Monday, 5 January 2015

Medical History - Knowing your Genes

Here was I these past years, working on my family tree, and I asked other family members for their family info. I'm sure everyone went.. Phew! Dianne is doing it so I don't have to! No one at that time was that interested that they would ask me questions about it. Until something happened! I am writing this with permission from my cousin and her family, and with their encouragement to tell people the importance of knowing your family medical history.

My cousin's son is athletic. At the age of 25 he was coming home from a 10K run and as he reached his home driveway he passed out. He was rushed to the hospital and spent a week in intensive care and another week in a room while they tried to figure out what was wrong.  He went through a battery of tests until they found it, a disease that is difficult to diagnose -

Hypertrophic Cardiomyopathy. 

HCM is an inherited heart disease.  The whole family was promptly tested and although her daughter was fine, her other son was found to have the same disease, to an even greater degree. There is no cure, and both boys are on experimental drugs and curtailed athletic activity. In some cases a person may have HCM and never know it, some develop severe symptoms of heart failure, and still others die suddenly with no previous symptoms. HCM also is what can cause the hearts of newborn babies to swell and eventually give out within the first months or years of life.

More than we realize, it is common for young athletes to die suddenly of an arrhythmia caused by Hypertrophic Cardiomyopathy. My cousin's son was lucky! Could his attack have been prevented all together if they had known and paid attention to our family medical history? My cousin and I talked about it.  Although the disease can affect women as well as men, I knew that the men in our family did not live long lives¹. My father even joked about it at age 90, saying he had outlived them all, as he died of old age at 92. So I went back through the family line to check causes of death. (Hypertrophic Cardiomyopathy was first recognized in 1958, so before that the cause of death was put down to sudden heart failure.) 

¹There were only 4 females born until my generation, which produced more females than males.
The clues were in front of us all along.
Also, when reading an ancestor's death certificate, check the underlying illness.  A person may have been in the hospital for a certain illness, then contracted phneumonia and died.  The doctor will then write phneumonia as the cause of death, although the underlying illness, which could be hereditary, would have killed him soon.

So I really want to stress the importance of knowing what, if any, hereditary and genetic diseases run in your family. 

Do you know what is in your family genes?

Related Links:

Report from McGill University - Dangers in DNA


  1. This is very important information and I am very grateful that you published this to share with the family. I'm from the Seale side, and suffer from HCM. Because the cardiologist who specialises in genetics could not establish a genetic link, he could not verify the diagnosis. He prescribed beta blockers to manage the symptoms, and so life goes on. However my 14 year old, a highly athletic and competitive lacrosse and hockey player, amongst other sports, has noted chest pain, shortness of breath and a noticeable heart beat to me on several occasions, similar to my own symptoms as a young person. Because of your research he is now re-scheduled for a visit with the pediatric cardiologist. Hopefully we can ascertain if this is indeed the same problem and manage it going forward. Hopefully to save a life.

    1. So sorry to hear this. If you want you can email me at above address and I can give you more specifics.


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