the child is sick or ortherwise under stress I think....we didn't get that far as the fasting had a marker.

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#17 of 66 Old 09-26-2007, 11:41 AM
 
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I hope you find it too. I feel the same way at this point about us. Where are you having the muscle done? Fresh or frozen? We're waiting on skin labs to come back...it takes a long, long time it seems. I'm really hoping and praying we get our answer through those labs.
I don't know yet where we're having it done. Our neurologist just thinks it should be done. I'm trying to find out if they do it in Minneapolis with fresh or frozen tissue.

Nicole, mom of 3. Mitochondrial Disease.: Epilepsy
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#18 of 66 Old 09-26-2007, 12:03 PM - Thread Starter
 
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Minneapolis would be frozen I think. My understanding is there are only three places to do fresh (Cleveland, Atlanta, and....not sure). You might ask on the yahoo group about it. I just know there are people who do frozen and then end up needing fresh and wish they had just done fresh to start.

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#19 of 66 Old 09-26-2007, 12:07 PM
 
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Minneapolis would be frozen I think. My understanding is there are only three places to do fresh (Cleveland, Atlanta, and....not sure). You might ask on the yahoo group about it. I just know there are people who do frozen and then end up needing fresh and wish they had just done fresh to start.
I know, that's my fear.

I'd emailed Cleveland a while back and they said for $500 they can do a phone consult with you & you send all your records there and they will try to help you that way. I don't know if that is worth it or not.

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#20 of 66 Old 09-26-2007, 02:58 PM - Thread Starter
 
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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.

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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??
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#22 of 66 Old 09-26-2007, 03:10 PM
 
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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.

Nicole, mom of 3. Mitochondrial Disease.: Epilepsy
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#23 of 66 Old 09-26-2007, 08:46 PM
 
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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

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#24 of 66 Old 09-27-2007, 03:53 PM
 
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so my3peanuts or sbgrace, does that mean anything to you?

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#25 of 66 Old 09-27-2007, 04:17 PM - Thread Starter
 
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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.

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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!

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#27 of 66 Old 09-27-2007, 05:12 PM
 
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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?
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#28 of 66 Old 09-27-2007, 06:09 PM
 
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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!

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#29 of 66 Old 09-27-2007, 06:56 PM - Thread Starter
 
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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%.

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#30 of 66 Old 09-27-2007, 06:59 PM - Thread Starter
 
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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.

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