Angelman Today November / December edition 2013 | Page 33

In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Max’s right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed. The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed.

After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity. On the downside the
diaphragm does not function
properly. As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year. We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists.
Time marched on, we returned
back to NJ. Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones.
We spent the next few months in
and out of specialists’ offices and
were receiving a similar response,
“Max is doing as well as you
could expect given all he has been
through, it is not abnormal for him
to have some delays.” One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our

pediatrician. This is when things
changed with our Doctors’ visits. We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine.
The visit with the genetic “team”
was very different. For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it!). When we were
invited into the office, it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in. That’s
when I recall muttering, “uh-oh” under
my breath as the hairs on my neck
stood straight up.
Introductions were made while we
braced ourselves for what we were
about to learn. “Mr. and Mrs. Kraft,
we have the results of Maxent’s
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delays…….Max’s results reveals he is
missing a part of gene #15 which we
know to be the genetic disorder called
Angelman Syndrome…..” Freeze
frame!
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists. Shock ,
fear, denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon.
When I finally heard English, “do
you have any questions….”? That’s
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil

dragons to bring some order back
into my panicked mind.
“Does he have a normal life
expectancy? Is it a degenerative
disorder? Will he need surgery?
What kind of therapy will he need?
How do we get it?”
She immediately grounded me and
brought sense into the shocking
news we just were presented.

The genetic counselor, in a
soothing voice asked me, “Mr.
Kraft, I know this is a lot to take in,
what are you feeling….?” I thought
for a second and was completely
blank, I fumbled out something
like, “I don’t know yet, you just
told me my child is handicapped”.
In hind sight I should have pointed
to my wife and said…..ASK her
SHE’S IN CHARGE!” It was
shocking news to say the least. It’s
a day I’m sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift.
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family. I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet, practically
congratulating us! Bracing us for
the road of eye gouging, hair
pulling, pinching and slobbering we
were on our way to travel.
It’s not an easy road we travel but
it sure is fun! We have learned
some much taking care of Max. All
the Angels out there are an amazing
force of love and goodness. We are
all blessed to have them. We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential. Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road.