Reese’s Story

Site created on February 9, 2007

I have given Reese's CB site out to many new people lately. I figured,
so they don't have to weed through a whole bunch of old entries, I would
post a quick (or maybe not so quick) entry about his story. If you know
it, you can come back the next time you get an update notification if
you don't need to read it again :)

Reese was born after an easy
pregnancy and beautiful birth. He arrived with bright brown eyes and
dark hair which was the polar opposite of his blonde haired blue eyed
brother. His dad told me not all that long ago that the first time Reese
looked at him he told Scott something was wrong. Fast forward to 2.5
months of age when Reese had his first seizure. He looked like a deer in
the headlights and I can tell you exactly where we were. We called our
physician who referred us to neurology where we were scheduled for an
appointment 2 months in the future. Reese had other ideas and within a
week proceeded to have at least 5 generalized tonic clonic seizures
while we were at Griffin's kindergarten round up which landed him in the
emergency room at the local hospital.

Reese's big seizures were
stopped, but he kept having clusters of little jerky seizures. He was
diagnosed with infantile spasms which, in the literature, are described
as a "catastrophic epileptic encephalopathy." Our beloved neurologist in
St. Paul described what was happening in Reese's brain as "an orchestra
where every instrument is playing a different song." The goal is to
figure out why they are happening. All of Reese's testing came back as
"variation of normal" or "abnormal of unknown significance." Genetic
testing was inconclusive, nothing was telling us WHY this was all
happening. It should be noted that once Reese's IS started, his
development stopped. My mama heart knew that anything we would get
developmentally would be a gift.

When Reese was 12 months old,
we started him on the ketogenic diet after 5 seizure medications had
failed to control his seizures. I had been researching on Dr. Google and
found information on mitochondrial diseases. Our neurologist agreed to
do a muscle biopsy, which was the standard for diagnosis at that time,
but I truly think he thought it would not show anything. It did. Reese
was shown to have deficiencies in what is called Complex IV in the
electron transport chain of the mitochondria. Mitochondria are
incredibly complex. So complex that, despite really smart people trying
to explain them to me, I still barely understand how they work.
Basically, mitochondria are the energy producers in our cells. They take
glucose and kind of magically turn that into ATP which all our cells
use to function properly. At that time, Reese's disease was officially
called "suspected mitochondrial disease, complex IV deficiency." We
would not be able to officially call it mito until a genetic test showed
it was that. The problem with that was that they couldn't find it.

We
managed symptoms (seizures, GI issues primarily) as best as we could
with our amazing team locally in St. Paul and Duluth, but when Reese was
4 we made the decision to pull a mitochondrial specialist into the
picture. I had met Dr. S shortly after Reese's diagnosis. He remembered
me the next year after a 15 minute conversation the year before. I knew
if we needed a mitochondrial epileptologist, he was our man. As if
mitochondrial epileptologists are common :) We traveled to Seattle and
established care with Dr. S and his team. At that time, we enrolled
Reese in a medical trial that took his DNA and, as new genes were
identified to affect mitochondrial functioning, that was examined for
genetic mutations. We had several misses until the summer of 2012 when
Reese was 6. Dr. S met with me when he was in Minneapolis for a
conference and said they found Reese's mutation. He actually has 2 on
the MTO1 gene which controls protein synthesis in the mitochondria. We
were lucky to even get a first mito diagnosis because the gene that is
affected has nothing to do with the electron transport chain (which was
identified as deficient from his muscle biopsy). Reese has 2 mutations
on the MTO1 gene, one from me and one from Scott and together they
created his mitochondrial disease.

Mitochondrial diseases are
incredibly varied. They are difficult to diagnose and there are no
treatments or cures. The strategy for managing symptoms for our littlest
is to keep seizures as controlled as we can, decrease external stress
and keep him healthy. Even a mild illness can be the thing that causes
his mitochondria to fail. We have been so fortunate to have an excellent
medical team locally that trusts our judgement when Reese throws any
number of things at us. He never does things the same way twice and
always keeps us guessing.

Reese is currently on 5 different
seizure meds which keep his seizures to a minimum each day. He is on a
host of supplements (his "mito cocktail") which help his mitochondria
function the best they can and gets his feedings through a tube into his
small intestine (g-j tube). As mitochondria don't function correctly,
they throw off free radicals which cause cell death. Just as a car can't
run on fumes forever, a body can't run on decreased energy production
forever. Reese's mitochondrial disease is progressive and we have seen
changes that indicate he is much less capable of handling stress. Our
Seattle doc told us, when Reese was 4, "If kids make it to 3 years of
age, their chances of making it to 10 are greater." Reese, at the time
of his official diagnosis, was only the second person identified with a
mutation on that gene and he had 2 different mutations. He is writing
his own story and we don't have any predictability for where it will go.


We have an excellent team of caregivers, doctors, and nurses
that help us to function as normally as we can without having our life
revolve around medical stuff any more than it has to. Reese loves to be
at home, but does tolerate being out and about as long as he's moving.
He has a great belly laugh that comes out of nowhere. Sometimes he likes
to snuggle, other times not. He gives us his foot to say hello.

He
has taught us so much, which is such a corny, stereotypical statement,
but it's true. I would give anything to have a normal 10 year old
running around with his friends, but to live with that wish is wasted
energy for me. I don't go there very often. I have met some of the
strongest women I know now that I have entered the world of "special
needs mom." Women who have lost a child or children; women who advocate
and educate; women who handle the daily struggles with so much grace. I
can only hope that I am like them when I grow up.

If you made it
through that, congratulations. Reese's story is not simple or short,
but it is his. It is ours. I know that in the end, whenever that may be,
Reese will have been well loved.

"I wanted a perfect ending.
Now I've learned, the hard way, that some poems don't rhyme, and some
stories don't have a clear beginning, middle, and end. Life is about not
knowing, having to change, taking the moment and making the best of it,
without knowing what's going to happen next. Delicious Ambiguity." 
Gilda Radner

Newest Update

Journal entry by Nena Johnson

I can not describe this place I am in any other way than to say unreal. I sometimes wonder if Reese was ever here or if his part of our life was a dream. That sounds so dramatic, but what we have done the last 13 years feels really unreal. It is hard, some days, to remember what life was like when Reese was here, because he is so absent and before he required so much. I feel like I am just going through the motions most days. I do it well, and no one would know that by watching, but now it's on CB so everyone will. (I am quite positive I will have poster's remorse after I save this) The high alert my brain was on is gone. He is gone from most of my conversations, there is not much to talk about any more; that is hard.  This is a hard reality to get used to. This is not a teary sad, just a heart sad. 

I still can not wish that he was back in his fragile body, but part of me wishes I did. I wish that I would not have adjusted as easily to the freedom we have. Maybe then, I would feel like I am missing him right. It is silly to feel sad about not being sadder. (I know there is no right or wrong with grief. I am just being honest.) I keep waiting for the overwhelming grief to take over because I think that is what I want. I want to be devastated because then, maybe, I would feel like I loved him enough. I know that I did, but then why are parts of this so easy? (that was a rhetorical question, no answers necessary)
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