Rare Disease Day 2013


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!

Check out the video below for more on Rare Disease Day 2013.   (I always have loved Annie Lennox and the Eurythmics!)

6 thoughts on “Rare Disease Day 2013

  1. Just wanted to tell you that I am very impressed with how your journey has gone. My husband is currently in a similar fight – though his cancer was not as advanced as yours. Also non-mucinous appendiceal adenocarcinoma. His was stage IIa when they did his appendectomy in October 2012. They thought it was a mucocele tumor. They also scraped his peritoneum at that point (everything clean – margins, lymph node, etc). They highly recommended a right hemicolectomy and after 6-8 opinions, we went ahead with it. Dec 5 he had his surgery and Dec 7 we got the news that all tissue was free of disease and all 22 lymph nodes as well. He’s now in cycle 2 of 5-FU + Leukovorin. We go for 5 days, then 3 weeks off, then 5 days, etc – we’ll do that for 6 cycles. I was so happy I found your blog about life *after* cancer and treatment. Thanks for sharing your story and putting it out there for people like me to find!

  2. I would like some feedback. I too was diagnosed with Stage IIa non-mucinous adenocarcinoma, discovered when my appendix rupturedon 11/11/11. I had a right hemicolectomy on 12/14/11, but my peritoneum was not scraped. All my lymph nodes were clean, and the oncologist opted not to do any chemo, radiation, etc.

    Since that time, I still have debilitating fatigue, my abdomen alternately bloats and then recedes a little bit. My hemoglobin counts go up and down (I see the oncologist every 3 months now), and I have swollen ankles and feet. More worrisome though, is the pain that I have continuously in the liver and gallbladder area. Several scans have been done, and nothing was observed. Finally after an MRI, the radiologist reported seeing “large masses”, on the liver and abdomen…. but the Oncologist disagreed (said he couldnt feel any masses when he palpitated my abdomen), so he got a second opinion from another radiologist who suggested the masses were “shadows from the film” and not tumors or cysts.

    Mind you, I want to believe there’s nothing to worry about….but as you all know, once you have a diagnosis of cancer, your mind does crazy things. Should I investigate this further??? Go to, say, Sloan Kettering, the Cancer Treatment Centers of America, or look for an Oncologist who specializes in this rare type of cancer?? Your feedback would be greatly appreciated…and I pray that we all are victorious over this rare cancer..Thank you!

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