Identifying Genes Which Cause CDH

[admin]

Identifying Genes Which Cause CDH
Massachusetts General Hospital
Boston, Massachussetts
Drs. Patricia Donahue and Lewis Holmes
Contact: Meaghan Russell, Clinical Coordinator, at (617) 726-0828

Currently seeking volunteer CDH families!

[HeidiCadwell]

Hey Dawn, I have a different name or contact for this research. Her name is Lina Mitova- email:
Lina.Mitova@childrens.harvard.edu
She did a very nice write up to people involved with the research that I got last January. I believe the research is a cooperative effort between both Children's and Mass General. Jay Wilson was involved way back.

[Tammy Pettus-Kopacz]

Have you heard about epigenome? Well they (scientist) are not saying that there is something that sits on the surface of genes called epigenome. This epigenome, depending on the environment triggers the genes to act a certain way. And the effect can take place up to three generations back. So for example, if a grandfather was fed well as a child, the grandchild has a better chance of being diabetic.

PBS (I believe NOVA) just did a whole study on this. I was pretty fascinating.

[Dawn Torrence Ireland]

Tammy, that sounds really interesting. Do you have a link for that? I'd love to read more on it.

[Tammy Pettus-Kopacz]

sure!

The episode is called "Ghost in Our Genes" here the link. You can check your local PBS channel for more air times.

http://www.pbs.org/wgbh/nova/genes/about.html

[Corin Nava]

Wow, that is really interesting! Really gets you thinking about your life choices.

[VictoriaJensen]

I just wanted to say that we are taking part in the UMass study. When Jack was born in August 2008 we sent them cord blood etc. The main contact person there (Meaghan Russull) is amazing. She's incredibly organized and we've called her a few times just for CDH related advice. I highly recommend this study to others.

Vicki
mom to Jack, LCDH/ECMO, 8/20/07

[karahess]

What all is involved in the study? How would someone like me, that doesn't have the cord blood, go about getting in on the study. Chuck and I have talked about this, but aren't sure where to start.

[Elaine Moats]

We took part in this study without the use of core blood. It was pretty easy. They sent us paper work to fill out, then all of us in the family sent in blood samples.

That was the fun part...not... :) our youngest daughter did not do well with the blood draw (she screamed the whole time ) We sent the blood back by Fed Ex and for quite a long time everytime Brittany saw the Fed Ex truck she would say that that was the truck that took our blood :)

[karahess]

That's funny! I have to laugh as my husband works for FedEx - not as a driver, though. We use nothing but FedEx for all shipments and deliveries if possible. Our FedEx man knows us all too well.

[AmyMiles]

Sounds interesting...is there much involvement after the blood drawing.

[Elaine Moats]

They let us know that they had received the blood samples and that was the last we heard from them except we do get a yearly newsletter.

[StephanieOlivarez]

I have been reading this thread and re-reading it.
Today I called Meaghan and is amazing.

She is going to send us information and a blood kit for when we have Shelby's blood drawn again and I hope it is no time soon.
I asked her if they were interested in other families having CDH babies and she was like YES.

Her number again-617-726-0828. If you are interested- DEFINETLY call her and she will explain everything.
They are doing AMAZING things and I am so happy this thread is here.
This can do so much for reasearch on CDH.

[StephanieOlivarez]

I can't spell when I get excited.
I meant to write---This can do so much research for CDH and the more families that are involved----the better.

[StephanieOlivarez]

I received a copy of CDH News from the CDH study Research Staff and it was wonderful.
They are all angels walking on this earth.
If anyone is interested-you should most definetly give Meaghan a call. It is so very much worth it!

[KateC]

You got what from who? How do we get this? Is this CHERUBS related?

[StephanieOlivarez]

I received the newsletter from the CDH Study Research Staff from The MassGeneral Hospital for Children and Children's Hospital Boston. It is called CDH News. They are conducting CDH research.
The newletter is wonderful.
CHERUBS web site is listed in the newsletter as a support group. VERY COOL!!!!!!CHERUBS is the first support group listed.
They are sending a blood draw kit for us to give our blood samples. We will wait until Shelby needs blood to be drawn and then send in ours and Shelby's.
I cannot tell you if they are taking parents blood of non-survivors.
That would be a question for Meaghan and she is amazing, as are the doctors involved in this research.
Her number is listed in this thread.
Hope this helped.

[KateC]

Do I call her to get this newsletter?

[StephanieOlivarez]

Yes- I would call Meaghan and tell her you are interested in the newsletter. She emailed it to me, so I would think she would be more than happy to do it for you.

[StephanieOlivarez]

DUH-
I don't know what I am thinking. If you want I can copy it for you Kate and send it in the mail.
I think there would be any harm in me sharing it with you.
Let me know either way.

[KateC]

Could you mail me one so I can see what it is about? Then if I want to get them, I'll call Meaghan. You are the best!!

[StephanieOlivarez]

Not a problem-I will get it copied and sent out ASAP.
I am sure Dawn gets one-I wonder if the research team would let us put it on CHERUBS??Then everyone that wanted to read it could. It just gives me such great hope that research is being done to help with this horrible birth defect. I pray for the research team everyday since I received this newsletter and wish them only the best on what wonderful things they are doing.

[KateC]

Thanks Steph! They are wonderful people to help! I wish them all the best in the research!!

[PennyCampsey]

You know what, i think this is the research we were going to participate in, but that was right after cole was born and he was sick and sick and sick..
Steph, have you done it
I was very intense, as it should be, but the family tree stumped me, my dad had 15 brothers and sisters !

[JodyJarecki]

My family is interested in taking part in the CDH study. I was just wondering who covers the cost of the testing?

[LynneB]

I am interested as well

[StephanieOlivarez]

I would call Meaghan if you are interested.
She is super nice and will answer any and all questions you may have.
Meaghan is coming to the conference to talk about the CDH Research.
I am excited to hear all about it.
I have started to fill out our paper work for the study--we have to wait for a time when Shelby has her blood drawn, then Shane and I will have ours drawn and we will send the viles to Meaghan.
They sent me the paperwork and sent the packaging for the blood draws and a pre-paid envelope to send them back.

I hope this has helped.

[PennyCampsey]

Meaghan is coming to our conference ???
YAY!
That is great, b/c I am very interested in getting restarted with participation, It was just flat out bad timing for us !
Now is much better!!!

[StephanieOlivarez]

Yep-Meaghan is coming to the CHERUBS conference!!!
I know she will give a great presentation and am looking forward to it myself.
Any questions you may have--I would write down and you will be able to ask her face to face.

[PennyCampsey]

That is so great she will be there, she seems so nice!
Steph, i just emailed a pic of cole you will appreciate ... to your cherubs email..

[StephanieOlivarez]

I am off to take Taylor to dance--but will look as soon as I get home.
I am excited to see the picture of COLE!!!!!

[PennyCampsey]

HAVE FUN !
DId you get to look at the pic yet ???
LOL
ATV ride in VA!

[Dawn Torrence Ireland]

FYI everyone, Meaghan Russell will be one of our guest speakers at our conference!!!! :)

[AmyMiles]

I checked with my hospital to see if they had any of Faith's blood stored, in case we wanted to do the study. But htey didn't :( Our nurse said that the babies can't have received blood product before their blood is drawn. They have to wait 3 days or something. So if they didn't take Faith's within the first 24 they would have no way to test it, because after that she had lots of other peoples blood running through her. Go blood donors!! Thank you to anyone who donates blood.

I look forward to hearing her talk at hte conference.

[Dawn Torrence Ireland]

I don't have any of Shane's blood either, so I can't participate in the study's either. So that makes works hard to recruite families that can. :)

[ChristinaTennyson]

Anybody know if this is the study looking at Polish ancestry? Nicole's having blood drawn in the next few weeks and I just left a message with this contact.

[StephanieOlivarez]

Chris-
I am not sure about the polish ancestry?
Did you leave message with Meaghan?
She is GREAT at calling back.
There is a lot of paper work to be filled out.
I hope you have made contact with Meaghan.
She was a HUGE help and answered So many questions for me when I called.

[PennyCampsey]

HEY .. i'll do this study, I JUST feel so bad b/c i had started everything with Meghan and then just abrubptly stopped b/c of cole being sick one illness right after another.; . now i feel is a more appropriate time, so maybe when she's at the conference i can apologize in person and get things DONE !
the detailed family history was what i had issues with, my dad had 17 brothers and sisters, so the social history isnt very accurate, HOWEVER i can be %100 accurate with scott, cole and myself .....

[ChristinaTennyson]

I talked with Meghan this morning. She's so nice! One of the tests for the study is one Nicole's neurologist would like done, anyway--DNA microarray. I'm a realtor, paperwork doesn't scare me! :)

After talking to Meaghan, I think the Polish ancestry study is a different one, or a subset of another study. An agent at Matt's office mentioned it to him when Nicole was in the NICU.

Penny, Cole's pic in your sig is adorable!

[LynneB]

I want to be a part of this study. please give me the info. email at blondebe@msn.com or call 864-627-8644. Lynne Brogdon. We are not of Polish decent only German, English and Scottish.

[PennyCampsey]

Thank you Christina :)

[StephanieOlivarez]

Lynne-you need to call Meaghan and she will get you all the paperwork and tell you how the study works.

Chris--Isn't Meaghan wonderful??????

Love the new avatar's of Cole and Baer.
LOVE the picture of Cole in your sig line Panny!!!!

[PennyCampsey]

thank you steph.. well all credit goes to CORIN ... she did it :0)

[LynneB]

Thanks Steph it's part of Jeff's Father's Day gifts

[StephanieOlivarez]

I bet Jeff LOVED his father's day gift. Baer's smile makes me smile!

Corin is good a gold isn't she!!!!!

[PennyCampsey]

YES Corin is !
She's gonna be in trouble down here, i'm gonna try to keep her (and all of you all) down south with me, dawn, and lynne !! !

[StephanieOlivarez]

So you are going to try and make us all Red Neck Women!?
I am ALL for it!

[Damon andSharonknott]

Pen - Your dad has 17 brothers and sisters - Oh my!!!
You must have huge family get togethers...

[PennyCampsey]

YEEEEEEEEHAAAAAAAAWWWWWWWWWWWWWWWWWW
well, half of them dont talk, when you get that many ... only one is deceased, one is not doing good, one has been dying for about 25 years now (god forgive me), it's a whole mess... too much to go into .. needless to say i only see about 8 of them

[Damon andSharonknott]

WOW.....

[LynneB]

We could keep Corin her daddy, pronouned deddie in SC, lives in Hilton Head, SC! If you all came down here, you would fall in love too. They don't call it God's country for nothing! Remember Penny and Dawn as my grand paw used to say, "Save your confederate money, the South's gonna rise again!"

[ChristinaTennyson]

Penny, I thought I had a lot of extended family. Yikes!

Lynne, Meaghan only took 2 days to call me back. Steph's right, she's wonderful. Kind of nice to talk to someone who immediately knows what you're talking about! (Kinda like around here, hmm?)

[LynneB]

Christina, I don't have a number to call her at.

[PennyCampsey]

Lynne you are a mes girl !!
GitRdone!

[LynneB]

Penny that's funny I don't care who you are! we are going to have more fun that a buzzard on a gut wagon!

[PennyCampsey]

HAAAAAAAAAAAA
speaking of ... I HIT one of those dang things the other day .... thought it tore my car up but it didnt they are HUGE

[LynneB]

I hit one with the ambulance going about 90 mph and it tore the whole side mirror off. I had to a report and everything! My partner said "Bet I know the last thing that went through his mind, his @$$." A little off color but still funny!

[PennyCampsey]

LOL!
You have me beat, i was only going about 60
they are just so stupid, like deer, they literally come right towards ya

[PennyCampsey]

oh last year i hit a turkey
i looked in my rear view mirror and feathers everywhere !!!

[LynneB]

Hit a few deer too. The good thing about hitting deer with the ambulance is that you can put them on the back on the stretcher and take them in to the butcher! We had a couple of medics who put one in the back of the truck not quite dead and it kicked and did 2000$ of damage to the truck. and two that hit one and decided to put it out of its misery so they beat it to death on the side of the road with a hammer in the county ambulance. YOU MIGHT BE A REDNECK IF ... HERE'S YOUR SIGN.....

[PennyCampsey]

OH yes, they have the "SIGN"
LOL

[ChristinaTennyson]

Sorry, Lynne, it's kind of hidden in this thread. Meaghan's number is (617) 726-0828. She's the coordinator, a phD student.

[LynneB]

Thanks Chrissy!

[Shanell Browand]

Sam and I are really interested in doing some type of chromosomal study, but the farthest that we can go is Seattle. Do you have any references. I want to do genetic counseling, but if I can be part of a study like that for free, i want to do it! thanks

shanell

[Dawn Torrence Ireland]

Shanell, give Meaghan a call - she'll mail the stuff and it's free. :)

BTW, Happy Birthday, Shanell!!!!! :D

[ShellyMoore]

The last posting on this was 2008 - Does any one know if the study is still open? I vaugely remember before Jayden was born they were talking about some of his cord blood would be saved for some research but I don't know if it was this one.

As for the article that is VERY interesting as I have a theory that the reason I & my siblings & our children & grandchildren have had all the weird anomalies we do (CDH is only 1 of a long list list of weird & wacky) is due to my dad's exposure to Agent Orange (dioxin) & my mom's exposure to dioxin in the cotton fields in Arkansas growing up. With each generation more oddities keep showing up. If I'm right the havok it played with our genes could go on for such a long time. If this article's theory proves out true it could be even longer. Oh my!

[Chris and TracyMeats]

Shelly, these studies/research is ongoing. I had the chance to hear both the reseearchers (I have them listed below) at last year's CHERUBS conference in July. Very interesting what they presented and the work they are doing trying to identify if genes play a role in CDH. Both researchers will mail you the info. and you mail back all the samples and paperwork and it is free to participate. I didn't know you had another grandbaby with CDH. Has your family ever done any genetic counseling? I would love to have our family done, but just haven't done it.

Both Meaghan and Daryl are super nice individuals, here is there contact info.:

Identifying Genes Which Cause CDH
Massachusetts General Hospital
Boston, Massachussetts
Drs. Patricia Donahoe and Lewis Holmes
Contact: Meaghan Russell, Clinical Coordinator, at (617) 726-0828
mrussell@partners.org

Identifying Genes Which Cause CDH
Baylor College of Medicine
Daryl Scott, M.D., Ph.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, MS BCM225
Houston, TX, 77030, U.S.A
Phone: 713-203-7242
E-mail: dscott@bcm.edu

[ShellyMoore]

We have had some genetic testing but only for the Stickler syndrome & Alicia's Gitelman's syndrome but not the CDH as of yet. Alicia & I would be interested in it.

I'm gonna check in with Alicia's doctors & see if either of these are studies her & Jayden's samples became part of. We would be happy to see what can be done to spare the sadness we've endured.