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

[Courtney Deuro]

Dear Julia,
Thank you for answer these questions! How does an older survivor get involved in these studies? I'm 23 and want to help learn more. The genetic aspect fascinates me because I'm still debating on having a child of my own. I've been told that my amniocentesis was "spot on" for no abnormalities. Has amniocentesis changed in anyway in the past 23 years? Are there more genes that get look at? (Ex: 23 years ago they looked at 300 gens but now they look at 500.)

Do you know any new information about the link to diaphragm and lung development (other than organs being in the way)? About ten years ago I was in Pittsburgh for consultation about a potential back surgery and while we were there we had the opportunity to talk to a surgeon with CDH experience. He talked about experiments they were doing with cats by inducing controlled CDH to see if its the diaphragm that stops forming first which causes the lung to stop, or vise versa. I haven't heard anything else since - I was turned down for the surgery and never visited that doctors again. I doubt my parents would remember his name.

Thank you again!
- Courtney

[JuliaWynnMS]

Courtney,

Thank you for your interest in our study. We enrolled individuals of all ages with a CDH.
The testing that can be done on an amniocentesis has changed quiet a bit in 23 years and I would encourage you to speak with a genetic counselor as you prepare to start a family of your own. I can refer you to someone close to you if you like.

There is still a lot of work on going with lung develop. Many of the studies are focused on trying to understand it so we then know how to treat it. Other studies are looking at trying to improve the lung development inutero while the fetus is growing. Presently there are no on going human studies of medications to improve lung growth in individuals with CDH but our hope is that through research studies and generous families we will better understand CDH and lung develop which will allow us to develop better treatment.

Please contact me by phone or email jw2500@columbia.edu or 212 305 6987 if you would like to discuss participating in the study.

Best,
Julia