Mitochondrial Diseases

What they are, how to learn more

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How We Discovered Mitochondrial Disease in our Family

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:

• Tim, born in October of 1994, full term, had a severe case of hyaline membrane disease, requiring NICU care with respirator and liquid surfactant. The neonatologists were mystified as to why this occurred. Luckily, he survived.
• Immediately after bringing Tim home from NICU, we noted he was very "floppy", had poor sucking, and needed to be handled very cautiously.
• He had numerous episodes of sudden dehydration.
• At age 8 months, he began physical, oral/motor and speech therapies. Feeding issues resulted in constant attention to weight gain (Tim is very low weight).
• At age 14 months, his physical therapist agreed with my observation that something more was going on with Tim than simple developmental delay.
• During this time, our pediatrician, who was a close family friend, allowed us to pursue investigation, even referring us to a geneticist, while also saying he thought everything was fine.
• At 18 months, Tim was diagnosed with a severe to profound bilateral sensorineural hearing loss, meaning he was deaf.
• At age 2, we went to Mayo Clinic, where all known disorders were ruled out, and the suggestion of mitochondrial disease was made. This was something we suspected through our own "internet investigation" and the use of the OMIM database.
• At age 3, a fluctuating hearing loss was confirmed, and Tim was enrolled in a full time hearing impaired preschool, with one on one support for his physical needs.
• More hospitalizations for dehydration occurred.
• In January of 1998, we chose a new pediatrician, who immediately referred us to Atlanta (Dr. John Shoffner) for a mitochondrial muscle biopsy.
• September, 1998: a Complex I and IV mitochondrial defect was confirmed.
• October 14, 2004. Our new baby Claire arrived, and started having seizures in the hospital. She has developmental delays, but is also the happiest baby I've ever had the pleasure of knowing. Claire has shown many metabolic abnormalities so far.
• June, 2004. Claire is in physical and oral/motor therapy. A mono-like virus has hospitalized various of the kids. Tim, 9 and Danny, 6 have matching wheelchairs, but only need them for distances. (Ok, they ARE different color frames!) We are not bored!
• October 29, 2005. Wow, I can't believe how out of date I've let everything get on the website, not to mention other areas of my life. If you say "EOB" in front of me, I am likely to spout pea soup. Unfortunately, time is taking it's toll on the kids, and on me. We pretty KNEW that I had the Mito Myopathy, but I never bothered to confirm it until about a year ago. I and the kids use all medical care at the University of Wisconsin Hospitals and Clinics. The drive (about an hour and a half) is a hassle, but it's the closest hospital on our insurance that has a PICU. Rockford Memorial Hospital is closer, but not on our policy. I am very pleased with the care we've received there. For specific info on how the disease is affecting me or my kids, visit the "Family" page. The family members with the most active problems currently are myself (Kathleen), Claire, Daniel, Tim and Emily. That can change on a day to day basis, of course.
• April 28, 2007--It has been two years since I've actually updated this page. That's nearly criminal, considering the number of families I've heard from. Rick and I will be attending the UMDF Conference in San Diego in June, and I am sure I will learn more there. In the meantime, I can at least update the bits and pieces I should have shared since 2005!

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Current Health Status of Our Family
Age Before Beauty List....
• Kathleen, 41
I was told as an 8th grader that the weird illnesses and heart arrythmias were due to lupus. Since lupus was the most commonly known disease that could cause a seemingly unrelated string of illnesses, it worked as a diagnosis. When Tim was diagnosed in 1997 though, the idea that I had been misdiagnosed came up at every visit with another specialist. Rick and I thought that since I had so many normal pregnancies that my mito disease must be mild. And it was, for many years. It wasn't until 2000 that the evidence began mounting for an "adult onset" of more serious symptoms. In fall of 2004 it was made official at UW Hospital in Madison. Since Claire arrived in 2003, my muscle weakness has progressed rapidly. I now use a cane on good days, and a power wheelchair on my worst days. There are a few days when I don't get out of bed, but those are fewer than ever thanks to the "mito cocktail" and the mega doses of Co-Q10--I definitely show a difference.
For you Moms who are anxious about what to look for in yourself if you a child diagnosed with mito disease, I'll share some POSSIBLE symptoms. But remember, EVERY case is different, and even if you have some (or even all) of these, it does not necessarily mean you have it. A few of the common things are: multiple miscarriages (I had 2 in 2000 and 1 in 2002); multiple lipomas (slow growing benign tumors of fatty tissue--I have one growing in the space between the 2 hemispheres of my brain); muscle weakness, especially in the proximal (closest to the torso) muscles; positive Romberg (The Romberg Test is a neurological test to detect poor balance. Specifically, it detects the inability to maintain a steady standing posture with the eyes closed.); limping; inability to sustain muscle use; and chronic/severe fatigue. In my case, I noticed that I couldn't hold my baby, after two decades of almost always having a baby or toddler on my hip. I also have neurological changes that could be from the myopathy or could be a delayed effect of severe head injuries I have suffered in the past. It is sad that no one noticed the huge personality changes as a possible symptom of illness until I started literally falling over, so I would alert women to that one!
• Chris, 21
Chris has been very fortunate to be healthy. He will have to exercise diligence in caring for himself, and being alert to changes in his health. He does still have deposits on his retinas, and also ptosis (drooping) of his eyelids. He will also need periodic exams of his heart to watch for changes in this biggest muscle of the body.
• Steve, 20
Steve also does very well in day to day life. He has NO neurological impairment, just the opposite. He is underweight and is hypotonic. He shows some symptoms of possible Marfan Syndrome, but that is a genetic disease completely unrelated to mito disease. If it is confirmed, my nephew is also suspect, and the likely link is my father, who died eight years ago. But as long as Stephen takes care of his enlarged aortic valve, his life should go well.
• Emily, 17
Emily had surgery to end the electrical misfires from her Wolff Parkinson White Syndrome. Unfortunately, the WPW was too close to the main electrical circuit of her heart and could not be safely ablated. BUT the Dr. discovered ANOTHER pathway, and THAT ONE was the one causing the problem and WAS successfully ablated (cut off) and the WPW was determined to NOT be life threatening. Whew!! So on EKG Emily will always show WPW and have to explain it and convince Dr's that it is not going to kill her, but it's all good. She is not out of the woods yet on her heart and electrical stuff, as she continues to "misfire" and throw extra beats and other fun stuff.
She also suffers from muscle fatigue with exercise beyond just a minimal amount of exertion. She can ride a bike for a mile or two, but then that's it for the day. Emily is getting very good at planning her schedule to maximize what she needs/wants to get done. I am proud of her efforts. She is feisty and does not plan to work her life around her illness. Her attitude will help her to attain a great life.
• Sarah, 16
The healthiest of the kids, and I hope that is true for the rest of her days. She worries a lot about the rest of the family, and I fear sometimes that she will allow her "guilt" at being healthy to eat away at her. She does get muscle fatigue with a lot of exercise, but nothing too worrisome. Her sunny personality will really be great in her job with the Rockford Park District. I will miss having her around the house all the time though!
• Annie, 14
Annie is in a category of her own. Always has been, always will be. She is small for her age, and has mild autism. That is not supposed to be associated with mito disease, but I hear from a LOT of families with kids diagnosed with mito that are also autistic. Go figure. She also has this incredible dry wit, and an excellent memory. She is VERY underweight. Her major symptoms of mito disease are her frequent, and life altering, migraines. She has a problem with the electrical wiring of her heart, too, though this is pretty well controlled with medications. Occasionally though, just for fun and excitement, she will go rigid, faint, and have a seizure. We all find this so entertaining. Not.
• Tim, 12
Tim has faced death more times than I care to count. I already listed his history up higher in this page. Currently he is doing very well. As he has gotten older, he has really learned what having this disease means. He hates it, but when he feels himself "crashing" he can cooperate with getting the liquids and/or medications into his body. He's gone from being admitted 10-12 times a year to only 2 or 3 stays a year to this past year NO HOSPITAL STAYS!! Of course, part of this is that we now OWN most of the same medical equipment as a small Pediatrics Unit. We have a Pulse Ox machine, 2 BiPaps, 2 CPaps, a Nebulizer, a Cough Assist Machine, Respiratory Assist Devices, and boxes and bags and syringes galore. The only I can't do at home is start an I.V. We don't focus too far into his future, choosing to take his attitude of living life one day at a time. This school year Tim has shown a real zest for learning, and he is impressing up greatly with his command of science and math. He is such an amazing kid, and I am so privileged to be his mom!
• Danny, 9
Danny is so lovable, all the grownups that work with him want to hug him. He's like a teddy bear. A lesion on Danny's brain has affected him in a manner that leaves him unable to process information in a normal fashion, which is sad, and made us angry when we learned of it. But it also makes him Danny. He never has an unkind word about anyone. He is always looking to please the people around him. He will play with his 3 year old sister for hours on end and want nothing in return but her love. He is losing muscle strength with every exertion, so he is Dr. ordered to use his power wheelchair at school. He is only supposed to walk within his classroom and our home. Even then he falls frequently. One fall at the Rehab Clinic in December left an egg on his forehead so large that even now, five months later, they are telling me to "give it another year to heal."
But Danny isn't angry about it. He plays power wheelchair soccer, power wheelchair boccia ball, is thinking about golf, and definitely wants to try basketball in September. He is counting down the days to MDA Camp. Even as he grows, he doesn't seem worried about not being able to even bathe himself or wipe himself after a b.m. He has a wonderful aide at school, Mrs. Clarke, who helps him with personal needs, and the Rehab Clinic in Middleton, WI is helping us to find adaptations to help him as he reaches adolescence. I always thought it would be Tim we would be helping like this. You just never know.
• Claire, 3
Miss Claire loves kitty cats. It's the first thing she'd want you to know. She has been in the hospital NINE times already, and each time the nurses had to hunt down stickers with cats on them. They always found some, too. Claire becomes acidodic very easily. Lactic acidosis is bad, and requires I.V. support. It's the same thing that always happened with Tim, so we are used to it. Luckily, now that Claire is a bit older, we are able to get here drinking apple juice as soon as she is sick, or popsicles, and the last 2 times that would have been admits for sure, she's been able to stay home. (See the Hoppe Home Peds Unit reference above in Tim's description.) Claire has also had 2 kidney infections of unknown origin. She has long reddish blonde hair, thick and curly--amazing hair. She loves her Daddy best of all. She calls her sisters and brothers her "friends." We all adore her.

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:

Mitochondria are the powerhouses of the human cell; they convert the energy stored in sugars and fats into adenosine triphosphate (ATP), the essential energy molecule of all animals. This energy production is carried out on a complex folded inner membrane of the mitochondria (see the picture above). Every muscle cell is filled with mitochondria, combinging sugars or fats with oxygen to yield water and ATP. Without this ATP, we would die, having no "power" left. Mitochondrial cytopathies have a diverse range of symptoms, and span many (all) organ systems. There is such a large number of biochemical and genetic defects, that currently a predictable clinical course does not exist. Using the description above, the analogy of a power supplier not supplying enough energy is a good one. The mitochondrian in the above picture is only one of many in your cells. The reason people manifest with SO many different problems is based on the percentage of "bad" mitochondria that get assigned to that part of the body. In our own family, some kids obviously have a higher percentage of bad mitochondria in their muscles than some of their siblings, while others have more brain (neurological) problems. This chart shows you a basic idea of how this can happen. Keep in mind that men do not contribute mitochondria, but that does not mean that only Mom causes mito disease, as there can be mutations.

Here's the simplest way to explain what happens. The food we eat gets broken down and assigned in various fashion. The fats and sugars go through processing, and there's quite a bit involved in this. If you get into this stuff more, you'll hear all about the respiratory chain and ATP, which is the end result, or energy. The mitochondria in a cell have to go through five "complexes" to create energy. An error in any of those complexes is bad, but obviously there can be varying degrees of how big the error is, and where it occurs in the energy making process. Mitochondria are responsible for producing most of the energy that's needed for our cells to function. In fact, they provide such an important source of energy that a typical human cell contains hundreds of them. A mitochondrial disease can shut down some or all the mitochondria, cutting off this essential energy supply. Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. MDA uses this picture to help illustrate:

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.

“An observant parent’s evidence may be disproved but should never be ignored” —Lancet 1:688, 1951, Anonymous

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!

 

When Should I Suspect Mitochondrial Disease?

As you read this, it may be nothing like what your child has. When should you investigate mitochondrial disease in your child, or even in yourself? Here are some "Rules of Thumb" of when to think mitochondria:
 

1. A "common disease" (i.e. autism, cerebral palsy, lots of others) has atypical features that set it apart from the pack.
2. Three or more organ systems are involved.
3. Recurrent setbacks or flares in a chronic disease occur with infections.
4. Credit for above "rules of thumb" to Mitochondrial News, Spring 2000 Issue by Dr. Robert K. Navaiaux.

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

Taken from Mitochondrial News, Fall 1997 Issue by Bruce H. Cohen, M.D.

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

1. Blood for mtDNA (PCR and Southern)
2. Blood and CSF for Lactate and Pyruvate, or Brain MR Spectroscopy
3. Urine Organic Acids (by GC/MS)
4. Plasma and Urine Amino Acids
5. Blood and Urine Carnitine
6. Brain MRI
7. Muscle Biopsy and Skin Biopsy, Neuropathology and Electron Microscopy, Mitochondrial Electron Transport Studies, Fresh (coupled) mitochondrial Polarography, Muscle mtDNA (PCR and Southern)

Taken from Mitochondrial News, Spring 2000 Issue, by Dr. Robert K. Naviaux

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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.

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.

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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!

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.

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Dehydration

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.

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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.

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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:

1. The vast majority of patients with mitochondrial cytopathies have an uneventful surgery and anesthesia.
2. Patients rarely experience a complication with a simple elective surgical procedure such as a muscle biopsy or gastrostomy tube placement.
3. There are limited reports describing adverse events and outcomes in patients with mitochondrial diseases.
4. Patients with mito disease, on average, are "sicker" than an unaffected person undergoing surgery.
5. Patients with mito disease are at greater risk than unaffected people for side effects of some medications.
6. Adverse events reported include new neurologic problems such as a stroke, worsening of the overall neurologic status, respiratory difficulties, seizures, cardiac arrhythmias, prolonged coma and death.
7. Hypotonia (low muscle tone), bulbar dysfunction (weakness of the muscles that protect the airway) and relatively poor ventilatory function (decreased ability to breathe deeply and cough) are common in patients with mito diseases and pose an increased risk for perioperative pneumonia.
8. Malignant Hyperthermia (MH) is a life threatening, inherited syndrome triggered by potent inhalational anesthetic agents and/or depolarizing muscle relaxants. Muscle disease is ONE risk factor for MH. Many patients with mito disease sometimes have an associated disease that places them at potential risk for MH.
9. The risk of respiratory failure and worsening of neurologic function is often noted in patients with mito disease after "stressful" illnesses, including infections such as routine viral illnesses or pneumonia. Infections can occur with surgery, even minor surgeries.
10. Patients with heart rhythm problems are at risk for severe heart electrical conduction blocks, which can lead to death. Isoflurane may be a preferred inhalational agent as opposed to Halothane, because Isoflurane causes less disturbances in heart rhythms.
11. Although spinal anesthesia is safe, it should be used with extra caution in patients with neuropathies or myopathies, because of possible deterious effects on blood pressure and respiratory function.

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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Other Stuff

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:

• Project Linus: This volunteer group consists of (mostly) ladies who make blankets for chronically ill children. Tim got his first blanket back a few years ago, choosing a small blue one with animals on it. His little brother eventually claimed it for his own, so Tim was given a new one. This time he chose a bright Joe Boxer pattern. He has loved them both, and is very proud of them. We truly appreciate the love that goes into these blankets. If you can sew at all, consider contributing by visiting their website. You will be directed to a nearby hospital who needs you.
• Make A Wish Foundation of Northern Illinois: Mitochondrial Encephalomyopathy is a life threatening illness, and Make A Wish exists to help kids who face such a illness with one very special wish. Tim chose to go to Universal Studios in Orlando, FL (Disney in Orlando is the Number 1 wish). He wanted to slime his older brother, Steve, on a Nickelodeon game show. It was a great trip, made even better by our stay at:
• Give Kids the World: There is no way to describe this magnificent home away from home in Orlando. It is like living in a theme park. I never even knew such a place existed. I cannot say enough about the beauty of the place. Pictures coming soon, along with a bigger description. All the food there is provided most generously by:
• Perkins Restaurants: Good food, great organization. Each there whenever you can, and always say a kind word to the manager about the support of Give Kids the World Village. They will be glad you did.
• Rockford Register Star: Our hometown newspaper has been there to photograph Tim's visit from:
• City of Rockford Police: It was Sgt. David Hooks (of National Enquirer fame!) who got a group of city police, fire, and ambulance folks together to give Tim a visit from real life "Rescue Heroes". (Click here to see a pic and more on that.) He had spent his 5th birthday in the hospital and wanted simply a visit from a real policeman. Dave and his friends went far beyond that. Live at 5 broadcast from our front yard. It was VERY cool, and Tim still talks about it.
  The Register Star also featured our family on November 6, 2002, with a nice picture on the front page of their "Lifestyles" section, and an article on Tomato Face Foods, producers of a soy based pasta sauce that benefits the UMDF. It was brought to the area after Rick and I tasted it at the UMDF conference. I wrote a letter to our local grocers, and Woodman's responded quickly, stocking their shelves, and inviting the creators to town. This then led to the article, which is online at: Register Star: Pasta Sauce If that link fails, here's the text of the article for those who are interested:
  Pasta sauce benefits charity Store carries product after request by Roscoe mom with seven ill children A different kind of spaghetti sauce is on the shelf at Woodman's grocery in Rockford. The Original Meatless "Meat" Sauce is a soy-based vegetarian product free of fat and cholesterol but rich in protein with "hearty, homemade taste." It was created by an Ohio couple, Allen Segal and Barbara Bruck, after Bruck was diagnosed with mitochondrial disease, which prevents cells in the body from converting food into energy. The condition damages the brain, heart, liver, muscles, kidneys and respiratory system. About 2,000 children a year are born with it, and many don't reach their 10th birthday. There is no cure. "It's a disease that needs desperate attention," Segal said. Roscoe resident Kathleen Hoppe wrote local stores asking them to carry the sauce. Her seven children -- Chris, 17; Steve, 15; Emily, 13; Sarah, 11; Annie, 10; Tim, 8; and Danny, 4 -- all have mitochondrial disease. Hoppe sampled the sauce at a convention in the spring in Texas and has used it in pasta dishes since. "We wanted to buy it without ordering it online," she said. Hoppe said she is pleased that Woodman's was receptive because "it really does taste good" and "my oldest son went crazy for it." Her children are on a calorie-heavy, healthy diet that includes fresh fruit and foods high in fiber. Hoppe makes five or six trips a week to the doctor to deal with her children's health problems. Some have trouble gaining weight. Many have cardiac problems, decreased muscle tone and learning disabilities. But Hoppe says they try to live as normal lives as possible. "They all go to public school and keep up as much as they can." Mike Streber, in charge of organic foods for Woodman's stores in the region, said the decision to carry the sauce was an easy one. "Why did we get it? Because our customers wanted it. If we can help them out, we will." -- Life&Style To learn more For information about mitochondrial disease, go to www.umdf.org or call 412-793-8077. For information about the Tomato Face Foods, which makes the sauce, go to www.tomatofacefoods.com or call 216-360-8888. To suggest products If you want your grocery to carry a product, talk to your local store or call: Logli, 800-264-4400; Hilander, 317-579-8312; Eagle, 800-323-3143; Woodman's, 608-754-8382; and Cub, 651-439-7200.
  And here is the picture that accompanied the stroy:
  
• WZOK Radio: Steve Shannon and Stef Troy are the morning hosts of this, 97.5FM in Rockford, IL. Steve was once submerged in water for some ungodly long period of time (I forget exactly!) to benefit MDA. To see a pic of them with Danny, click here.  We are grateful for their many efforts on behalf of local charities.
• MDA: I know, I list them as a resource, but summer camp rules around here. There are usually at least a few pics of the kids at camp, and you can check if there are by a click here.
• The best form of support comes from those who have "been there, done that" OR are "getting there, trying that". To that end, there is a listserv, which is a daily potpourri of info and sharing. Just click here to get started. I would strongly recommend subscribing to the DIGEST version, or you will find yourself swamped with emails!
  
  Click to subscribe to Mito

Mitoldies is an online support group for adults with Mitochondrial Disease and their caretakers. While I have not yet participated in this group, I do know you can check them out on the web, or email them.

Did you know....If you or anyone you know donates to the UNITED WAY, you can specify which charity you would like the donation to go to. The UMDF has a United Way number and all you have to do is give this to them when you make a donation. UMDF's United Way ID Number is 54238

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I would love to hear from you. Send questions, comments, or dead link info to me by email. Thanks!

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Last update: May 6, 2007