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.
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.
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.
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.
Edited by sbgrace - 5/16/13 at 1:19pm