RET Gene testing

Hirschsprung's Disease
#1

Did any of y’all have any genetic testing done. They tested max since he and Micahel have HD. The test came back showing no signs of mutation, but then the Dr told me that the test only picks up mutations 50% of the time and it was the best test they had, plus the RET gene might not be the only gene that can mutate and casue HD.

She did say that since I have 2 child w/ HD that there is most likely something I have w/ my genes that causes me to pass a mutation on to my children eventhough it does not effect me ( I do not have HD) and that every child I have will have 50% chance of having HD.

She said there was no reason to have Michael tested at this time since they found nothing w/ Max, but if I was to have another child or when they have children that there might be a new test and we should be tested.

#2

You should go to the John’s Hopkins HD study website. It is really informative.

http://www.hopkinsmedicine.org/geneticmedicine/CR/Hirschsprung/HomeHirschsprung.html

It talks about all the different genes that can cause HD and why it is such a difficult disease to study. It even lists probabilities of your child passing HD on to their kids or your chances for having another HD baby. I really suggest you check it out. If this link doesn’t work you can go to wikipedia- I found it at the bottom of the HD page. My family is going to participate in the study- all you have to do is send in some blood samples.

Jo

#3

To play devils advocate here…It might be that they did not really know what they were looking for? John’s Hopkins in studying the RET gene and doing a research study for HD families. Unfortunately they don’t tell you your specific results when you participate. If I was gonna do gene testing I would make sure my lab sent it to Hopkins since they are actively researching it. Maybe you can still ask them to also send it over to Hopkins?

Janel