i sat in a small white office before an esteemed doctor who would finally end
the long mystery of my failing body.
i expected a door to open.
a name would be spoken and a path,
no matter how arduous would be offered.
i did not expect a miracle, a bright ending. yet i believed i would move forward,
there would be chances for fulfillment,
and hope would accompany me.
i don't remember his face but his words
never fail to astound me...
"pompe, a rare genetic metabolic disease. i recommend you go home,
place your papers in order, do all the things you have ever dreamed of doing.
just do not ever hope
for a treatment or even research.
what you have is known as an
there is no profit to be gained in
understanding or treating a disease that effects so few."
arduous fight for life and the daily search for
i will cut right to the chase and assure you
the "good" doctor was completely wrong on all accounts.
there was a wealth of comprehensive research,
the possibility of an enzyme replacement therapy in the works, and
Genzyme, a biotech company that believes people who suffer the unique
challenges of a rare disease
are worth their attention and investment.
from my date of diagnosis it was nine long years until that
ground breaking enzyme replacement therapy was available.
through research, brilliant minds and the dedication of Genzyme,
Pompes disease became the FIRST muscular disease to
be offered a treatment.
but one answer is not enough.
there are countless others who need an open door, the hope of
research and the reality of treatment.
i am embracing every parent who wonders what horizon waits
for their suffering child.
i am turning away from the isolating nature of "rare"
and calling out for
i am walking to comfort all those waiting.
i am walking in honor of believing in each persons innate longing for
wholeness and a chance at living healthy fulfilling lives.
i am walking to eradicate the words
" do not ever hope"
and i am asking you to
walk with me.
if you cannot physically join in
please consider offering your support by following this link...
"search for a participant"
and typing in
all monies raised are going to support life saving research.
perhaps you will consider posting a link on your blog and
helping spread the word.
there are a million ways to share hope.
we can all be a part of a brighter future.