Meet David

I will try my best to explain my mothers and my own story with Cowden’s Syndrome.  My story is one of grief, knowledge, redemption, and hope for better future for people such as myself affected by this condition.

I never knew my birth father, so I think it’s fair to say my mother was like a rock to me. Her health problems started at age 11 with a Thyroid operation which was followed by problems with her breathing and throat which for a period was considered normal because we were unaware that it was a problem for her. It was almost like a part of her personality! She had surgery again on her thyroid in her 40s, and it wasn’t until she was 50 that she was diagnosed with Thyroid cancer and five years later a Cowden Syndrome diagnosis.  My Mom’s disease and cancer diagnosis impacted her severely with it spreading to her hip and lungs in the end with also a benign tumor in her brain. Her mental well-being was affected as well with her having to take antidepressants.

Looking back, it took a lot out of her, but she still wanted to do the things she enjoyed even though they maybe weren’t right for her health! I remember feeling helpless and frustrated that I couldn’t do much to help her. I can recall a conversation where I said I don’t know what to do but I always listened to what she said when she needed support which I hope she appreciated.  She gave me a letter shortly before she passed away with details of how to get tested for Cowden’s as she informed me of the details about it. At the time I couldn’t face the possibility of what this may bring, but since she passed away, I realized how important this letter was. She was giving me the potential to be an advocate for my health. I got tested and found out that I had CS then shortly after got my daughter tested and fortunately, she doesn’t have it. I’ve slowly been sorting out my health in the past year with screenings done, specialist visits, and I attended the PTENUKI event in London last year, met with people affected by Cowden Syndrome and started to get involved with charity work for PTENUKI.

Cowden’s has given me some of the answers to my mother’s health problems which had been with her for a long time. It has been something I haven’t always wanted to face up to regarding my mother and myself because Cowden Syndrome was the reason for my mother’s declining health and the loss of her. I suppose the only good thing to come out of this loss is with an early diagnosis she has helped me possibly have a better future. She has left her legacy that has now given me knowledge, PTEN support, power, and proper education to look after my health and take advantage of all the opportunities that she and others with the same condition to her haven’t had.

My name is Andrea Beilstein, and I am 48 years old. 24 years ago, I married the love of my life, Del.  We have four awesome kids, Caleb 22, Tanner 20, Caden 17, and Kegan 15. I found out I had the PTEN mutation about 13 years ago, and I’ve learned a great deal about its potential influence on my health and my family’s health through the PTEN Hamartoma Tumor Syndrome (PHTS) Foundation.  This knowledge helps us be more aware of how our past conditions and potential for future diagnoses are linked, enabling us to make better decisions about monitoring and preventative health care.

My mom was diagnosed with stage 4 breast cancer when she was 42 years old. She underwent a double mastectomy and followed up with 12 months of chemotherapy which put cancer in remission. At her 5-year mark she was cancer free, and at her 10-year mark, she was still cancer free!!  But shortly after her 16th year in remission, she started having pain in her bones and was diagnosed with metastatic breast cancer in her bones. She was on and off chemo for about another two years and was hospitalized for a complication. During her stay, she fell and hit her head and passed away a week later. She was terminal, in a lot of pain, and she didn’t have much time–so her fall was probably a blessing in disguise.

I was diagnosed with Graves disease at age 31, which caused me to miscarry while trying for our fourth child. After successful treatment for Graves, I became pregnant again and successfully carried our fourth child to term. In the meantime, my sister was diagnosed with Hashimoto’s thyroiditis, had a thyroidectomy and shortly after that a hysterectomy.  She wanted to find out why these thyroid issues were happening to our family and pursued genetic testing. She lives in Ohio, and after testing positive with PTEN, she consulted the PTEN Team at The Cleveland Clinic. I was still moving around the U.S. because my husband was an Army, helicopter pilot. Upon recommendation from Cleveland Clinic, my brother and I were also tested and confirmed for PTEN.  I was asked to join the study, but at that time my husband was deployed to Iraq, and I had four small children at home, so I never pursued it.

Two years ago, my husband’s 45-year-old sister passed away from breast cancer. His mom and grandmother also passed away quite young from breast cancer, so he and I went back to a geneticist and got tested for the BRCA gene. We were thankfully both negative, but the geneticist referred me to Cleveland clinic again and to the PTEN foundation.  I decided it was time to learn more about PTEN and become my advocate because many doctors are not knowledgeable about PTEN mutations. Living in Madison Alabama, I was lucky enough to attend the International PTEN Patient Symposium this past March and finally met Kristin Anthony, President and founder of the PHTS Foundation! We heard presentations from the most knowledgeable physicians from around the world and were able to ask a specific question and receive expert feedback from them directly. We were able to share stories of triumph and encourage others that are going through a difficult time because of our rare genetic disorder.

I continue to seek information about PTEN, the conditions for which I must remain vigilant, and realize that there is much to be learned.  The possibility that a cure will be realized in our lifetime keeps me fighting this disease!

I am a survivor!  My life struggles include a mastectomy with capsular contracture, infections, hysterectomy, reconstruction, oophorectomy, thyroidectomy, 20+ surgeries, and countless tests and hospital visits. Also, the Inability to work. Taking all my stuff in a couple of garbage bags, leaving an unfaithful ex with my dog by my side, begging my mom to let me stay in her living room. Having just had thyroid surgery and absolutely no revenue. Having a doctor tell you that need to have both your breast removed at 22 years old, the same week you had surgery for a stage 2 melanoma and having a bunch of sentinel lymph nodes removed from your thigh. A lot to deal with and all while that while finishing my bachelor’s degree in social work. These are some of my life struggles, though there are many more. I often wondered how I would ever feel calm and look forward to an optimistic future.

October 2015 I received an email that would change my life forever. A young, handsome man diagnosed with Cowden’s syndrome in Ottawa. He had questions. He wanted to connect with a fellow PTEN patient. He searched on the internet and found my face on a newspaper article, alongside my canine partner in crime, Bambou. I think he knew at that time something I didn’t. He was looking at his future family.  He contacted the journalist who gave him my email. The rest is history. We connected in a way I couldn’t be with anyone. He made me feel whole again, with the scars, the chronic pain, my university diploma sleeping somewhere in my closet, my fear of the future. Sacha made me feel I was worth it. We understand each other and have a great deal of fun together. I met the man I am going to marry, and we are one in 400 000.

I can safely say I have learned to live my best life with my best friend by my side. I am happy with what I have, and I look forward to a long future together.