Siouxland Magazine - Volume 1 Issue 4

Siouxland Magazine | Inspire /30
either. It wasn’t noticeable to me at first, but then I started
talking with my siblings about it and realizing they also
have the same thoughts of constant fear for tomorrow and
how this isn’t usual. I would lay awake with the thoughts
of what could happen to my family while I slept. I also felt
a different kind of grief than I felt with the loss of Mom,
Nikki, and Dad. This grief was like waves of an ocean.
Grief from loss heals with time. You never stop missing
them, and things never go back to the way they were, but
you find a new normal with each passing moment.
Grief with the diagnosis of a medically complex child left
me with a black hole of what I am supposed to do with
each passing moment. I isolated further from my friends
and have now found that social environments are hard
for me to attend with. The trauma tells me stories of how
people may see me, and my ego is like a terrible twoyear-old
that wants to throw the biggest temper tantrum
known to man and my heart aches for the life I thought I
would be having. I was ready to have a dozen babies, well
not really, but the moment I was pregnant, I knew being
a mom was all I had ever wanted, but now I struggle with
having one child that is so different from what I thought
raising a child would be.
Everett trick-or-treating.
I suppose it happened when Everett’s disease
progressed, and his milestones grew further away from
those of his peers. Friendships of mine strained with
the depression and guilt I felt for the resentment I had
for the life I will no longer be living. It was the biggest
rollercoaster of emotions I had ever experienced.
Shortly after Everett turned one I quit my job to stay
home with him. My motivation was to do whatever it
took to get Everett better and me staying home with him
would do this, so I thought. This was not the case. Shortly
after he turned one Everett started having seizures.
These seizures would rob him of the gains he made in
milestones. It was consistently two steps ahead and five
back. Everett never gained the ability to sit up on his
own, only rolling over one time at seven months old, he
never crawled, and even holding his head up became an
effort we could not imagine. He had the ability to hold
his head up, but the combination of high and low tone in
his muscles made this ability very difficult. He has never
eaten more than pureed food. And swallowing fine
liquids goes straight into his lungs. My days were spent
managing Everett’s care, which included therapy services
and new specialty doctors. When we took Everett back
to the neurologist, I was ready to raise hell with the
statement they gave us six months earlier, “Everett will
be fine, just a little clumsy”. What the last several months
showed us was this is not the truth. To my astonishment,
Everett was scheduled with a different neurologist. We
would live with “undiagnosed” CP as Everett’s diagnosis
until the summer before Everett turned three.
I have heard of PTSD, and I knew the definition of trauma,
but I never thought I would ever be one to suffer from
Summer of 2013 we finally received a diagnosis for
Everett. Beta-propeller Associated Neurodegeneration,
or BPAN. Everett received his diagnosis through
whole exome sequencing. At that time Whole Exome
Sequencing was a very new way of genetic testing, as it
looks at everything. It is spell checking for your genetic
code, finding the miss spelled area of genetic coding. I
did my best navigating our undiagnosed child’s first two
years the best I could, learning most from reading and
learning from other parents through social media. The
one thing that never crossed my mind was that we would
out-live Everett.
After the BPAN diagnosis we asked Everett’s neurologist
what this means for Everett. He said that BPAN was
only discovered a year before, so there is little to no
information on this syndrome. We asked if anyone else
has this diagnosis. What he told us was no, when the truth
was yes, but not many. I found out 3 years later that there
was an entire research group looking into BPAN and had
discovered it while researching another syndrome within
the same family.
Everett had a one in a billion chance of this
happening. These statements should make
me feel relieved, however, anger is all I feel.
Why Everett?
When I finally discovered the research group, we found
valuable information on what BPAN really means. BPAN
is an X-linked syndrome and most males do not survive
pregnancy. Everyone that has the BPAN diagnosis has
seizures. This syndrome is also neurodegenerative.
Everett is deteriorating right in front of us with each