This morning, I diagnosed a 49-year-old female with stage 4 colon cancer. She will probably not be alive in 5 years. She could have possibly prevented this diagnosis if she had known her family history. Many people don’t know the health history of their family. This holiday season is a perfect time and opportunity to delve into this history and prevent more senseless deaths.
The apple really doesn’t fall too far from the tree. When it comes to genetics, neither does health. The fact remains that, while a person’s genetic makeup is not the sole determining factor of health, it does account for up to 30 percent of a person’s chance of surviving and having a long life. Genetics can contribute to longevity and health by creating changes in the genes that will either predispose for or protect against certain diseases. But are familial diseases actually discussed in families or does the code of silence prevail?
Genes can influence the presence of up to 2,000 diseases including heart disease, stroke, cancer, liver disease, alcoholism, and even depression. Many of these diseases can be prevented or even treated and controlled if caught early. For example, the risk of breast cancer in the average woman in the United States is roughly 12 percent. In those patients with abnormal BRCA1 or BRCA2 genes, that risk can rise to 80 percent. In another example, if not treated, patients with familial adenomatous polyposis, which is an inherited disorder in which a genetic mutation leads to a multitude of polyps throughout the gastrointestinal tract, have nearly a 100 percent chance of developing colorectal cancer.
Unfortunately, it is not possible to know the family history in every individual. Some children have been separated from parents either by adoption, death of the parent, or even an intentional separation of one or both parents from the life of the child. I would argue that a greater focus on preventative care, more strategic management of current diseases, and even targeted genetic testing are valuable tools in these persons.
For everyone else, it is imperative to have open and frank discussions regarding the major illness and causes of death for parents, siblings, grandparents, aunts, and uncles. I encourage patients to ask about medications, prolonged hospitalizations, major surgeries, mental health illnesses, and even drug and alcohol addictions. Get specific and ask the tough questions. Forget guilt or shame. Knowing the family history can reveal inherent health risks in a person and could lead to offering better preventive care and lifestyle changes to reduce those risks.
Other health care issues should be incorporated into the conversation. Families are often left to discuss palliative care plans for patients at times when the patient is incapacitated and unable to wholly participate in the discussion. So, what are their wishes regarding feeding tubes? Would they want to be placed on a ventilator? If their heart were to stop or if they were to have respiratory failure, do they want to be resuscitated? Most people do not consider these to be pleasant conversations, but they are certainly necessary ones to have. Knowing this vital information better equips the family to make end of life health care decisions without added frustration or unnecessarily feeling as if they were doing something wrong.
On more than one occasion, I have cared for patients and their families who failed to secure a definite end of life care plan prior to their loved one becoming critically ill. It is a painful process to watch families first accept the fact that death is imminent and in the same breath, determine when that last breath will be taken by discontinuing ventilator care. Alternatively, I have witnessed families who had those tough conversations prior to being placed in the situation of discontinuing critical care. In those cases, the decisions to execute the prearranged plans were fundamentally and seemingly made with less feelings of guilt.
This holiday season, approximately 90 percent of Americans will pass the turkey as they celebrate with family and friends. These gatherings present an opportunity to have full, uninterrupted access to family members that may otherwise not be seen throughout the year. It is practical to discuss the family medical history and even end of life issues when everyone is in the same place at the same time. By this, everyone in the family has space to express concerns and resolve conflicts regarding intended plans. Why not take advantage of this time to not only pass the turkey, but to also pass the family history around the table?
Each family should talk and delve into the health issues that matter this holiday season. Unearth the hidden medical histories of the family. Write them down. Take the collected histories to healthcare providers to incorporate into the medical record. By doing so, more family members may be around for holiday dinners for many years to come.