Show Your Stripes

The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes, which are central to its uniqueness. Everyone has his/her own stripes, those characteristics that make each individual distinct. While each of the more than 7,000 rare diseases are unique, there are many commonalities that unite the rare disease community.

This was not a community I ever wanted to join, but the people I have met along the way through different social media platforms are just amazing. We are a large group of zebras supporting one another. The best advice I can give anyone with a rare disease is to find others fighting it. I will never stop fighting appendix cancer in some form or another, whether for me or for others. I am eternally grateful to now be a resource for others. Thanks to my amazing surgeon, Dr. Mogal, I do not live in fear from scan to scan. I live my life and leave the worrying to him, as he instructed me to do three months after HIPEC when I had my first set of clean scans.

Appendix Cancer

Estimates vary, but all tend to be within the category of “extremely rare.” Appendix Cancer was once thought to be diagnosed in about 1,000 people worldwide each year. In other words, the lifetime odds of being diagnosed were thought to be about one in a million. However, specialists now believe it is more common than once thought, closer to one person diagnosed per 500,000 people per year

Recent research indicates that the incidence of appendix cancer may be as high as 10 people diagnosed per million per year.  The number of reported cases has increased over the past decade, but it is not certain whether incidence of appendix cancer is actually increasing or the rate has changed due to likely misdiagnosis or misclassification in the past.

It is listed among the rare or “orphan” diseases acknowledged by the National Association of Rare Disorders (NORD). An orphan disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

Orphan diseases such as Appendix Cancer have such a low prevalence in the general population that a doctor in a busy general practice is unlikely to see more than one case a year (if any). It also means that most pathologists see the disease infrequently and may misinterpret cell pathology, resulting in an incorrect diagnosis. Patients would benefit from improved awareness and diagnostic methods in the medical community through earlier detection and treatment of these diseases.

I will forever and ever be so grateful that I was properly diagnosed and was seen by an appendix cancer specialist right away. I can’t imagine where I might be today if this was not true. I keep reading other people’s horror stories of doctors who know nothing about this disease and tried to treat them. I was treated immediately and correctly. This probably saved my life.

One of the greatest challenges with peritoneal surface malignancies such as pseudomyxoma peritonei and appendix cancer continues to be correct and timely diagnosis along with access to the “Standard of Care” treatment now available to treat this disease: cytoreductive surgery plus hyperthermic intraperitoneal chemotherapy (HIPEC).

In many of these cases, relatively common symptoms such as abdominal pain, increased abdominal girth, bloating, hernia, ovarian cysts or tumors in women, infertility, and ascites are misunderstood for years. When patients are misdiagnosed, they are less likely to benefit from CRS/HIPEC, and even with a proper diagnosis, many patients are never even offered it.

The underlined symptoms above are what I had. Fairly benign, but I knew something was wrong. I listened to my body. I also had a primary care doctor that listened to me and took me seriously.

This treatment, unavailable to our patient population only a generation ago, provides hope for thousands of patients around the world. CRS/HIPEC has been shown to provide long-term survival in up to 90% of patients with low-grade PMP pathology who are properly diagnosed and undergo this treatment early enough in the disease process to offer maximum benefit.

This surgery is life-saving. It is also scary, intense and long. Many people have long term side effects they are dealing with. Once again, I am so lucky to be healthy and active and back working. Many of the others I talk to are not so lucky.

My super badass scar from my surgery!

Greater awareness of this disease and the proper treatment along with proper diagnosis via tumor marker blood tests (CEA, CA 19.9, CA-125) and CT scans or MRIs will hopefully give every patient with this disease the opportunity 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 such as unnecessary surgery or systemic chemotherapy for low-grade disease.

Info from the ACPMP Research Foundation and NORD, the National Organization for Rare Disorders

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