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Sylvie - When the branches of your family tree connect with your inherited bleeding disorder

by Sylvie Marmen, Sainte-Thérèse, Québec

My granddaughter Frédérique was born on March 27, 2010. What a joy! Her smile has lit up my life ever since. However, events shortly after her birth puzzled her parents and had the staff at Sainte-Justine Hospital in Montreal scratching their heads. Frédérique was born with a number of bruises and when her umbilical cord was cut, it took time for her to catch her breath. It was perplexing, and everyone wanted to understand what was happening.

Blood tests were run and other investigations conducted. Based on these, Dr. Georges-Étienne Rivard surmised that Frédérique might be suffering from Glanzmann thrombasthenia, a rare bleeding disorder. This condition is caused by a deficiency of a platelet protein needed for the platelets to clump together. This was the first time we had heard of this disorder. Dr. Rivard met with Frédérique’s parents, taking time to explain what the disease is all about, its severity and the measures to allow Frédérique to lead her life and avoid or cope with the difficulties stemming from this bleeding disorder.

In subsequent conversations, Dr. Rivard explained that Glanzmann Thrombasthenia is genetically transmitted and that both parents must be carriers of the defective gene for the disease to be inherited. The scientific literature suggests that this situation, where both parents are carriers, often arises when they have ancestors who were blood relatives. He therefore asked Frédérique’s parents if they were aware of any blood relatives among their ancestors. Of course, they knew nothing of the sort and had no way of finding out as their family trees were incomplete or inaccessible. Dr. Rivard said that he would have really liked an answer to this question.

As the grandmother, I said to myself that perhaps I might try to find out a little more about this. I contacted the Société d’histoire et de généalogie des Pays-d’en-Haut in Saint-Sauveur and met with Carmelle Huppé. Carmelle explained the main tools I could use to conduct real genealogical research, told me how to register research results and insisted on the importance of relying only on marriage and birth certificates, trusting only information confirmed by official documents.

She also showed me how to construct a family tree in the form of a fan chart, making it easy to rapidly consult information collected about entire families.

I set to work, devoting a great many hours to the task. I learned much and made discoveries about the two families and the history of Quebec. I also had to struggle with records written by hand, some carefully penned and others scribbled. I also understood that the records were most often written by priests, who recorded names as they were pronounced by people at that time, which meant the same names were often not spelled the same way.

At last, I started to get results. Frédérique’s parents did in fact have a common ancestor, a man who had had two consecutive marriages with children from both spouses. In addition, many of the children from these marriages had died at a young age. My daughter and her husband were both descendants of one of these two marriages.

In conducting this genealogical research, I was working with the idea that I had to get results as quickly as possible so I could give them to Dr. Rivard. I stepped up the pace of the work and finally ended my marathon in April 2011.

While I was frantically trying to complete my research, Dr. Rivard, in the meantime, was testing the blood of the two parents. The results were surprising, to say the least. Both parents were indeed carriers of a defective gene that can cause Glanzmann Thrombasthenia, but the genes derived from different mutations.

There were two possible explanations: the genes may have come from a common ancestor but developed in different ways; or they could be mutated genes that did not originally derive from a common ancestor. In other words, in Frédérique’s case it was not possible to confirm any connection between her suffering from Glanzmann Thrombasthenia and the blood relations among her ancestors substantiated by genealogical research. Despite all the work, there are a number of things I am happy about. The family trees of Frédérique’s parents are complete, or almost, right back to the arrival of the first French colonists in Quebec, and this information is now available to Dr. Rivard’s team. I have a much better understanding of the peopling of Quebec and North America and a much better appreciation of the work that historians and genealogical researchers do. And to top it off, the family trees I developed will be there for Laurence as well, my second grandchild, born in October.

- March 2012