The New Normal: Heather Describes Life with Two Rare Diseases

May 4, 2013

About two years ago, I began to get these odd “pressure” headaches. I didn’t know what else to call them. I described them to my doctor (I knew they were not migraines) that my vision would get shaded, and I would have this thumping sensation at the base of my head. After many tests, the last one was a CT scan where a five centimeter tumor in my cerebellum was found.

I had a craniectomy in July of 2011 that was 13 hours long, and a week later I had to have another surgery due to a CSF leak. I found out that these brain tumors are called gangliocytomas (I have two of them), and they are pretty rare. The condition is called Lhermitte-duclos disease.

From this diagnosis, I was then diagnosed with Cowden syndrome, also known as PTEN Hamartoma Syndrome. The PTEN gene is our tumor suppressor gene. Unfortunately, mine is mutated and puts me at a high risk for many types of cancers, including breast and uterine cancer. Cowden syndrome affects approximately one out of 250,000 people.

Currently I am still trying to find my new normal with these two rare diseases. There are no foundations for either condition, so I do the best I can to raise awareness on Twitter and through my blog, and thankfully I have connected with a few others who also are Cowden syndrome warriors like me. By trade, I am a teacher but that has been put on hold, at least temporarily, due to all the doctor’s appointments and screenings I have to go to. Right now, I spend my time volunteering at a local school and also tutoring an English Language Learner. I am doing what I can to stay busy and hold on tight until things ease up, so I can get back to my “regular” normal.

Submitted by Heather from Hope For Heather.

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