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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.
Jude's problems in infancy and early toddlerhood
were life-threatening. If you just received a mito 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", abnormal bleeding, gasping, choking,
extreme fatigue, decreased white brain matter, developmental
delay, hypotonia/myopathy, slow growth, vomiting, gagging,
bloating, heartbreaking constipation, exaggerated startle,
tremor, 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
still gets some tube feedings when needed, but he eats by
mouth. Maybe he's in some sort of remission, maybe not. 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. He has
always had excellent fine motor skills.
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