Visit with the Geneticist
he·mo·phil·i·a
Any of several hereditary blood-coagulation disorders in which the blood fails to clot normally because of a deficiency or abnormality of one of the clotting factors. Hemophilia, a recessive trait associated with the X-chromosome, is manifested almost exclusively in males.
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Recently, we went to a scheduled doctors appointment with our doctor at the nearby hospital and Chelsea asked if she should be tested to see if she is a carrier of hemophilia. Along with a couple of other questions he became somewhat agitated and without answering any of them, he told us that Chelsea didn’t need to be tested because we’re having a girl. When we got home we told Carolyn who was a bit surprised and upset with what we told her.
About a week ago Chelsea’s cousin Caryn had to switch doctors immediately because her doctor said the same thing, until he realized the risk he was not qualified to handle with Caryn being a potential carrier of hemophilia. When they finally got that arranged, she met her new doctor when she went in and had her baby this past weekend.
We want to avoid that first of all and any complications that could arise. Both Carolyn and her sister hemorrhaged during their pregnancy and Chelsea could as well. If the doctor is unaware that they might need factor 9 for hemophilia, the results could be fatal. Chelsea’s aunt Deanna had her DNA tested to find the exact place where the switch is that causes the hemophilia: c.316G>A. Which means, where you should have Guanine you have Adenine.
The doctor that delivered Caryn’s baby was told about us and said she would be happy to have Chelsea come to her. She only does high risk pregnancies and along with our geneticist, says that testing is not an option. There is too much risk involved not to be tested.
Hemophilia made perfect sense to me because it is passed on the same way fragile X is passed on; through the x chromosome. As Rachael pointed out in an email to us recently, there is a lot of confusion with genetic disorders. “In one recent survey, 47 percent of pediatricians didn’t know that females could be affected by fragile-X syndrome. Only 28 percent knew that carriers can have adult health problems.” More than likely, your doctor may not know how to best help you.
I have to say, the doctors that have helped us at the U have been very impressive. Our geneticist sat us down and drew up a diagram of our genetic family tree, at least showing how Fragile X affects my family and Hemophilia in Chelsea’s family. We’re in the middle. It is quite amazing that because I am male, my family line will not be affected. Because Chelsea is a girl she can only be a carrier of Hemophilia and cannot actually have Hemophilia. We hope that she is not. The test we did today will determine that, but we will not know for about a month.
So, we are happy to be switching doctors and we will just have to drive a bit further now. We’ll post the results when we get them!