Our Disease....
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| 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.
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.
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
of the United States!, she is the
founder of NORD (National
Organization of Rare Diseases)
-pictured from left to right - David
Meekers, vice president of
Genzyme, - I forgot who the lady in
the blue dress is, sorry, 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.
Washington DC in 2006. I think
Abbey Myers should be president
of the United States!, she is the
founder of NORD (National
Organization of Rare Diseases)
-pictured from left to right - David
Meekers, vice president of
Genzyme, - I forgot who the lady in
the blue dress is, sorry, 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.