CHERUBS Medical Expert Series: CDH & Genetics (Nov 4-11, 2013)

[JuliaWynnMS]

Brooke,

Thank you for your patience with the study. I know that so many people have participated in the study buy they have not yet received test results. We are working very hard on all of the samples to try to identify the genetic cause of the CDH. We have learned that the genetic causes of CDH are very complex and not always easy to identify. We know of over 100 different genetic causes!

We contact all families if and when we identify a genetic cause but we are not able to contact families each time we complete a genetic test on a sample. I encourage everyone to contact me by email jw2500@columbia.edu or by phone 212 305 6987 to ask specific questions about their family. I can tell you what analyses have been done and what this means about the risk that the CDH is genetic in the family.

I sent you a private email in response to the connective tissue disorder question. There are many different types of connective tissue disorders and only a few have been associated with CDH.

Best,
Julia

[BRoper]

I have one more question I forgot to include. I read where you think it can be caused by a connective tissue disorder. I was diagnosed with a connective tissue disorder after I gave birth to my oldest daughter. If it is a connective tissue disorder are you able to determine that through the study and does that mean it was inherited from me?

Thanks again,
Brooke

[AmandaPlakholm]

Talked to Julia today and just can't believe how amazing she is! She took over half a hour of her time today to talk to me. Thanks Julia and thanks to Cherubs for giving me this opportunity!