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#19862 From: Sam April <sam_prl@...>
Date: Sun Jul 1, 2007 1:19 pm
Subject: New tests for MD
sam_prl
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New genetic test developed at Emory advances detection and diagnosis of muscular dystrophy
Wednesday, 27 June 2007

By Emory University

A new genetic test targeting the most common types of muscular dystrophy--those caused by mutations in the dystrophin gene--is far quicker with greater accuracy and sensitivity than existing tests. It can be used to confirm clinical diagnoses, to test female family members who may be carriers, and to perform prenatal testing.

The test was developed by Michael Zwick, PhD, and Madhuri Hegde, PhD, assistant professors in the Department of Human Genetics and the Emory Genetics Laboratory in the Emory University School of Medicine.

Muscular dystrophy includes more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms are seen in infancy or childhood, while others may not appear until middle age or later.Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy and primarily affects boys. It is caused by absence of dystrophin, an important muscle protein involved in maintaining the strength of muscle fibers.

According to the National Institute of Neurodegenerative Diseases and Stroke (NINDS), DMD onset is between 3 and 5 years, with rapid progression. Most boys are unable to walk by age 12 and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Becker muscular dystrophy, which is similar to Duchenne but less severe, results from faulty or not enough dystrophin.

As currently implemented the new test, called Em Dystrophin, detects 99 percent of mutations in the dystrophin gene including deletions, duplications and point mutations.

The Em Dystrophin test uses a new kind of microarray technology that contains the entire sequence of the dystrophin gene, the largest known gene in humans, on a chip the size of a microscope slide. The test initially detects deletions and duplications, then microarray-based resequencing is used to rapidly identify subtle genetic variations that may cause muscular dystrophy.

The Em Dystrophin test confirms clinical diagnosis of Duchenne and Becker muscular dystrophy in a male and characterizes the type and size of the mutation. Women with a family history of Duchenne or Becker who are at risk to be carriers can be tested, then, if found to be carriers, can have prenatal testing.

Previously, access to prenatal testing was limited for some women when the affected male relative was not available for testing. The Em Dystrophin test greatly improves access to prenatal and carrier testing for women without the need to test a male relative, in a rapid timeframe, according to Vanessa Rangel Miller, MS. In addition to improved testing, the Emory Genetics Laboratory, Parent Project Muscular Dystrophy, leading researchers and clinicians are working together to develop a database for mutations and clinical data.

Our new genetic test, along with new therapies currently in clinical trials, is a very positive development for muscular dystrophy patients and their families, says Dr. Hegde.

In the last five years DMD research has accelerated, resulting in more knowledge about the role of the dystrophin gene and an increased understanding about what happens to a muscle cell lacking the dystrophin protein. Researchers around the world are investigating a number of different treatment strategies, all with the goal of slowing or stopping muscle degeneration. Several clinical trials are underway and many others are in development, including testing of an oral medication intended to circumvent mutations in the dystrophin gene and increase normal gene expression.

According to Dr. Hegde, about 13 percent of mutations in the dystrophin gene are nonsense mutations--point mutations in a sequence of DNA that can result in mistakes in gene expression and nonfunctional proteins. New data published online in the current edition of the journal Nature show that PTC124, an investigational new drug designed to bypass dystrophin nonsense mutations and restore a functional protein, was effective in a preclinical (animal) model of Duchenne muscular dystrophy (DMD). (www.clinicaltrials.gov).


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#19861 From: "bdevergillo" <bdevergillo@...>
Date: Fri Jun 29, 2007 2:15 pm
Subject: Re: Ghostwise
bdevergillo
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Okay,  thanks so much.  Sometimes trying to pick out the best product
is just so overwhelming.

Beverly


--- In MD-List@yahoogroups.com, JoyceGlass@... wrote:
>
> Beverly, Hillrom will help you with billing your  insurance.
>
>
>
> ************************************** See what's free at
http://www.aol.com.
>

#19860 From: JoyceGlass@...
Date: Fri Jun 29, 2007 9:51 am
Subject: Re: Re: Ghostwise
JoyceGlass@...
Send Email Send Email
 
Beverly, Hillrom will help you with billing your insurance.




See what's free at AOL.com.

#19859 From: JoyceGlass@...
Date: Fri Jun 29, 2007 9:50 am
Subject: Re: Re: Ghostwise
JoyceGlass@...
Send Email Send Email
 
Beverly, my son has a SilkAir mattress overlay.  You might want to contact Hillrom Customer Service and ask them to have a representative go to your house to discuss your options.  That is what we did.
 
The SilkAir Mattress overlay ( or Silkair low airloss therapy) is an air mattress that goes over the mattress on the hospital bed.  It has a motor that you turn on that inflates the mattress with air.  The air pressure can be regulated.  The overlay mattress can be folded up and taken with you when you travel in the van.  We have done it many times.
 
Hillrom is also very good about coming out to fix anything.  We have only had to contact them once in ten years.
 
Another nice thing about Hillrom is that if you are traveling out of state you can rent a mattress from them and they will deliver it to your hotel and set it up for you and pick it up when you are leaving.  We have also done that many times.
 
Here is Hillrom's customer service phone number: 1-800-638-2546




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#19858 From: "bdevergillo" <bdevergillo@...>
Date: Fri Jun 29, 2007 1:29 pm
Subject: Re: Ghostwise
bdevergillo
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Joyce
Adele,

We need to purchase a new mattress for our son and in looking at the
Hillrom site, there are many different mattresses.  What specific
mattress (or item #) would you recommend on that site?

Thanks for your help.

Beverly


--- In MD-List@yahoogroups.com, "Adele" <jasona65@...> wrote:
>
> There are plenty of good mattress out there.  It's more a matter of
what
> comfortable for your son.  Jason uses an continious low air loss
mattress
> from Hillrom.
>
>
>
> Adele
>
>
>
>   _____
>
> From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On
Behalf Of
> SKumbera@...
> Sent: Thursday, June 28, 2007 10:02 AM
> To: MD-List@yahoogroups.com
> Subject: Re: [MD-List] Ghostwise
>
>
>
> do you know if there is a better mattress than roho?
>
>
>
>
>
>   _____
>
> See what's free at AOL.com <http://www.aol.com?
ncid=AOLAOF00020000000503> .
>

#19857 From: "Adele" <jasona65@...>
Date: Thu Jun 28, 2007 3:34 pm
Subject: RE: Ghostwise
navymom2josh
Online Now Online Now
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There are plenty of good mattress out there.  It’s more a matter of what comfortable for your son.  Jason uses an continious low air loss mattress from Hillrom.

 

Adele

 


From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of SKumbera@...
Sent: Thursday, June 28, 2007 10:02 AM
To: MD-List@yahoogroups.com
Subject: Re: [MD-List] Ghostwise

 

do you know if there is a better mattress than roho?




See what's free at AOL.com.


#19856 From: "Melinda" <mseiuli05@...>
Date: Thu Jun 28, 2007 3:14 pm
Subject: Re: please help
tikioohaha
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My son was diagnosed when he was 3 months old and we did a genetic
study. There can be different flaws in the x chromosome that makes
some treatment options not available. When the ptc drug first came
out i brought it to my neurologists attention, and because my son
has an exon deletion he is not a candidate for the treatment. The
exon is what translates proteins to make new muscle, but with a
deletion, his body doesnt even know to make new muscle.


--- In MD-List@yahoogroups.com, "Mastercraft Technical Services"
<elainemts@...> wrote:
>
> charles,
>
> They have done the CVS test and have told me that I have passed
some of the good X and some of the Bad x asnd that this is very
rare, I have to wait for another 3 week to find out about
amniocentisus nothing has been clarified and i am very worried
>   ----- Original Message -----
>   From: Charles D. Rhodes
>   To: MD-List@yahoogroups.com
>   Sent: Sunday, June 24, 2007 9:23 PM
>   Subject: Re: [MD-List] please help
>
>
>
>   Hi,
>
>   DMD is caused by a flaw in the X chromosome of our DNA.  A
female has 2 X chromosomes and a male has an X and a Y chromosome.
You will pass on one of your X chromosomes to your future children.
Only one of your X chromosomes is effected with DMD so, if you have
a boy, he will have a 50 percent chance of having DMD.  Also, if you
have a girl, she will have a 50 percent chance of being a carrier of
DMD.
>
>   I hope this clarifies this for you.
>
>   Charles
>     ----- Original Message -----
>     From: query121
>     To: MD-List@yahoogroups.com
>     Sent: Saturday, June 23, 2007 7:18 AM
>     Subject: [MD-List] please help
>
>
>     I have been told I am a carrier my brother had duchene
muscular
>     distrophy and I need to know if my baby will definitely have
this they
>     have done the tests and told me its a boy and i have the gene
what do I
>     do now
>

#19855 From: JoyceGlass@...
Date: Thu Jun 28, 2007 10:18 am
Subject: Re: talk
JoyceGlass@...
Send Email Send Email
 
My son uses the SilkAir mattress overlay from Hillrom.  It is very comfortable and your medical insurance should pay for it.  www.Hillrom.com
 




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#19854 From: SKumbera@...
Date: Thu Jun 28, 2007 10:07 am
Subject: talk
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




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#19853 From: SKumbera@...
Date: Thu Jun 28, 2007 10:02 am
Subject: Re: please help
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




See what's free at AOL.com.

#19852 From: SKumbera@...
Date: Thu Jun 28, 2007 10:03 am
Subject: Re: Re: PPMD Conference
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




See what's free at AOL.com.

#19851 From: SKumbera@...
Date: Thu Jun 28, 2007 10:03 am
Subject: Re: Re:meiosis (was Re: please help)
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




See what's free at AOL.com.

#19850 From: SKumbera@...
Date: Thu Jun 28, 2007 10:01 am
Subject: Re: Re: PPMD Conference
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




See what's free at AOL.com.

#19849 From: SKumbera@...
Date: Thu Jun 28, 2007 10:02 am
Subject: Re: please help
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




See what's free at AOL.com.

#19848 From: SKumbera@...
Date: Thu Jun 28, 2007 10:01 am
Subject: Re: Ghostwise
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




See what's free at AOL.com.

#19847 From: SKumbera@...
Date: Thu Jun 28, 2007 9:59 am
Subject: Re: Ghostwise
SKumbera@...
Send Email Send Email
 
do you know if there is a better mattress than roho?




See what's free at AOL.com.

#19846 From: "Adele" <jasona65@...>
Date: Thu Jun 28, 2007 3:05 am
Subject: RE: Re: PPMD Conference
navymom2josh
Online Now Online Now
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Dee, I’m sorry you are missing this one also.  One of these years you’ll get to come.  This is going to be my first medical conference.  Jason is a speaker at this one.  He’s on a panel of DMD “experts”.

 

Adele

 


From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of newspirit41
Sent: Wednesday, June 27, 2007 7:28 PM
To: MD-List@yahoogroups.com
Subject: [MD-List] Re: PPMD Conference

 

I wish I could go to this...but I'm hosting my HS homecoming reunion at
that same time, and since it is in Philly and we have family in that
area, we probably would stay with them. Another PPMD i'm missing. If it
was only one week earlier or 1 week later! lol!

--- In MD-List@yahoogroups.com, "Joanne" <Joanne.Wechsler@...> wrote:
>
> Hi,
> Is anyone looking to share a room at PPMD Conference with another mom?
> Joanne
>


#19845 From: "Lanae Squires" <lmssquires@...>
Date: Thu Jun 28, 2007 12:38 am
Subject: Re:meiosis (was Re: please help)
freckeledscr...
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Hi, I just got the Quest magazine and there is an article on this very topic. If you don't get the Quest magazine you can access it on the main MD web site at www.MDAUSA.org


 




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#19844 From: "newspirit41" <newspirit41@...>
Date: Wed Jun 27, 2007 11:27 pm
Subject: Re: PPMD Conference
newspirit41
Offline Offline
Send Email Send Email
 
I wish I could go to this...but I'm hosting my HS homecoming reunion at
that same time, and since it is in Philly and we have family in that
area, we probably would stay with them. Another PPMD i'm missing. If it
was only one week earlier or 1 week later! lol!

--- In MD-List@yahoogroups.com, "Joanne" <Joanne.Wechsler@...> wrote:
>
> Hi,
> Is anyone looking to share a room at PPMD Conference with another mom?
> Joanne
>

#19843 From: "J.P." <redmaple01ca@...>
Date: Wed Jun 27, 2007 11:22 pm
Subject: Ghostwise
redmaple01ca
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Ghostwise is a 27 years old man with Duchenne Muscular Dystrophy
that you can find on Youtube.

just click on the following link:

http://www.youtube.com/watch?v=J6VgdtcfO_M

or copy and paste

You will find him on Youtube as Ghostwise

He has several interesting videos on Youtube.

He appears to be a celebrity on Youtube and an inspiring one.

ONe video of him titled Impressed shows him typing.


In May he won the right to appear in a TV commercial that will be
shown at the superbolw.

This young man has  a dream, and is pursuing it.

cheers, J.P.

#19842 From: "Joanne" <Joanne.Wechsler@...>
Date: Wed Jun 27, 2007 1:13 pm
Subject: PPMD Conference
jowechsler
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Hi,
Is anyone looking to share a room at PPMD Conference with another mom?
Joanne

#19841 From: "Rich Clingman" <NewRich@...>
Date: Tue Jun 26, 2007 5:32 pm
Subject: meiosis (was Re: please help)
bachniv
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While I've never heard of "partially" passing on DMD, I believe that when chromosomes are dividied & rejoined during "meiosis" to produce egg & sperm, *portions* of genes can be passed. This is, for example, why children can have hair color different than either of the parents.
 
I'm no biologist, but I'd guess that while "each boy has a 50% chance of inheriting DMD," there's a slight variance from "50%" as portions of genes are combined and new genetic errors are introduced.
 
Rich
 
PS: Here are some references about meiosis & cell division. I haven't really looked at them so I don't know how valuable or accurate they are...
 
----- Original Message -----
From: Adele
Sent: Tuesday, June 26, 2007 10:07 AM
Subject: RE: [MD-List] please help

Sorry, but I’m having a little problem understanding what they have told you.  My knowledge of genetics are little basic, but I’ve be under the idea that you pass the whole gene to you offspring, not part of one and part of another. 

 

Let us know what they find out when you have the amnio done.  Like I said, you either have the baby, or you don’t.  Either way, it’s a very tough decision to make.  Saying prayers for you.

 

Adele

 


From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of Mastercraft Technical Services
Sent: Tuesday, June 26, 2007 11:03 AM
To: MD-List@yahoogroups.com
Subject: Re: [MD-List] please help

 

charles,

 

They have done the CVS test and have told me that I have passed some of the good X and some of the Bad x asnd that this is very rare, I have to wait for another 3 week to find out about amniocentisus nothing has been clarified and i am very worried

----- Original Message -----

Sent: Sunday, June 24, 2007 9:23 PM

Subject: Re: [MD-List] please help

 

Hi,

 

DMD is caused by a flaw in the X chromosome of our DNA.  A female has 2 X chromosomes and a male has an X and a Y chromosome.  You will pass on one of your X chromosomes to your future children. Only one of your X chromosomes is effected with DMD so, if you have a boy, he will have a 50 percent chance of having DMD.  Also, if you have a girl, she will have a 50 percent chance of being a carrier of DMD.

 

I hope this clarifies this for you.

 

Charles

----- Original Message -----

From: query121

Sent: Saturday, June 23, 2007 7:18 AM

Subject: [MD-List] please help

 

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now


#19840 From: "Adele" <jasona65@...>
Date: Tue Jun 26, 2007 5:07 pm
Subject: RE: please help
navymom2josh
Online Now Online Now
Send Email Send Email
 

Sorry, but I’m having a little problem understanding what they have told you.  My knowledge of genetics are little basic, but I’ve be under the idea that you pass the whole gene to you offspring, not part of one and part of another. 

 

Let us know what they find out when you have the amnio done.  Like I said, you either have the baby, or you don’t.  Either way, it’s a very tough decision to make.  Saying prayers for you.

 

Adele

 


From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of Mastercraft Technical Services
Sent: Tuesday, June 26, 2007 11:03 AM
To: MD-List@yahoogroups.com
Subject: Re: [MD-List] please help

 

charles,

 

They have done the CVS test and have told me that I have passed some of the good X and some of the Bad x asnd that this is very rare, I have to wait for another 3 week to find out about amniocentisus nothing has been clarified and i am very worried

----- Original Message -----

Sent: Sunday, June 24, 2007 9:23 PM

Subject: Re: [MD-List] please help

 

Hi,

 

DMD is caused by a flaw in the X chromosome of our DNA.  A female has 2 X chromosomes and a male has an X and a Y chromosome.  You will pass on one of your X chromosomes to your future children. Only one of your X chromosomes is effected with DMD so, if you have a boy, he will have a 50 percent chance of having DMD.  Also, if you have a girl, she will have a 50 percent chance of being a carrier of DMD.

 

I hope this clarifies this for you.

 

Charles

----- Original Message -----

From: query121

Sent: Saturday, June 23, 2007 7:18 AM

Subject: [MD-List] please help

 

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now


#19839 From: "Mastercraft Technical Services" <elainemts@...>
Date: Tue Jun 26, 2007 3:02 pm
Subject: Re: please help
query121
Offline Offline
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charles,
 
They have done the CVS test and have told me that I have passed some of the good X and some of the Bad x asnd that this is very rare, I have to wait for another 3 week to find out about amniocentisus nothing has been clarified and i am very worried
----- Original Message -----
Sent: Sunday, June 24, 2007 9:23 PM
Subject: Re: [MD-List] please help

Hi,
 
DMD is caused by a flaw in the X chromosome of our DNA.  A female has 2 X chromosomes and a male has an X and a Y chromosome.  You will pass on one of your X chromosomes to your future children. Only one of your X chromosomes is effected with DMD so, if you have a boy, he will have a 50 percent chance of having DMD.  Also, if you have a girl, she will have a 50 percent chance of being a carrier of DMD.
 
I hope this clarifies this for you.
 
Charles
----- Original Message -----
From: query121
Sent: Saturday, June 23, 2007 7:18 AM
Subject: [MD-List] please help

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now


#19838 From: "Brian & Karen Wolf" <bkwolf@...>
Date: Mon Jun 25, 2007 11:53 pm
Subject: Re: please help
sbcbwolf
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Depending on how far along you are there is another test calls a CVS that is fairly invasive but can be done earlier than an amnio – you should check with a geneticist through your OBGYN.  Good luck!

 

The therapies and possible cures are right around the corner if you decide to keep the baby and he is positive for DM, there are plenty of resources to help you though everything.

 


#19837 From: ILuvMere@...
Date: Mon Jun 25, 2007 2:42 pm
Subject: Re: please help
iluvmere2003
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I believe the unborn baby can now be tested. If he has DMD/BMD, then you may either have a son with the disorder or choose to abort. Either way, it's a horrible choice to make but at least you will know one way or the other. I was in your shoes 28 years ago when I became pregnant. I had amniocentesis, which indicated my baby was a girl. My husband and I were spared that choice, but I remember the fear before we knew the sex of the baby. I am sure you will receive some very valuable advice from others who have made the choice you are facing. 
Carol




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#19836 From: Chris Coulson <robinc1961@...>
Date: Mon Jun 25, 2007 2:52 am
Subject: Re: please help
robinc1961
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Hi there,
      The best advice that I can give u is to stay in
very close contact with ur DR. as they will know what
to tell u to do or at least u would be able to tell u
where to go to possiably find out if he does.
                                   Chris

--- query121 <elainemts@...> wrote:

> I have been told I am a carrier my brother had
> duchene muscular
> distrophy and I need to know if my baby will
> definitely have this they
> have done the tests and told me its a boy and i have
> the gene what do I
> do now
>
>
>
>
> Yahoo! Groups Links
>
>
>
>
>






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#19835 From: "knuckles 145" <knuckles145@...>
Date: Sun Jun 24, 2007 10:05 pm
Subject: Re: please help
knuckles145us
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I think the amniocentesis test can tell you if he for sure has DMD or not.  I am a carrier of DMD (didn't find out until my son was diagnosed with it) and our family fits the odds.  My older son does not have it and my younger son does.
 
 
Beth M.

 
On 6/24/07, Adele <jasona65@...> wrote:

He there.  If you are a confirmed carrier of Duchenne, then each one of your sons has a 50% chance of having DMD.  Each one of your girls has an 50% chance of being a carrier.  I do not know if they can test the fetus to see if it has DMD or not.  This you will need to talk to a doctor about.  The only options you have at this point is to either have the baby and hope for the best or have an abortion.  I wish there was better news to give you.

 

Adele

 


From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of query121
Sent: Saturday, June 23, 2007 10:19 AM
To: MD-List@yahoogroups.com
Subject: [MD-List] please help

 

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now



#19834 From: "Adele" <jasona65@...>
Date: Sun Jun 24, 2007 8:50 pm
Subject: RE: please help
navymom2josh
Online Now Online Now
Send Email Send Email
 

He there.  If you are a confirmed carrier of Duchenne, then each one of your sons has a 50% chance of having DMD.  Each one of your girls has an 50% chance of being a carrier.  I do not know if they can test the fetus to see if it has DMD or not.  This you will need to talk to a doctor about.  The only options you have at this point is to either have the baby and hope for the best or have an abortion.  I wish there was better news to give you.

 

Adele

 


From: MD-List@yahoogroups.com [mailto:MD-List@yahoogroups.com] On Behalf Of query121
Sent: Saturday, June 23, 2007 10:19 AM
To: MD-List@yahoogroups.com
Subject: [MD-List] please help

 

I have been told I am a carrier my brother had duchene muscular
distrophy and I need to know if my baby will definitely have this they
have done the tests and told me its a boy and i have the gene what do I
do now


#19833 From: dragonflylili@...
Date: Sun Jun 24, 2007 4:48 pm
Subject: Re: please help
lushuss_lili
Offline Offline
Send Email Send Email
 
have your baby and love him no matter what...




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