Rare Disease Day is here again – 28 February 2013. Congrats on their sixth anniversary!
This year’s slogan “Rare Disorders without Borders” emphasizes the need for international cooperation to find drugs and treatments for the 6,000 to 8,000 rare diseases/disorders. The lack of scientific knowledge and quality information on each disease often results in a delay in diagnosis. The need for appropriate quality healthcare magnifies the inequalities and difficulties getting access to treatment and care. And because of the broad diversity of disorders with relatively common symptoms, initial misdiagnosis often occurs. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.
Raising awareness, educating the public, and channeling research funds to improve knowledge of the conditions and the eventual development of drugs/treatments for these orphan diseases will change lives forever! No time like the present for forward momentum and providing the resources needed to help make breakthroughs for so many of these diseases.
The cause is near and dear to my heart, due to my “surplus” of rare diseases: appendix cancer and arteriovenous malformation (AVM).
My brain AVM (still there and acting up) is listed on the Genetic and Rare Diseases (GARD) list of rare diseases. There are only a few options to treat AVMs and more research needs to be done to fully understand and develop treatments. Thankfully, The Aneurysm and AVM Foundation’s (TAAF) goal is to direct money where it is needed — into research and public education — and I happily support them. In my ongoing journey with this disorder, I have been fortunate to make friends and share our AVM journeys. It is a blessing to all of us since it can be isolating to have a rare disease or disorder. Especially, when I have to make decisions about how to treat it without many good options or a support network.
My appendiceal adenocarcinoma is also on the GARD list but I am one of the lucky ones (gone, no evidence of disease for two years). Unfortunately, the treatments for appendix cancer are few and no specific drugs have been developed to target this cancer. Some good friends have relapsed and are running out of options. Too many people have suffered from this orphan cancer. Help is needed NOW!