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Genealogy and Health History

I usually save this topic for November as Thanksgiving Day is Family Health History Day, but with all of the news today about COVID-19 and Coronavirus I thought I'd make another statement of the importance of this topic. Your health history may not help with this virus, but it's important to know your risks.

For years, health professionals have known that many common health problems such as diabetes, heart disease and some cancers run in families. The more you know about your family health history, the more you can do to reduce your risk of serious illness. As genealogists and family historians we routinely collect information about our ancestors and the causes of their deaths. Putting the information together in a documented health history cannot only assist your physician, but may save your life. Passing this information to your children or other family members may also provide them with life saving information.

When I first moved to Florida, I had to find new doctors, and at the same time, my children were moving out on their own and also needed primary care physicians.  I'm sure you know all the questions that appear on the paperwork whenever you meet with a new physician. (I spent last night filling out paperwork for a new doctor I'm seeing today...probably why this topic is front and center for me.😀) I was also getting calls from my daughters with questions about the cause of death for their grandparents, so I decided to put together a medical pedigree for the family. A couple of things about the medical pedigree that make it different from the genealogical pedigree. First notice that there are no names. The focus person is where the arrow appears. Males are squares and females are circles and a diagonal line indicates the person is dead. The legend in the lower right indicates the diseases. Numbers next to the boxes indicate age at death or at onset of a particular disease. I did this chart manually drawing the boxes, but you can also use the CDC's My Family Health Portrait. You can also find additional resources here.

A few years later I tested with 23andMe. That was before they withdrew some of their testing (much of which has been added back in) and so I have a great deal of health information from them. One of my interests when I started genealogy was in the health aspects as I am a carrier for Cystic Fibrosis. I knew this before I tested with 23andMe, but their test also confirmed my carrier status. I only knew about this because

my four year old niece died of CF in the 1970s. Since this is a recessive gene, it meant that both my older sister and brother-in-law were carriers. At the time there wasn't a carrier test, but when it was developed in the 1990s both my younger sister and I were tested. I was a carrier, but my younger sister was not. With all of our current work with DNA that makes perfect sense today as we know that recombination is random. With CF and other recessive genes, if both parents carry the gene, there is a one in four chance with each pregnancy that the child will have the disease. As a single carrier (my husband is not) our children would not have the disease but there is a 50% chance that they would be carriers. As it turns out, two carry the gene and one does not.

Ethnicity can play a part in health as well. The Irish have one of the highest incidence of CF per capita in the world (also Celiac disease). It is also known that other ethnicities are prone to other diseases such as Sickle Cell Anemia for African Americans and Tay Sachs for Jewish populations. Notice the reference to ethnicity on the top of the medical pedigree.

For me, this is a fascinating topic. Neither of my parents were tested so we don't know which side of the family passed it on. In my research I look for families that had children who died young and I have two possibilities. My paternal great grandfather had two sisters, both of whom died young; one from Phthisis pulmonalis; the other from Bronchitis. Both involve some aspects of lung disease. On my maternal side my great grandfather's brother had 9 children, 5 of whom died before the age of 5, all with Bronchitis listed as one of the causes of death.

With the advent of DNA testing and some of the tools I now have a new project. I am trying to find test candidates to see if I can determine where the CF gene originated in my family. Why? So I can provide that information to family members who might not be aware of it. When my older sister married she had no idea that she was carrying the CF gene, and it didn't present until her second child was diagnosed with the disease. When one of my CF carrier daughters married, her husband tested and does not carry the gene...that means that there is a 50% chance should they have children, that the CF gene could be passed down to a child (but not the disease).

23andMe's report identified the exact location of the CF gene at marker 3,000,001 on Chromosome 7. Working with DNA Painter I can look for individuals who overlap a known carrier at that location.

So far, I have a maternal 1st cousin who overlaps in that area. I need to find more candidates to test, or get some additional people who have tested at Ancestry to move their results to GEDMatch, FamilyTreeDNA or MyHeritage, all of which have a chromosome browser. I've been fairly successful in using shared matches at Ancestry to put individuals into families, but this problem will require the use of a chromosome browser.

If I've made any serious errors with my theory, I'd be happy to hear from you. Just leave a comment. By the way, I am having problems with my log in to the comments section (Wix is working on it for me) so if you see a response from LWRGenealogy, that's me.

Happy Hunting!

Beginning on March 23rd, I'll be teaching a course for Family Tree University on

Finding your Irish Ancestors. Registration opens soon.

It is March and St. Patrick's Day is just around the corner. Check out my Promotions page as there are lots of special offers that expire on March 17th or 18th.

March is also the month that RootsIreland has their annual sale.

MyHeritage is offering free access to Irish records from March 5 - 18th. .

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2 commenti

Cormac, thanks for your comment. This is clearly a personal decision. Early on I discovered I had stomach cancer on both sides of my family back 3 generations. Then in the late 90's my maternal aunt died of stomach cancer. I had been treated for acid reflux, but after her death, and a discussion with my doctor, I had an endoscopy done and discovered I had Barrett's Esophagus, a pre-cancer condition. I have been treated, and go every two years for an endoscopy and the disease hasn't progressed. Had I not known the family history I probably wouldn't have been treated. I'm a firm believer in the importance of knowing health history. Early intervention is important.

Mi piace

10 mar 2020

I appreciate the time and effort that you put into this post, but I couldn't agree on the importance of tracking the causes of death or a particular disease. For me, the reason why a certain ancestor is just an entry in my genealogical records. Nothing more. I have heard stories about my great-grandmother yelling at her eldest daughter that her daughters weren't visiting her. It is a sad story but there is nothing that I can do about it. As for any disease, what are you going to do with the knowledge if you're a carrier? If both my great-grandmother and her daughter (my grandmother) both seemed to have Alzheimer's what should have my father done? I just don't…

Mi piace
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