CEH Attending Nursing School

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Nursing school interview: Tell us about a time in your life when you were faced with difficulty and overcame it.

Clyde: Yeah there was this time when we played Alabama and we hadn’t beaten them in 8 years and I scored 4 touchdowns…

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A few years ago my (then) 8 year old was having surgery. To say she was a nervous wreck was an understatement. The only people worse off (internally) may have been my wife and I'. When we were called from the waiting room to the prep room my daughter was crying and really scared. The nurse that met us was very kind to my daughter and helped calm her down. I'm sure she could also sense the tension in me and (especially) my wife, so we just made small talk while waiting for the OR nurses to come take my daughter. We were just talking about kids and the general expenses of parenthood. At some point in the conversation the nurse mentioned she had a daughter in private school and a son that had gone to Catholic High (BR), so she knew the cost of tuition and had to keep on working. Nothing really stood out about the conversation. It was just pleasant small talk. After she left I was looking at some of the papers they gave us and realized the nurse's last name was "Helaire". Then it dawned on me. Her son who went to Catholic High was Clyde who, by that time, was in the NFL. She could have at any point in the conversation about he son mentioned that he was an NFL player. But she never did. She was just doing the same job she had always done regardless that her son was a millionaire.

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Damn, pretty wild that his sister has Muscular Dystrophy and he doesn’t.

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A WOMAN HAS A CHILD WITH DUCHENNE. HOW LIKELY IS IT THAT SHE IS A CARRIER?

If a female has a child with Duchenne or Becker, and she has other affected male family members (such as an affected brother or nephew), it is extremely likely that she is a carrier.

If a female has a child with Duchenne or Becker, and there are no other affected family members, there is a 70% (? or 2 in 3) chance that she is a carrier. Approximately 30% (? or 1 in 3) of children born with Duchenne have a genetic change that started new in them and was not inherited from their mother. This is called a “spontaneous mutation” or a “de novo” mutation. The mother of a child with a spontaneous mutation is not a carrier.

The possibility for new mutations is one of the reasons why 1/3 or more of individuals with Duchenne will have no family history. Another possibility is that some families have several generations with mostly or all females (that is, they have no boys to express the disease). These families may not know that there are several generations of carriers.

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a female may inherit the DMD mutation from her mother and then have a spontaneous mutation in the dystrophin gene on the other X chromosome; this would give her two X chromosomes with the dystrophin mutation and cause her to have Duchenne muscular dystrophy.

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CEH may have dodged a bullet and his sister may have hit the worst of lotteries.

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