Daddy took the day off and joined mommy and me for my appointment with
Dr. Tarnopolsky at Mac. We got underway with plenty of time to spare,
unfortunately enroute I decided to have my morning poopies. I was thus
changed in the trunk of our volkswagen just off of highway 6.
Soon
we arrived at Dr. Taropolsky's office where we sat down to talk about
my progress. Dr. T took a few moments to assess me, played with my arms,
checked my reflexes and my head control. He said my reflexes were good
and my head control was better. He'd planned to set up testing for my
nuclear DNA however the funding takes 7 months for approval so he had
cancelled this and went with the mtDNA test instead. The results are not
back as of yet, but should be within the next couple of weeks.
Dr.
T. believes that I show symptoms of reversible COX deficiency. As my
preliminary mitochondria test showed that I am only 8% efficient in the
4th stage. He informed us that any one that is that severe should die
and not stabilize like I have. However, this particular phenomenon has
only ever been recorded twice in the history of medicine. Dr. T informed
us that I will likely undergo another muscle biopsy in a years time to
see if the percentage has increased.
Mommy asked about the
glycogen that was found in my muscle, he said that it isn't unheard of
that when the body starts to shut down it starts to store glycogen so it
would make sense that there was an increased amount in me. He also
mentioned that my symptoms are not consistent with glycogen storage
disease. He increased my medicine volumes to coincide with my weight
gain. He has taken me off Vitamin C (however my parents think they will
keep me on it as it will be good for my immune system). He has also
eliminated riboflavin as it is really only good for complex 1. Many of
you that have been following me from the beginning know of my turbulent
relationship with this vitamin and I am overjoyed to be rid of it!
However, he has added vitamin E to my mix, and mommy tells me that it
tastes worse than the riboflavin, which she didn't think could ever be
possible.
Dr. T cautioned my parents about my weight gain, he is
concerned that because I am considered low tone it will be harder for
me to move my muscles. This is in direct conflict with my metabolics
team who want me to pack on the pounds.
We then decided to visit
some old friends at the general peds ward. We ran into my old OT Kate,
who told us that she will get in touch with my current speech therapist
about trying me on 5mls of formula from a bottle. She thinks its
absolutely crazy to keep putting 0.01mls in my mouth... it won't get me
too far. We saw our resident from the ICU, Serengy, and my nurses Deb
and Janine who were all surprised to see me.
We could not leave
until we visited the genetics department so I could see Mariya! She was
happy to see me and couldn't wait for a cuddle! She informed us that my
skin biopsy results were not back yet. However, the lab had found
something interesting in the skin cells, they could not release the
results to her yet as apparently they do not understand the results as
they don't make sense.... They are not sure if it is due to how the skin
cells were cultured or if it is in fact my cells. They are going to
hold another meeting and decide what the results mean and possibly ask
for another skin biopsy. We should know either way by the time we go to
her clinic. Mariya does not believe that I have a mitochondrial
disorder and mommy just thinks that I could be an X-Man.
We
decided to proceed on to the Welland Staples store to see my friends
Dayna and Nicola. They were very excited to meet me in the flesh and
had a big present full of soft blankets and stuffies for me. They along
with Tish have been working on "The Baby Ethan Project". The project
will invite Staples stores to run dress down days for each weekend in
October. The purpose of the days will be to spread my story throughout
the Staples family and to collect some money to help support my
medications, syringes, and other hospital costs. I can't say thank you
enough for their efforts, it truly is overwhelming to have their
support.
We stayed in the store and played in the copy centre for
an hour or so until it was time to eat. We enjoyed the comforts of the
store lunchroom and met some more new friends before hopping back in
the car and high-tailing it home.
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