Our Disease....

Glycogen Storage Disease Type II aka Pompe
Disease is an inherited neuromuscular
condition that is caused by an incorrect or
missing enzyme. In Pompe disease, the
enzyme is called acid alpha glucosidase and
it's job is to process stored glycogen into
glucose so it can be used for energy. It is this
unprocessed glycogen that builds up in the
bodies muscles cells and over time causes
these cells to loose their function. The disease
affects  skeletal muscle as well as Cardiac and
smooth muscle. In infantile patients like
Phoenix, it is the cardiac and breathing
muscles that can ultimately cause the death of
those affected by the time they reach one year
of age.

It is because of this muscle damage, that
persists throughout the entire body, that
makes it impossible for Phoenix do many of
the simple tasks that the rest of us do in our
daily lives. Most notably, Phoenix is unable to
breathe without the assistance of mechanical
ventilation. He cannot walk, bear any weight on
his legs, and he is unable roll over while lying
on the ground. He cannot talk or eat because
all the small muscles in his throat and mouth
are also affected. It is all of these deficiencies
that make life not only difficult but at times life
threatening. However, I must say, we are not
alone in our fight. There is a projected 10,000
people world wide that are affected by this
form of Glycogen Storage Disease. It is with
the support of this world community and the
friends and family surrounding all of these
affected individuals that we hope to change the
outcome that so many have faced in the past.
        Above are various pictures of           
     Phoenix through different stages         
     of his life













Left is a picture of a portion of the
pompe community at a conference in
Heidelberg Germany in Nov of 2003.




~POMPE~
In April of 2006 I was able to visit Genzyme Corporation and
go on a tour of their manufacturing facility in Allston MA.
Genzyme produces Myozyme, the medicine that allows
Phoenix to still be with us today.
Myozyme transport vessel.
Entrance to manufacturing facility.
This is a NORD tribute banquet in
Washington DC in 2006. I think Abbey Myers
should be president, she is the founder of
NORD (National Organization of Rare
Diseases)
I am pictured from left to right with David
Meekers, vice president of Genzyme, - I
forgot who the lady in the blue dress is, she
was great though, -Me, - Tiffany House,
decked out in red, - Randall House, the
Houses are the founders of the AMDA and
did more for Pompe disease than just about
anyone, and -Jamie Magdello (sp) she is
with patient advocacy with Genzyme, she is
awesome.