If you've been following me for a while, you know that I write on this topic every year. If you just type in "Health" in the blog search box above, you'll come up with the blogs I've written since I re-vamped the site in 2018. Since 2004 the Surgeon General of the United States has declared Thanksgiving Day to be Family Health History Day. Why that day? It is the day that most families get together and what better time to discuss the topic that affects all of us.
When I began my genealogical journey, one of the questions I was looking to answer was where did Cystic Fibrosis appear in my family history. My niece was diagnosed with Cystic Fibrosis (CF) in 1969 at 3 months old and died in 1974 at the age of 4. Today, CF patients live into their 50s and sometimes longer. CF is a recessive disease meaning that both parents must carry the gene and pass it to the child in order for them to have the disease. If only one parent passes on the gene, the child could be a carrier but not have the disease. That meant that both my older sister and her husband carried the gene, and that there was a one in four chance with any subsequent pregnancy that the child would have the disease. At the time there was no test for a carrier. In the 1990s a test for carriers was developed and I discovered I was a carrier. My younger sister is not. Of my three girls, the oldest and youngest are carriers, my middle daughter is not. This is likely not a surprise to you today as we have become well educated on how DNA passes down.
As research continues in all areas of medicine we are constantly learning about genetic connections to other diseases. In addition to just running in families, some diseases run in ethnic groups. For example, Cystic Fibrosis is primarily found in Northern Europeans and Ashkenazi Jews. Ireland has one of the highest incidences of CF as well as Celiac Disease. Sickle Cell Disease is found predominantly in African Americans and in 2023 the FDA approve the first gene therapy )using CRISPR to treat this disease. Tay Sachs is found primarily in Ashkenazi Jews, French Canadians of southeastern Quebec, the Old Order Amish of Pennsylvania, and the Cajuns of southern Louisiana. There's also another phenomenon with these diseases. Those with CF have an immunity to Cholera; Sickle Cell to Malaria; and Tay Sachs to Tuberculosis. During the Cholera epidemics in the 19th century, those who carried the CF gene survived in greater numbers intensifying the gene pool. Today, most early pre-natal tests, as well as newborn screenings test for these genes.
We now know that many cancers, mental illness, Alzheimer's and other diseases are linked to genetics. Many of these illnesses are also multi-factorial, meaning there is a combination of genetic and environmental factors. Just because you carry a particular gene does not mean you will develop the disease. Conversely, if you don’t carry the gene, it doesn’t mean you won’t get the disease. There has been much written lately about increases in the rate of cancers in young people and as yet, there is no known reason for this. At 42 my oldest daughter was diagnosed with breast cancer…she has no genetic markers for cancer. At that time, my youngest daughter was 37 and her doctor put her on a 6 month schedule for mammograms. Last November she was negative, but in May was diagnosed with breast cancer at 40. Her cancer was a different type from her older sister, and she also has no markers for cancer. Because of the early detection her prognosis is good but because her type was very fast growing, she is being treated aggressively with 20 weeks of chemo plus 8 weeks of radiation. Both girls have been enrolled in a Cancer Study by their geneticists.
The more you know about your health and the health history of your family the more proactive you can be about your own health. Early on in my research, l discovered a history of stomach cancer in my family...both maternal and paternal...that went back four generations. When I first tested in the 1990s I already had a pre-cancerous condition that led to a protocol of medication and testing every 18 months. I'm happy to say the condition has not progressed in 20 years. If I hadn't known this, I would not have been able to take the pro-active steps. With the information you collect from death certificates you can create a medical pedigree.
The chart above is hand drawn (I created it in 2008), but there are tools to assist you in doing this at the Department of Health and Human Services. The Family Health Portrait tool allows you to take the information you’ve collected and create both a chart and list of health information. The information you input is not saved on the site, but stored on your computer, so if you go back to update the information, you reload it from your computer. The tool goes back to your grandparents, but that is the basic information you doctor wants to know.
So this Thanksgiving, share your research with your family and encourage them to share whatever information they have about their ancestors’ health. You never know, you may save a life. (And remind them to get their Flu Shot and COVID Booster). An excellent resource is Unlocking Your Genetic History by Dr. Thomas Shawker. Below are some links to help you get started.
Happy Hunting!