Jude was about 15 months old, our days included constant researching,
pursuing diagnosis, cleaning vomit, washing sheets and clothes,
doing therapy, going to appointments, and trying to take care
of a sick baby and a very active 2 year old. Our sleepless
nights involved overnight feedings and refills administered
through a permanent g-tube, more vomit, and dream after terrible
dream. His GI system was just broken.
Milestones excited us because for a long time,
he didn't eat, couldn't hold up his head, and didn't follow
objects. He 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), often vomited (I believe
because of slow motility, bloating, and an exaggerated gag
reflex), and had abnormally enlarging head size (which decreased
with time). When he was small, his MRI showed decreased white
brain matter, and his EMG revealed his short muscle fibers.
We received a diagnosis after a muscle biopsy
around 18 months old, and we couldn't believe what we heard.
Jude had mitochondrial myopathy. We sought other opinions,
and every specialist agreed that the diagnosis was accurate.
Ever since that day, Jude has only improved. His specialist
put him on a high calorie, very specific diet. Eventually,
he gained enough weight and his symptoms decreased. His doctor
removed his g-tube right after his 6th birthday.
Jude is in a normal classroom. He's bigger and better than
ever. He still has a few limitations, but he has come so far!
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.
In June of 2006 created our first website--www.savejude.com.
Not only did that experience help me (mom) cope, it also helped
me help! I realized there was a need for support when people
started emailing me with questions, so I became a volunteer
for the UMDF.
In 2007, feeling discouraged about limited research
dollars and minimal awareness, I created a mitochondrion costume
and a friend with sewing skills made that drawing a reality.
I wore it at a casting call for Oprah's Big Give in order
to raise money for mitochondrial research. Although I had
high hopes after casting took my photo and said they'd call,
I never heard back.
BUT every cloud has a silver lining! HGTV.com
featured our costumes during Halloween. Jack Black agreed
to wear one with our son Jude AND signed mine at UMDF Symposium!
Athletes have signed them. Politicians have worn them. Cancer
researchers and doctors have ordered them. I've seen them
pinned on Pinterest and featured on blogs. Plenty of good
friends and family members expressed skepticism, but the costumes
took off. I've been sewing every year since.
became more stable, and we bought the judesmitojourney.com
domain. Sharing our story meant sharing the knowledge that
we had learned the hard way. If your child has recently been
diagnosed, you may feel that diagnosis was delivered with
a death sentence. As you can see above in the smallest of
smiles, that is not always the case.
Mitochondrial diseases are very different and
affect different organs, so most people have different symptoms.
Mitochondrial Cytopathy (of the cell)
Mitochondrial Myopathy (of the muscle)
Mitochondrial Encephalopathy (of the brain)
Mitochondrial Encephalomyopathy (of the brain and muscle)
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. If you are dealing with some of these problems,
we hope you find this website inspirational and informative.