He looks so healthy and normal...
We all know Jude's doing really well and are thankful for his stability. However, it's a waiting game filled with uncertainty. He had a very difficult infancy and toddlerhood, and not enough is known about mito to predict the outcome.

We've done a lot of research, and so far we've only found one polymorphism through genetic testing that might be responsible for all of this. People ask me, "Why can't you just test him for all the mutations?" My response is, "How can you start a fire with no wood?"

You see, so many tests have yet to even be developed. In addition, before the medical community makes any assumptions about the typical presentation associated with genetic mutations or polymorphisms, they must have a significant group of affected individuals who all present in the same way.

In one gene alone, called POLG, there were only two known mutations in 2004. Now there are over 100 known mutations. To learn more, ask me or read about the mutations yourself. http://tools.niehs.nih.gov/polg/

Jude's problems in infancy and early toddlerhood were life-threatening. If you just received a death sentence, Jude is your icon of hope. He is doing an amazing job of defying his limitations! Best advice? "Expect the worst and hope for the best." Things are definitely going to go wrong, and your child is going to suffer for it. It's your job to help him (or her) pull through the crashes.

I like to compare Jude's mitochondria to the levees of New Orleans. The levees did a pretty good job on a daily basis. However, when a crisis like Katrina rolled in, the results were devastating. With every illness or stress (fatigue, eating habits, diet, etc.), we wonder how his little body will react.

Red flags during first year (still looking normal): elevated CK, elevated liver enzymes, anemia, "floppiness", gasping, choking, extreme fatigue, decreased white brain matter, developmental delay, hypotonia/myopathy, slow growth, vomiting, gagging, bloating, heartbreaking constipation, exaggerated startle, tremor (hypoglycemia?), and Failure to Thrive (refused to eat and gagged/vomited). Oh, and take a look at the huge cranium! He earned himself an MRI and CAT scan out of that deal... both abnormal, I must say. Almost all of these problems have resolved. We hope Jude is in remission.

**The BEST thing we ever did was a feeding tube and 24 cal Pregestimil + Polycose on 24 hour feeds. When a child experiences metabolic stress, he or she CANNOT go without food and needs it delivered slowly.

Jude has a mitochondrial disorder (OXPHOS dysfunction, short for oxidative phosphorylation). Don't worry if you are lost at this point! Even the spellcheck feature doesn't even know how to spell this stuff!

Here goes:
Mito is broken down into categories depending on what part of the body is affected. It can affect eyes, ears, brain, heart, kidneys, GI, muscles, anything really. It just depends where the mitochondria are dysfunctional. Jude has been diagnosed with mitochondrial myopathy, which was determined by EMG and muscle biopsy.

Mitochondrial Cytopathy (of the cell)
Mitochondrial Myopathy (of the muscle)
Mitochondrial Encephalopathy (of the brain)
Mitochondrial Encephalomyopathy (of the brain and muscle)

Jude has Complex IV (COX or cytochrome C oxidase deficiency), and there were inconclusive reports about Complex II and III. Right now, we assume that he JUST has Complex IV. The complexes are part of the electron transport chain, also known as the respiratory chain. This has nothing to do with breathing. The reason it is called the respiratory chain is because mitochondria are subcellular organelles that oxidize sugars and fats to produce chemical energy called ATP so your cells can live. Mitochondria produce 90% of the body's energy. Without energy, organs fail. Diseases of aging like cancer, type 2 diabetes, Parkinson's, atherosclerotic heart disease, stroke, and Alzheimer's disease have been found to have defects in mitochondrial function. It's a lot bigger than just one little disease, and it's the root of many bigger problems. Check out our Media page to see how mitochondrial dysfunction is involved in other diseases.

Until Jude was about 14 months old, I spent my weekdays cleaning vomit, washing sheets and clothes, doing therapy, going to appointments, researching, and trying to take care of a very sick baby and a very active 2 year old. (Oh, did I mention that during this difficult time Jude still looked normal?) But after a few months, I realized that being "homebound" had helped us to slow down. We did things that you don't get to do with your kids when you are always running around. We did more at home. We entertained ourselves. We played. We read. We did therapy with Jude. When Jett played outside, we brought Jude, the carseat, the towels, the feeding pump, the IV pole, and we had fun. Family life can still be very fun without McDonald's, ice cream, the mall, the playground, etc. I spent wonderful (and not so wonderful) countless hours with my boys. And when I could handle no more, I sat them both down in front of the TV. Yep, the TV. Baby Einstein, hats off to you.

Jude now eats by mouth. We watch his labwork every year, monitor his organs, and we keep an eye on his blood sugar. We've been advised to keep his tube until he's six because of the likelihood of regression. Besides, it's easy to give him meds and when he's sick, we avoid the hospital by hydrating him through his button. He gained a lot of weight on a high protein/high fat/low carb/no sugar diet, so now we have revised his diet to be more balanced. We try to allow him plenty of sleep. Speech was also a problem for a while. We taught Jude the signs for power words and animals, and a friend gave me the "My Baby Can Talk" First Signs DVD. I don't know if it was the repetition of us doing words/signs with him or not, but his speech exploded. I highly recommend signing DVDs, and I also have had great luck teaching him sounds with the Leap Frog "Letter Factory" DVD.

This was all very exciting to us because for many months, we thought Jude might be severely handicapped. He didn't eat, couldn't hold up his head, he didn't follow objects, barely smiled, only cried when his stomach was bloated (decompression with the G-Tube immediately stopped him from crying because it released the air that he couldn't), he often vomited (I believe because of slow motility, bloating, and an exaggerated gag reflex), and had abnormally enlarging head size (which decreased with time). His MRI shows decreased white brain matter, but his muscle tone has improved.

I believe Jude is on target for his age. He has always had excellent fine motor skills and all of his delays have resolved.