metabolic disorders- HELP! - Page 2

[JaneS]

Originally Posted by momtoalexsarah

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

For example, these can all be hypothyroid symptoms as well. And shown in the medical literature as resolving with thyroid hormone treatment.

[Hopesmommy]

To make things even more difficult, you can have a biopsy that "is not diagnostic" for mito, and still have mito. Ugh.

My son has what we think is secondary mito dysfunction. His biopsy was not normal by any means, but it didn't fit all the criteria for mito either. However, his complex I was higher than normal and his II+III was borderline diagnostic for a respiratory chain defect, as well as his complex IV.

Clinically, he acts like a mito or FOD kid, but we can't seem to get a surefire dx. Frustrating stuff, these diseases.

We see the mito doc in Houston.

[sbgrace]

Jane,
Yes, Tischon Corp is the coq10 you'd want to use. It's available via epic4health and they have lots of information and research on their site explaining why it's the form you want to use.

On the other question. If I'm understanding correctly that you're saying a child or adult could have thyroid issues without any testing showing a thyroid issue and you're saying thyroid symptoms mimic mitochondrial symptoms in some areas. If I'm understanding that I don't know how a person would know if they have an issue? But, as I said, thyroid issues don't seem to be a part of the obvious mitochondrial picture at least as thyroid is tested and understood by the doctors in the field. Side note: in metabolics I've found that doctors are very open to alternative treatments and supplements and the like because these are often the treatments for these conditions after all. There is also tons of research going on in this field. If thyroid was an area they felt significant I've no doubt it would be looked at in this field. Another thing you could look at is the other diseases that have a mitochondrial component and whether thyroid is found in any of those.

Last, the list of mitochondrial symptoms does indeed look like thyroid stuff in some areas. However, if you look at what mitochondria do in our bodies the mitochondrial issues alone being responsible for those symptoms makes perfect sense and is reasonable. You don't need another cause (thyroid) to get them if you've got mito.

[JaneS]

If you are interested, you might want to get a copy of Starr's book 'Hypothyroidism Type 2' and read the chapter on mitochondria to see if it makes sense to you.

Thyroid disorders years ago used to be treated by clinical evaluation and resolution of symptoms. It is now tested and treated by using lab values... symptoms are ignored. Studies have shown that even when lab values are brought down to "normal" ranges, the symptom ratings are the same. It's become testing by numbers.

So for a conventional doctor to say one doesn't have thyroid problems based on blood tests is missing how the thyroid actually functions:

• the cells need to absorb the right amount of hormone;

• the hormone needs to be actually utilized by the cells;

• the cells need to communicate back to the brain that it needs more;

• and the brain needs to communicate to the pituitary.

Every one of those steps can malfunction, but your blood tests will still be "normal". Just like you can have normal blood levels of calcium but have osteoporosis.

And in fact, thyroid uptake and utilization is more likely to be abnormal b/c of the mito role. One of the basic functions of the mito is to use thyroid hormone. So yes, you can have mito defects that cause symptoms... but how it actually produces the symptoms is because the thyroid hormone is not being used adequately by the cell. At least that is my take on his explanation.

Starr proposes that giving more hormone will enable the body to overcome the genetic defects as there is a large medical history of these exact symptoms resolving with (natural desiccated) thyroid hormone.

This is a growing issue in the thyroid field ... thyroid problems despite "normal" lab tests... and I wouldn't be surprised if the mito field hasn't caught on to this basic discrepancy. It's simply not taught in any medical school, yet has a long standing body of research based on clinical evaluation and treatment.

[JaneS]

From my link above to Starr's site:

The beneficial symbiotic relationship between mitochondria and thyroid hormone works both ways. Adequate levels of thyroid hormone not only increase mitochondria number and function, but as Starr points out, “mitochondrial mutations appear to be largely responsible for the metabolic defects at the cellular level, which result in a hypothyroid-like condition…. Defects in mitochondria, as well as synthetic toxins, impair thyroid hormone metabolism at the cellular level.” Not surprisingly, symptoms of mitochondrial disease are the same as symptoms of hypothyroidism

[Riu]

A neuromuscular specialist might be able to help you. I saw one at the Washington University neurology department in St. Louis.

There are a whole lot of different mitochondrial disorders. They can be sometimes symptomatically treated, but not cured. Many of the disorders have severe complications, so it is best to start supplements and treatments quickly upon diagnoses. However, it can take years to get a diagnosis, and more years to find a treatment course that offers any relief. Misdiagnosis is very common. Before I was diagnosed officially, I was preliminarily diagnosed at different times with Multiple Sclerosis, epilepsy, depression, Arnold-Chiari Malformation, migraines, and even had the scary one of atypical ALS thrown at me a couple times. I was sent from one specialist to another, and some accused me of being a hypochondriac. I had MRIs, CTs, EEGs, EKGs, nerve conduction studies, a ridiculous amount of bloodwork, spinal taps, and more acronyms than I can remember.

I am kind of an oddity even within the adult mito community because I have one of very few disorders that has a defined treatment. I have a recessive mitochondrial disorder, Primary Coenzyme Q10 Deficiency most mito disorders are dominant and maternally inherited). I was finally diagnosed when I was 24 by a muscle biopsy following years of inconclusive testing. I had a lot of odd symptoms that seemed to mostly come and go throughout my life. I also have narcolepsy, and a lot of my symptoms were brushed off as being side effects of that disorder. I had tonic-clonic (grand mal) and absence (petit mal) seizures until I was 14, exercise intolerance despite playing two varsity sports fairly well in high school, rhabdomyolysis episodes, multiple severe food and drug allergies (eggs, milk, fish, shellfish, aspirin, NSAIDS, dilantin), and months-long severe headaches. When I was in college, it progressed to generalized clumsiness, chronic fatigue, abnormal reflexes, and peripheral neuropathy. Over the course of two years, I developed myoclonus severe enough to keep me from working in an engineering lab like I had trained to do. That was the last trigger that finally prompted my doctor to give me a muscle biopsy. I've been on 400mg/day doses of CoQ10 and B-vitamins for 4 years now, and my symptoms have really subsided. I still have fatigue, tremors and fairly mild myoclonus (still gets bad under stress or when I'm tired), headaches, and exercise intolerance, but I'm stable for the first time. If I forget to take my supplements, I start to feel worse in a couple days because my body does not make enough of the coenzyme. Since my disorder is recessive, my son is a carrier, but not afflicted.

[JaneS]

90% of those things Riu just mentioned have been mentioned in Starr's book as being treated with desiccated thyroid hormone. The exercise intolerance, reflexes, tremors and the myoclonus especially jump out at me.

EDIT: ok just went back to my notes on this book and I want to revise this to say 100% of Riu's sx are mentioned as a sign of thyroid hormone malfunction

Including seizures, chronic fatigue, food and drug allergies, narcolepsy, headaches, exercise intolerance, neuropathy, etc.

I also just found the big Mito Disorders thread and the symptoms there are identical as well:
http://www.mothering.com/discussions...d.php?t=734501

[Hopesmommy]

Originally Posted by Riu

most mito disorders are dominant and maternally inherited).

Actually, there are some Mito docs that now disagree with this. Most of the known Mito mutations are maternally inherited, however there are far more people now getting dxed with mito based on muscle bx that are indicative of mito who do not have known mutations and no history of mito on the mother's side.

I am on a mito message board and the vast majority of people on the board have Mitochondrial myopathies that are suspected of being autosomal recessive.