Rare Disease Day 2020

Rare Disease Day 2020

Today is Rare Disease Day 2020

Eight years ago I was a 50-something who took no medicine except Metamucil! I had just made a big career change and got my real estate license. I still freelanced designing websites for local non-profits and artists and like today, I blogged about topics of interest to me and sold web services online.

Today I’m one of the rarest of the rare – someone with two rare diseases!

In November 2012 I was diagnosed with the rare cancer called uveal melanoma, a rare ocular melanoma (eye cancer). Since then I have tried to share information about this disease and encourage people to get annual dilated eye exams because while there are risk factors, there are often no symptoms of this deadly cancer.

This cancer spreads in 50% of patients within the first 5 years. I was diagnosed with MUM (metastasized uveal melanoma) just 2 weeks after my five year anniversary. In December 2017 I received my first treatment for the tumor in my liver, an immunotherapy treatment Ipilimumab (Yervoy) plus nivolumab (Opdivo). In January 2018 I was admitted to the hospital with grade 4 adverse effects from the ipi/nivo treatment. I write about that in an about me page. One of the side effects was a second rare disease, Myasthenia Gravis. Myasthenia gravis (MG) is a rare but life-threatening adverse event of immune checkpoint inhibitors (ICI).

Last month I started immunotherapy treatment again, this time just Nivo. Unfortunately my bloodwork before this weeks infusion showed that I am experiencing adverse effects, there is an enzyme in my blood which shows my muscles are being broken down. So I am watching for any physical symptoms and getting bloodwork weekly. So that is the advice I share these days with my fellow patients, share any unusual symptoms with your oncologists right away because the side effects of treatment can often be treated successfully. Sharing Rare Disease Day is not easy for me because it is a reminder that my days are limited. My rare disease does not have a cure. But hopefully by taking advantage of every possible treatment I can keep living with cancer as long as possible.