Friday, 28 February 2014

International Rare Disease Day 2014

The theme of International Rare Disease Day 2014 is “Join Together for Better
Care.”    As  patients  and  caregivers  who  have  been  impacted  by  peritoneal
cancers  (Appendix  Cancer,  Pseudomyxoma  Peritonei,  and  other  Peritoneal
Surface Malignancies) our organizations have chosen to join together to share a
simple message about these diseases.  

This year’s Rare Disease Day Ambassador (, Sean Hepburn
Ferrer, lost his mother Audrey Hepburn to peritoneal adenocarcinoma in 1993
at a time when she was offered precious little treatment or hope.  Over 20 years
after Audrey Hepburn’s experience, one of the greatest challenges with these
diseases  continues  to  be  correct  and  timely  diagnosis  and  access  to  the
Standard  of  Care:  cytoreductive  surgery  plus  hyperthermic  intraperitoneal
chemotherapy (CRS/HIPEC).   In many cases, symptoms are misunderstood for
years,  and  patients  are  thus  less  likely  to  benefit  from  CRS/HIPEC.    This
treatment,  unavailable to  our  patient  population  only  a  generation  ago,  has
turned  what  used  to  be  an  almost  certain  death  sentence  into  hope  for
thousands of patients around the world.  

We share the goal that every patient who presents with the common symptoms
of these diseases – abdominal pain, increased abdominal girth, bloating, hernia,
ovarian cysts or tumors, and ascites – receive correct diagnosis through tumor
marker blood tests (CEA, CA 19/9, CA‐125) and CT scans and be afforded the
option  to  be  treated  with  the  Standard  of  Care,  CRS/HIPEC,  by  a  qualified
surgical  oncologist  before  any  other  counterproductive  and  potentially
damaging treatments are attempted.  

We all share the hope of achieving this  goal, and by joining together  in this
statement and sharing this information, we strive for future patients suffering

from these diseases to receive the better care that they deserve.