The Journey Begins by Charlie Lonidier

The Journey Begins

Part 1: Being Tested for BRCA II

I discovered I had the BRCA gene mutation shortly after my oldest child was diagnosed with Stage 2 breast cancer. She was 29 years old at the time. Learning your child has cancer is like getting getting kicked in the crotch and punched in the face at the same time.

My daughter's oncologist met with the family to describe treatment, and she recommended all family members be checked for the BRCA gene mutation. Blood or saliva specimens were collected from each of us and sent to Myriad Genetics for testing. At the time, Myriad Genetics Inc. held the patent for the BRCA gene; therefore it was the only laboratory providing BRCA gene mutation testing. The cost was about $3,000-$4,000 per person.

Fortunately, our respective medical insurance companies (Blue Cross/Blue Shield, Humana, and United Health) paid for the testing. Shortly after our testing, the Supreme Court ruled the BRCA genes cannot be patented.

"A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated......"
Click here to read more about the Supreme Court ruling.

As a result of the decision, the cost is now a more reasonable $250 per person. In addition, laws enacted during the Obama administration prevent insurance companies from disallowing the use of insurance due to preexisting conditions.

Part 2: Healthcare after BRCA II

We were scheduled to meet with the oncologist and genetics counselor once the results returned. It was at that meeting I realized the importance of defining roles, responsibilities, and taking copious amount of notes. It is amazing how numb we were after learning the results. I hardly remember anything after hearing my children and myself had inherited a deleterious BRCA II gene mutation. I was sickened by the thought of passing on such a devastating condition.

I learned from the genetics counselor that BRCA means all reproductive tissues, not just breast tissue, are at a higher risk of growing cancer cells. Regardless of sex, it is important to maintain preventive care if you are positive for the BRCA or BRCA II genetic mutation.

My daughter's oncologist became the family oncologist. We were scheduled for annual mammograms and breast exams by the oncologist. MRIs became an annual thing for my daughters. In addition, our primary care physicians and gynecologists now perform semi-annual BRCA checks.

In my situation, my primary care physician (PCP) is my source of guidance for anything medical. She tends to defer to the oncologist for any suspicious BRCA related findings but for my overall general health, it's my PCP who is in charge. The oncologist is the center of my BRCA medical support team. I ensured that the other medical specialists I see are completely aware that my PCP is the go-to person for all things medical. BRCA related findings are also sent to the oncologist.

It is critical for a cohesive team to define roles and responsibilities, and to clear up any ambiguity about the types of screening and testing they can provide for their patients.

I begin my year with a physical from my PCP. She does my physical exam, testicular exam, and prostate exam. A few months later, the oncologist does an annual breast exam and places the order for my annual mammogram. I try to get the mammogram completed within 30 days of my oncology appointment. My year is broken into quarters:

Q1: Physical exam with PCP

Q2: Oncologist exam/Mammogram (Man-o-Gram)

Q3: PCP - BRCA check/blood work

Q4: Dermatologist (increased melanoma risks)
Urologist (increased prostate/penile/testicular cancer risks)
Endocrinologist (maintaining thyroid and hormonal health)
Nephrologist (maintaining kidney health).
These appointments should also monitor my pancreatic health.

Copies of all results are forwarded to my PCP so we can discuss next steps if necessary. If all goes well, we repeat the cycle the next year. It is imperative that my support team speaks with one another and shares any results with my PCP. She is the center of my healthcare. That said, all parts are integral to one another - they need to work together like a machine.

What is most important is transparency. There is no usefulness in withholding information because it may be embarrassing. These individuals have spent years dedicated to their specialties so they can help people live healthier lives regardless of how difficult the conversations may be.

This also carries over into your relationship with your family members. As I said, my daughters and I share this BRCA II mutation. We speak openly about our healthcare and bodies and do not allow stigma or shame to enter the conversation. One daughter has lived through cancer including chemo, radiation, and several surgeries. Another daughter has undergone prophylactic breast surgeries. I just completed my prophylactic cancer risk-reduction bilateral mastectomy. I hope to have more on my experience published in coming days.