Why do we have this
page? We have eight kids who have been diagnosed with complex
I and IV defects of the mitochondria. During the first three years of our
effort's to find out what was "wrong" with our most affected son, Tim, we were met with constant frustration. It went something like
this:
What is Mitochondrial Disease?
The United Mitochondrial Disease Foundation (linked on this page) offers this analogy to help you understand (and me, too!) If your power goes out in your home, your food spoils, your heating/air conditioning does not work, and you're left in darkness. You call your local powersupplier to report the problem.
The Mitochondria--the part of the cell responsible for energy production--is very much like the power supplier that provides energy
to your home. If the mitochondria (power supplier) is defective, your body cannot function as it should. The brain becomes impaired, muscles start to twitch spastically and weaken, the heart does not pump correctly, vision becomes impaired and the list can go on. For many chldren and adults with mitochondrial disease, this is exactly what they experience.
To give you a more "scientific explanation", look at this picture of a mitochondrian, showing you the basic structure of a mitochondrian, which are present in every cell in our bodies:


Current Diagnosis Status in Our Family
Tim, now age 7, is the only one with a somewhat "well defined" diagnosis, which is currently this: Complex I defect in muscle with negative mtDNA southern blot, negative SSCP and sequencing of mtDNA (Complex I, Complex V, tRNAs, rRNAs). His symptoms included: Dicarboxylic aciduria; abnormal enamel development; moderate retrognathia; bilateral fluctuating hearing loss; motor and language developmental delays. And I probably forgot something! Our daughter Annie, almost 10 years old, has just had her muscle biopsy done, so we will hopefully have results from that very soon. I may also soon be tested, as I show many signs of the adult onset form of the disease.
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Exceptional Parent magazine's editor, Dr. Rick Rader, offered this in his column recently, and suggested that perhaps parents with "reluctant" physicians be sent a copy before their next appointment. I hope it helps some parent to get the help with seeking diagnosis that betters the quality of life for some family. The picture, in Dr. Rader's words: "They say a picture is worth a thousand words, and that’s what I am normally allotted for my monthly Editor’s Desk. When I was a med student, I did a rotation at London’s famed Hospital for Sick Children at Great Ormond Street. At one of the nurses’ stations, where the students would stock up on Cadbury’s chocolate taken from patients’ rooms and read charts, there was a crude wood sign with the quote that appears below. On the last day of my rotation I scribbled it down on the back of a wrapper from a Fruit and Nut Bar, and have kept it ever since." I dont' know about you, but I think I would like Dr. Rader very much! |
Problems That May Be Associated with Mitochondrial Cytopathies
| Organ Systems | Possible Problems |
| Brain | developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes |
| Nerves | weakness (which may be intermittent), neuropathic pain, absent reflexes, dysautonomia, gastrointestinal problems (ge reflux, dysmotility, diarrhea, irritable bowel syndrome, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems |
| Muscles | weakness, hypotonia, cramping, muscle pain |
| Kidneys | renal tubular acidosis or 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 and Other Glands | diabetes and exocrine pancreatic failure (inability to make digestive enzymes), parathyroid failure (low calcium) |
| Systemic | failure to gain weight, short stature, fatigue, respiratory problems including intermittent air hunger, vomitting |
When & Where to Get a Diagnosis
Diagnosis of mitochondrial myopathies has been done
only since about 1988. Fortunately the situation has improved dramatically for diagnosis in a local
hospital. In the past I recommended going to only three doctors: Dr. Richard Haas in San Diego; Dr.
Bruce Cohen in Cleveland, Ohio; or Dr. John Shoffner in Atlanta, GA. They are still the top guys in the
field, but are no longer the only ones who can accurately diagnosis mitochondrial disease through muscle
biopsy. Most major medical centers can offer help. If you are looking for a doctor for diagnosis purposes,
try the UMDF (linked on this page) or call and ask for a metabolic physician.
Our doctors provide an "emergency protocol" letter that we can present to the first
responders when any of the kids have a crisis. I really feel that we are working with a team that
are doing all that they can to maximize the kids (and my) lives and to extend our
lives.
SO--go where you must to get an accurate diagnosis, then
interview doctors until you find those who are interested and willing to
learn! The best way we have found to locate doctors is to contact the UMDF and ask them for guidance. If there is a support group in your area, they may send you there.
Diagnostic Testing for Mitochondrial Disease
Carnitine: An essential thing to check in
children with low muscle tone, frequent infections, slow weight gain.
Carnitine plays an important role in cellular energy metabolism!The mitochondria is the "furnace" of the cell. Fatty acids (fuel) must bind with carnitine to enter the mitochondria. Once inside, fatty acids are burned for energy. Carnitine then binds with the toxic waste by-products of metabolism, removing them from the mitochondria. The inner mitochondrial membrane is impermeable to fatty acids. Transport of fatty acids across this membrane can occur only when the fatty acids are attached to carnitine. Toxic waste products resulting from energy production are removed from the mitochondria by binding to carnitine. If they are not removed, toxic build-up occurs. Carnitine is a small molecule found in animal foods. There is little in a strictly vegetarian diet. This transport via the carnitine is the first step in turning fat into energy for driving muscle contraction or nerve cell firing. When carnitine is in short supply production of ATP is slowed. Only the L (levo) form of carnitine is safe for humans; the D form, which does not occur in nature, can be toxic.
Carnitine deficiency should be suspected if the any of the following are present:
| Symptoms of Carnitine Deficiency |
| Very poor muscle tone and coordination |
| Chronic vomiting |
| Runs a chronic fever |
| Vomits after exercise |
| Severe feeding problems |
| Little weight gain, and/or weight loss |
| Lethargy and unusual weakness |
| Recurring, stubborn infections |
| Flu-like symptoms |
| Increased seizures |
Carnitine Deficiency is an often missed diagnosis, and can exist independently of mitochondrial disease. If you have a primary carnitine deficiency, treatment with Carnitor or another reliable replacement will bring about miraculous results. Check these links for more information on what carnitine is, and how it can be replaced in those with deficiencies.
Carnitine Defiency Syndromes: NORDFrom the National Organization for
Rare Disorders
Mitochondrial
disorders often have a carnitine deficiency along with them. Read up on
the replacement supplement Carnitor
at Sigma Tau's web page.
There are currently diet trials being implemented, with reduced long chain fatty acid content. Recent data indicates that many patients with Complex I defects have secondary defects in long chain fatty acid metabolism. This can further inhibit oxidative phosphorylation.
Because Tim and Claire dehydrate VERY rapidly, we get them to the hospital at the
first sign of serious trouble (dehydration, severe lethargy, confusion). Vomitting almost always means they need an IV WITH DEXTROSE
as soon as possible. This addition of fluids and sugar helps them with that
flaw in the energy cycle. We have seen them come back many times from the
brink of death to their normal, albeight slightly frail looking, bubbly selves.
For a year and a half Tim had an implanted venous port, which allowed for
immediate IV access and avoided the need to find any other veins, as his
collapse so easily. Unfortunately, due to the refusal of a home care nurse
to use aseptic procedure, this central line developed a staph infection
that resulted in the line having to be pulled. When it is replaced in the
near future, you can be sure that no nurse will access our son without
adhering to my strict criteria, as spelled out by the Infectious Disease
Specialist.
We've been blessed by lots of folks who have helped us care for Tim.
Here's some links to organizations we have benefitted from:
Tishcon Corp.
makes a a very stable Carnitine that was developed and patented by Sigma-Tau. Their products include L-Carnitine combined with Co-enzyme Q10, discussed below.
Feeding
For children with weight gain issues, supplemental
feeding becomes important. We used to use Pediasure to keep Tim's weight
up. He required six cans daily, which is a lot to drink. We
used an NG tube to assist him. In the summer of 1999 he had a gastrostomy
tube put in, which is a permanent "opening" in his stomach through
which we can do feedings. During that surgery he also had a venous
port implanted. He lost this handy device to a staph infection in late
2000, but we may opt to replace it soon. It was under his skin, on
a lower rib, and is inserted directly via catheter to one of his neck veins.
That made blood draws and I.V. placements much easier. Tim was able to have his g-tube removed in February of 2007, when he finally was able to prove he could take in enough calories by mouth. He was aged 12 at that time!
Dehydration
Co-Enzyme Q10
Coenzyme Q10 is a very hyped thing right now. You can get it in face cremes, power bars, and numerous vitamins. But for those with mitochondrial disease, it is considered as a generally accepted effective therapy, although it may not be effective for an individual patient. It is usually prescribed is a dose range of 5-15mg/kg/day, not to exceed 200mg daily. It is important that you get your CoQ10 from a trustworthy source, not from an ad in a magazine. Generally, chain providers (such as Walgreens, Osco, etc.) will have forms of CoQ10 available without additives. Check with your doctor before beginning this therapy, and tell them the full ingredient list on the label. There is now a blood test that can be done to see if Co-Q10 will even help a person. We had the test performed on two of our kids, and have since discontinued the use for our kids. Still, there are a couple of trustworthy providers in the links at the end of this page. Despite the tests that showed CoQ10 would not benefit our kids, my neurologist has recently informed me of new studies that say absolutely everyone diagnosed with mitochondrial disease should be on CoQ10 AND Carnitor to help slow the progress of their disease. He says this with great conviction, and while I don't wish to advertise my neurologist (he is the head of a very respected dept and exceptionally hard to get into, I told him I would not use his name) I believe him. The problem for us is that the cost is so prohibitive. If anyone has ideas on how to manage the cost (even when it's "covered" but the copay is like $80 per bottle) let me know.
Issues of Anesthesia in Mitochondrial Cytopathies
The full text of this article, written by Drs. Bruce Cohen, John Shoffner, and Glenn DeBoer is available online. But here, in a summary, are some things to keep in mind when a person with mito disease is going to have anesthesia:
Links for further learning
Use these links to know more.
Rare genetic diseases in childrenThere are far too many of them! Mitochondrial
disease are only one of those discussed at this site.
The United Mitochondrial Disease Foundation It is vital for all affected
by mitochondrial disease to register with the UMDF! The information they
compile in their database will help us share information that can help
all our loved ones.
MITOMAP: A human mitochondrial genome database This will make you wish
you had paid betterattention to biology classes! If you want to do some
serious
learning of the "whys" of mito disease, this should keep you busy.
Mitochondrial Disordersmore links to follow, many personal pages.
MDA Ask the Experts' on mitochondrial myopathy. Muscular
Dystrophy Association covers mitochondrial myopathy under the umbrella
of their excellent research. Besides information on the diseases, they
have tons of practical information, including little "help hints" for living
with neuromuscular disease. Their brochure for parents is excellent. I
have used their information for educating our school personnel. It is written
in a friendly, understandable format.
Mitochondrial Disease and Hearing LossHearing loss often occurs
as an additional symptom in a number of syndromic diseases caused by mitochondrial
DNA defects. It is common for mitochondrial mutations to give rise
to different pheonotypes in different families or patients.
Metabolic Response Modifiers (MRM)MRM is a supplement guide offering quality health supplements. They also support the UMDF by donating a portion of all sales to the United Mitochondrial Disease Foundation. They have L-Carnitine in liquid and tablets; CoQ-10 with enhanced absorption, and vegeterian capsules, and lots of other products. Call for a catalogue (800-984-6296) or shop online at www.bestbuyhealth.com and insert UMDF as password for a discount.
Vitaline FormulasThis is another provider of CoQ10, and they offer a chewable form, which has been the only way we got our kids to take it!
The Children's Mitochondrial Disease Network
Tomato Face FoodsWhen the diagnosis of a Mitochondrial Disorder necessitated that the founder of the company adapt a fat free diet (not applicable to all persons with mito disease!), she made her own great tasting spaghetti sauce. With every purchase of a Tomato Face Foods product, a portion of the proceeds is donated to the UMDF to help promote research, awareness and hope. This is a MEATLESS "meat" sauce, and I've tried it, and encourage you to do so, too!
UMDF "Awareness Pins". These are the same kind of pins that other non-profit agencies use to create awareness and raise funds. They are great conversational pieces, people get curious about these pins and will ask "what's that for?". There is a minimum donation of $5 plus shipping. Find out more by contacting the Southern California Chapter of UMDF by email.
55 North Bath and Body Shop is located at 55 North Baldwin Avenue in Sierra Madre, CA. Owner Carol Wehling is donating a portion of her sales each quarter to the So. CA Chapter UMDF. She carries an assortment of men's & women's specialty items, such as fine soaps, lotions, candles, sleepwear, slippers and much, much more! They make gift baskets, too, large or small and ship anywhere in the U.S. Perfect for holidays, anniversaries, birthdays, or anytime. Call Carol at 626-355-8500 and remember to tell her you are with the UMDF!
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Last update: May 6, 2007