More Than A Medical Oddity

I was born with a disease though no one knew it at the time. When I was an infant there were physical signs of the condition but then, as now, most physicians knew nothing about it. Cowden Syndrome is a genetic mutation of the PTEN gene. The PTEN gene controls cellular death through release of a protein. In other words, my cells have faulty brakes.

When I was nine years old, I was diagnosed with dysgerminoma. We were asked the usual questions about if anyone else in the family presented like me. Our standard answer was my paternal grandfather and his uncle both died from colon cancer. We also knew this family produces offspring with larger than normal heads and we laughed without realizing it is a characteristic of a disease.

In 1986 (when I was nine years old) the surgeon located the dysgerminoma tumor and removed my right ovary. We thought this was the end of my cancer experience. We did not realize I would relapse in 1992. The cancer became a huge part of my life. I was too scared to live at times.

After the relapse, many more health scares occurred. I had lesions on my brain, my breasts, my uterus, my ovary, and my thyroid gland. During the 1990's my doctors were not willing to take a chance on these lesions being cancer so each new lesion brought another surgery.

I gave birth to my children in 2003 and 2005. At the time, I did not know the cancer scares were a genetic condition with 50-50 odds of passing it on. I was officially diagnosed with Cowden Syndrome in 2007. In early 2008 I had a mastectomy to prevent breast cancer. In pathology they found cancerous tissue in my breasts. I had ductal carcinoma in situ. In 2009 I underwent removal of my uterus because of the extreme risk of uterine cancer.

After years of debating whether or not to have my children tested for Cowden Syndrome, I chose to even knowing it would hurt if they inherited my mutation. The tests did not take as long as mine. They could look at specifically where my mutation was and see if my children had it in the same place. The results took about six weeks and then, the phone call.

Both of my children have Cowden Syndrome.

Many people ask me how I deal with the scares. My answer is that I have no choice. There is name for what my children and I have and that is more than I had before 2007. Every once in a while when my children are not looking, I will feel their neck or stomach for bumps. My children do not know they have anything that makes them different from others. As time goes on, I will tell them.

Sometimes I get angry about having this condition. Anger never solved anything though. I live life day by day .The future isn't guaranteed for anyone. II believe I have a better outlook than most people because I recognize what is important-living life day by day. Cowden Syndrome is a part of who I am but it is not everything. I'm a Christian, a wife, a daughter, a granddaughter, and a mom to a special little boy and an amazing little girl.