Re: i just found out i'm pregnant

[Guest guest]

I'm so sorry about your daughter. The stories of loss with this

disease are very heart-breaking and I cannot even imagine going

through that loss.

As far as the genetics go, you have a 1 in 4 chance of having another

child with SMA, if this baby has the same father that is. If not, the

father would also have to be a carrier of the disease for you to have

another affected child. My second son has SMA type II-III, so when I

was pregnant with my third son, I opted to have an amniocentesis so

that it could be sent for genetic testing. For us, a positive test

would not have made any difference as far as any choices we would have

made, but we just wanted to know what to expect and to know in advance

if it were something we needed to prepare for. Fortunately, he tested

negative. We just contacted a genetic counselor at the hospital where

I work, but your OB-gyn should also be able to provide you with those

resources. The counselor sat down with us and discussed the details of

SMA and the probabilities of the test being positive, though it was

all information that we really already knew. The amnio specimen was

sent to a lab, I believe it was Genzyme? and we got the results back

in about 2 weeks. I believe most insurances will pay for testing if

there is a known history of any type of genetic disease in the family.

The only thing we didn't do that we wish we would have was have the

carrier testing done so find out if he was a carrier of the gene since

both of my non-affected boys do still have a 50% chance of being a

carrier. This of course would not be pertinent unless they would one

day have children with another carrier, but it is information that I

would still like to know.

Good luck and I hope everything turns out well with this baby and that

he or she is very healthy and happy!

>

> I just found out last Friday that I'm pregnant. I lost my daughter

> Mckayla when she was 6 months old to SMA I in 2006. Can anyone tell

me

> about genetics testing while being pregnant, or any other tips? It

> would be greatly appreciated. Thanks!

>

> *Blessed Be*

> ENA

>

[Guest guest]

Thank you very much for your answer! I was thiking about

amniosentises, but wondered how far along one would have to be. I'll

ask when I go to the Dr. Thanks again!

*Blessed Be*

ENA

> >

> > I just found out last Friday that I'm pregnant. I lost my

daughter

> > Mckayla when she was 6 months old to SMA I in 2006. Can anyone

tell

> me

> > about genetics testing while being pregnant, or any other tips?

It

> > would be greatly appreciated. Thanks!

> >

> > *Blessed Be*

> > ENA

> >

>

[Guest guest]

I was told that the ideal time for an amnio is between about 13-15

weeks, so I had mine at around 14 weeks.

> > >

> > > I just found out last Friday that I'm pregnant. I lost my

> daughter

> > > Mckayla when she was 6 months old to SMA I in 2006. Can anyone

> tell

> > me

> > > about genetics testing while being pregnant, or any other tips?

> It

> > > would be greatly appreciated. Thanks!

> > >

> > > *Blessed Be*

> > > ENA

> > >

> >

>

[Guest guest]

thanks again! that'll prolly be the first thing i ask for when i ge

to the dr..

> > > >

> > > > I just found out last Friday that I'm pregnant. I lost my

> > daughter

> > > > Mckayla when she was 6 months old to SMA I in 2006. Can

anyone

> > tell

> > > me

> > > > about genetics testing while being pregnant, or any other

tips?

> > It

> > > > would be greatly appreciated. Thanks!

> > > >

> > > > *Blessed Be*

> > > > ENA

> > > >

> > >

> >

>

[Guest guest]

Ena,

Sorry, I'm just getting to this post...I'm behind on emails. There's a test

that can be done earlier than an amnio called CVS (chrorionic villus

sampling). It has to be done no later than 11-12 weeks gestation. My fiance's

sister had it done to find out the sex of the baby b/c if the fetus was a boy

she

would then get him tested for DMD, which was an out of pocket expense for

them. With DMD if it's a girl she cannot have the genotype for the disease,

just be a carrier. I found an article a family wrote on the FSMA site about

their experience w/CVS & SMA. Hope this helps.

_http://www.curesma.org/cvs01.shtml_ (http://www.curesma.org/cvs01.shtml)

Kimi

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In a message dated 3/7/2008 1:20:51 A.M. Eastern Daylight Time,

amysteve@... writes:

I was told that the ideal time for an amnio is between about 13-15

weeks, so I had mine at around 14 weeks.

> > >

> > > I just found out last Friday that I'm pregnant. I lost my

> daughter

> > > Mckayla when she was 6 months old to SMA I in 2006. Can anyone

> tell

> > me

> > > about genetics testing while being pregnant, or any other tips?

> It

> > > would be greatly appreciated. Thanks!

> > >

> > > *Blessed Be*

> > > ENA

> > >

> >

>

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