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My story began in June 2009 when I found out that the word “genes” can mean more than something you wear on the weekends. The symptoms that would lead me to a startling discovery started right before my 29th birthday. I had long, heavy menstrual cycles for months that were blamed on generic birth control or hormones. In a visit to my gynecologist a polyp in my uterus was found. With my mother’s history of endometrial/uterine cancer I figured my doctor at the time would look deeper into my symptoms. He didn’t. I waited a few months, but my conditions grew worse.

At the time, I was scheduled for surgery in February 2010 with no concerns that I had anything to worry about. I was house shopping with my boyfriend and looking towards our future. I was young, full of life, and nothing could happen to me, right?

Wrong.

Little did I know that my life was about to change. The words of my doctor will forever be burned into my brain as I sat at my desk on what was supposed to a typical work day and heard my doctor say, “The results came back that the polyp was covering your entire uterus and it's cancer.”

Getting to Know my Genes

Calming down from the shock, I had to tell my family the worst news of my life – that I also developed endometrial/uterine cancer. Despite my shock, fear, and anxiety I immediately sprang into action and became my best advocate. I did my research, and spoke to my mother about a rare genetic disease that she had recently been diagnosed in a recent biopsy – Muir-Torre syndrome (a form of Lynch syndrome) that knowingly affects 1% of the population.

My mother visited with genetic specialist, Anil Rustgi, MD, Chief, Division of Gastroenterology, Penn Medicine, and he and his team concluded that she in fact had this genetic mutation with a 50% chance of passing this disease onto her children. There have been two genes linked to Muir-Torre syndrome - MLH1 and MSH2. Once Dr. Rustgi knew of my uterine cancer he quickly had me tested and found that I possessed the MSH2 gene, explaining my recent cancer diagnosis. I met with Dr. Rustgi and began a preventive care regimen that I will have to follow the rest of my life.

My genetic mutation was explained to me as hiccups or misspelled words in my genetic repair cells creating a high-risk of many cancers. This includes an 80% chance of developing colon cancer, 60% uterine, and a greater risk of others such as stomach, bladder, urinary tract, prostrate, liver, ovarian, and various skin cancers.

Informed, Taking Action

With all of the new information about Muir-Torre I did not want to take any chances and by Spring of 2010, I decided to get a second opinion of my Stage 1 endometrial cancer. I had been placed on high doses of medication that was supposed to suppress the cancer long enough to possibly preserve eggs as I had not yet had children. Unfortunately, my condition was worse than expected and I had to make the decision to abandon my dreams of starting a family and prioritize based on my survival. My surgery was scheduled for two weeks before my 30th birthday.

My gynecological oncologist asked if I wanted to leave one ovary as a sliver of hope to still have children. Knowing the risks of Muir-Torre, I ended up making the best and most difficult decision of my life to remove everything in a total hysterectomy which included my ovaries. The moments before heading to the operating were the hardest as tears rolled down my face and I said goodbye to my parents and my supportive boyfriend of almost eight years. I felt like my life was over and I was scared to see where it was would lead.

After the surgery I had many complications and found out a couple weeks later that I also had Stage 1 ovarian cancer in my left ovary. The news was hard to digest, but thankfully my gynecologic oncologist at Penn’s Abramson Cancer Center and his team shared that I did not need to have radiation or chemotherapy due to both separate cancers being contained in their respective organs. I was very lucky as most women with ovarian cancer do not know they have it until it’s progressed.

Cancer Free

Today, I am now almost four years cancer-free and cannot express how proud I am of myself to have come so far. I feel as though my mother saved my life because without the knowledge of the Muir-Torre genetic disease my outcome could have been very different. Still, I face many side effects that challenge me every day including chronic stomach pain, weight gain, and the inability to have children. I require a yearly endoscopy/colonoscopy and urinalysis plus visits to the Abramson Cancer Center’s Steven Fakharzadeh, MD, PhD, Director of Genetic Disease in the Dermatology Department.

Dr. Fakharzadeh is a specialist in genetic skin disorders and he screens me for skin mutations that can occur with Muir-Torre syndrome. During some check-ups with those doctors I have had to undergo procedures, treatments, and biopsies adding to my already difficult situation. I know I will not ever be the person who I was, but I am fighting really hard to be the person I want be in the future. I never let the negativity consume me. I still live my life as much as I can and continue to add new milestones every day.

Awareness for Muir-Torre and for ovarian cancer have become very important to me. I’ve been involved in walks, seminars, and share my story with others in hopes of making a difference. I know I can still look forward to getting married, furthering my career, adopting or using a donor egg, and achieve my dreams and goals. I know my illness will always be a part of me, but it does not define who I am.

Lessons Learned

The most important lesson I took away from this whole experience is that instincts and preventative care are the keys to survival. Without knowing of my mother’s genetic disease, I might have thought uterine cancer was the only genetic link and not opted for a full hysterectomy which led to the ovarian cancer discovery. In addition, my mother and I have been encouraging our family to get tested to see if they too could be at risk. My uncle who actually tested positive would not have gone for a colonoscopy last year if he wasn’t aware of this mutation. His results showed a benign polyp at age 49, an age below the time frame for routine testing which would have put him at risk if he didn’t get tested early.

If I helped just one person think twice about their own family genetic makeup or current health status, then I can know that despite everything, I made a difference. The best advice I could offer is to stay positive no matter how much it tears you down, fight for the life you deserve, and be proactive because no one at any age, class, or race is invincible to cancer, disease, and illness. Who knew how much a pair of genes would change my life!