If you want completely solid answers to your questions, please visit the UMDF Website. This info is strictly based off my research and experience. NEVER take a parent's word on something as personal as her child's disease. I try to be accurate without bias, but please, use your POWER TO QUESTION. If you find my information incorrect in any way, please email me.

Q: How does mito present, and what symptoms should I look for?
A: Problems occur where the mitochondria don't work right. This disease cripples and devastates, while in many cases, remaining invisible--behind the face of a normal-looking child. Visit our local families page to see just how normal many of these kids look, despite their many horrible symptoms. Jude was severely affected until 14 months, but the digestive tract is much easier to treat than the heart or brain. After the feeding tube, therapy, special diet, and meds, we started to see improvement. A feeding tube was the *BEST* thing we EVER did!

This chart shows the variety of problems one might experience. **Source: http://www.ccjm.org/pdffiles/COHEN701.PDF --Click here to read.

Mito presents differently in every child, but there are usually 3 or more unrelated symptoms. Mito can affect hearing, speech, muscles, eyes, heart, kidneys, brain, GI, etc. Every tissue has mitochondria, and problems arise where mitochondria are defective. Jude has mild problems with his muscles, GI issues, and decreased white brain matter. He also sleeps a lot.

Q: What are the statistics?
A: Even since May of 2006, I've seen statistics evolve. Why? Mito is newly emerging, and there are more than 200 inherited diseases of metabolism that are known to affect mitochondria. More than 1 in 4,000 children born in the U.S. each year will develop a mitochondrial disease by 10 years of age. Because mitochondrial diseases are currently under-recognized, the actual number may be more like 1 in 2,000.--source UMDF. The thing to keep in mind is that "RARE" (in the world of genetic conditions) means 200,000 people or less. That means that cystic fibrosis, Duchenne's muscular dystrophy, PKU, Neurofibrosis, and many other diseases are considered "rare"; HOWEVER, they are not new diseases. They are well-known and well-funded. Every disease deserves funding and awareness. Please, if you don't currently have a cause, consider supporting UMDF and help advance mitochondrial research.

Q: What's the best pump?
A: We love the Zevex Infinity with the Super Mini Backpack. Check it out.

Q: How is it diagnosed?
A: Fresh muscle biopsy is the ultimate test. Frozen biopsy can also determine mito issues. Other less reliable tests include lactate/pyruvate, skin biopsy, continually elevated CK, liver enzymes, and other blood tests. If mito is in the brain, obviously a muscle biopsy might not indicate mito. MRI and CAT scans are usually helpful. DO NOT let anyone convince you that a child doesn't have mito if he or she hasn't had a muscle biopsy! Many mito parents have said that their child's frozen biopsy yielded negative results. Then a second fresh biopsy indicated mito.

Q: Can mito kids do normal stuff?
A: Most mito patients are limited. Mitochondria generate 90% of the body's energy. When organs don't get enough energy, they fail. Physiological stress can have a serious impact on these kids. Extreme weather, fever, illness, dehydration, etc., can cause an energy crisis. We have a bottle of antibacterial soap in the car and in the diaper bag, and we use it everywhere.

Q: Is there hope?
A: A year ago, I would have said, "No." But today, after meeting families and going through a positive experience with Jude, I believe that there is hope. I realize that the stability of any mito child can change, but as of now, Jude is stable with a few minor problems.

Q: Is there a cure?
A: No. There is a cocktail mix of CoQ10, Carnitine, Ascorbic Acid, and Vitamins that Jude uses, but it may or may not slow down the progression of the disease. There is no proof either way. We buy our CoQ10 at a mitochondrial discount from www.epic4health.com because it comes in a hydrosoluble liquid and it is easy to administer in a feeding tube. We got a prescription from our doc for liquid L-Carnitine (generic for Carnitor), which pharmacies can special order. The over-the-counter version, from what I understand, has not been tested for effectiveness and is unreliable. Ascorbic Acid is essentially Vitamin C, but the over-the-counter version has preservatives, which we're not willing to try with Jude. We have it compounded to avoid preservatives.

Q: Is it genetic?
A: Click this link to see how it works.

Q: Are dietary changes necessary?
A: Maybe. Jude is on a high protein/high fat/low carb diet. Up until June 06, his weight was problematic. In February he weighed 23# and in June he weighed 21#8oz. When we left the hospital in June (with dx), we started him on the cocktail, the diet, and milk of mag. He now weighs over 30#! He has gained more weight than ever. Many special needs kids are on special diets, but the diets are very different depending on what the child can't tolerate.

Q: What are the best things I can do for my mito child?
A: Early intervention and precautions. The biggest threats are viruses, fasting, dehydration, and lack of sleep. These things can cause a "crash" where the child may or may not be able get back to baseline.
1. Do a tube if necessary! Our very conservative GI doc in AR had Jude on 24 hour tube feeds with Pregestimil with MCT oil. I think this gave him a very big advantage and helped his body during its most desperate time.
2. Listen to your gut. Knowing what to expect from already having a child, we intervened early. No infant should be "good", and they should cry when their demands need to be met. If a baby doesn't cry for food, that's a red flag. Peer pressure also helps if there are other children in the family.
3. NEVER stop trying. Every time we put food in Jude's mouth from 5 to 10 months, he immediately gagged and vomited. Jude's been in therapy since around 8 months for speech, feeding, and other delays.
4. Stay at home if possible. Viruses are what cause major setbacks in mito kids. Daycare is a risk.
5. Try the diet and cocktail.
6. Don't be scared of night feeds! Lots of calories with a resting heart rate adds weight!
7: Don't do a sleeping schedule. Mito kids need lots of sleep.
8. Do follow-ups and see other docs for cardio, eyes, ears, etc.