Re: Re: Regarding Pre-natal Testing

[Guest guest]

Hi Kay:

Just a note on pre-natal testing - one of the items

that various SMA groups have been pressing NINDS &

other NIH groups is to have SMA testing to the normal

prescribed Pre-Natal testing regimen - to see if the

unborn child has the SMN1 gene or not. The idea is,

that should the unborn child have the homozygous smn1

deletion, that medication could be delivered as soon

as possible to cause the SMN2 gene to produce more of

the necessary full length SMN protein so that all

Motor Neurons develop normally - so that - the child

when born, is born SMA-free. This could have some

importance to your son, who is a carrier (like me) -

if and when he choses to have a family.

I don't disagree with your decision to not have any

pre-natal testing - we chose to not have certain tests

done ourselves. As like you, we would love our child,

fully and without hesistation, regardless of what any

pre-natal test indicated. My children are 100% what I

hoped for and dreamed of and more.

However, once treatments for SMA and other conditions

and diseases have been defined, - and like any such

that strike at early ages - some even before birth,

pre-natal testing will prove to be an invaluable

weapon to fight genetically caused problems - before

they become problems. Who knows where all current

research of genetics will lead - but in addition to

helping those adults and children with neurologic (or

other) conditions or diseases, perhaps the science of

the near future will help prevent future generations

from ever having them to begin with.

Mitch, SMA r, Grateful Husband to wonderful and

beautiful wife , & Very Proud Daddy to:

Bryce (Age 5, Funny, Brilliant, Charming, Darned Good

Looking, and SMA 3)

and

is (Age 3, Creative, Smart, Occasionally Silly,

Princess, Beautiful, Homozygous SMN1 Deletion - but

SMA symptom free)

--- K L <wildflower63@...> wrote:

>

> Hi Robin,

> I have SMA3. When I was originally diagnosed as a

> child it was Wordninghoffman. But apparently I out

> grew that. I used a manual chair on and off until I

> was about 26 when I got pregnant. I was able to walk

> before then but used the chair when I was out of the

> house. After I got pregnant I noticed weakness

> almost

> immediately and started using an electric one and

> have

> been in one permanantly since then. I had a very

> normal pregnancy. No complications at all. Doc said

> it

> was just as normal as anyone elses if not better.

> Had

> a C-Section 10 days before due date...didn't have

> any

> special testing (mainly because I wouldn't allow

> it..not even an Amnio) Told them they would find out

> if anything was wrong with the baby when I do. They

> said they probably wouldnt be able to tell with out

> test even after he was born and I said well I will

> know just by looking at him! So against their better

> judgement they said ok...Well what else could they

> say

> LOL. He will be 18 in September and is your typical

> teen. :-)

> --- Robin <roses4u@...> wrote:

>

> > Hi Kay, very interesting. Now, what type sma do

> > you have and are you walking or do you use a

> > wheelchair?

> > I am very interested in hearing about others in my

> > situation and their stories about raising their

> > kids. Can you tell me more about yourself and

> your

> > son? I have 2 sons, 12 and 17.

> > Robin

> >

> >

> > Re: OT: Paralyzed and

> > Pregnant on CNN

> >

> >

> > Hmmm ok I am not understanding why your

> " grumpy " .

> > Any publicity on

> > the " Disabled " is good. It enlightens people on

> > the fact that we live

> > just like anyone else and can do some of the

> very

> > same things as

> > other people such as getting married and having

> > children. Yes

> > sometimes I feel like " hey what about me? I did

> > that too! " But for

> > one the artical isn't about SMA people having

> > babies it is about

> > Paralized women having babies..having SMA isn't

> > under the same

> > category. We are not " Paralized " . In my family I

> > had the grandchild

> > they thought they would never have. I had been

> > pregnant 2 times

> > before I had my son but the " MDA " doctors TOLD

> me

> > not to go thru with

> > it because I would DIE! When I got pregnant the

> > 3rd time I said screw

> > this I am having this baby! That was 19 years

> ago

> > and my son is fine.

> > His dad was in the service and I was alone

> raising

> > him most of the

> > time...We all know you cant get help with

> raising

> > your kids if your

> > disabled unless you private hire. Now if your a

> > normal parent and

> > have a disabled child you can get help...makes

> no

> > sense to me but

> > thats just how it is...yet I did it by my self.

> > Went thru a divorce

> > when he was 11 and I went and got a job and

> > supported him on my own

> > with no child support and no welfare/food stamps

> > and was living in an

> > apartment that cost me $650 a month, with no

> > family around. I have

> > always lived far away from my family...either in

> > Colorado, South

> > Dakota (which is where I lived before I made the

> > moved to Washington

> > State and filed for divorce) all the while my

> > family lived on the

> > East coast...and still do! Think this makes a

> good

> > story? I do! But I

> > don't need any validation for my accomplishments

> > in life. Do I think

> > other people with the SMA should be recongnized?

> > Hell yes! But only

> > because it would give the public awareness of

> what

> > we can and have

> > done. It's not like you can't get your story out

> > there because you

> > can! All you have to do is call the news or

> paper

> > and say hey listen

> > I have a good public interest story...they will

> > take it.

> >

> >

> >

> >

> >

> > [Non-text portions of this message have been

> > removed]

> >

> >

>

>

> http://www.angelfire.com/sd/LP35/home.html

>

> __________________________________________________

>

[Guest guest]

Oh I agree with you 100%. I am wondering tho if they

had the medication 18 years ago when I was pregnant. I

was never under any impression they did because they

never said. To me it was more " We just want to see

whats going on in there " type thing. I mean after they

wanted to biopsy my leg because it was hurting ( i

didn't let them do that either) I called my local

OBGYN (I had one in Colorado Springs because in case i

went into labor early or some other emergency I didn't

have to worry about traveling an hour to Denver where

I was regularly being seen for my pregnancy...anyway i

called the OBGYN that i was also seeing locally and

told him what the MDA Doctors said and he said

....there was no need to biopsy ..just lay down and put

your feet up and take the pressure from your stomach

off your leg. ...and that's all it turned out to be.

So needless to say I was beginning to feel like a

Guinea pig by the MDA Docs so I wouldn't let them do

anything that my gut was telling me wasn't necessary.

--- <mongomustgolf@...> wrote:

> Hi Kay:

>

> Just a note on pre-natal testing - one of the items

> that various SMA groups have been pressing NINDS &

> other NIH groups is to have SMA testing to the

> normal

> prescribed Pre-Natal testing regimen - to see if the

> unborn child has the SMN1 gene or not. The idea is,

> that should the unborn child have the homozygous

> smn1

> deletion, that medication could be delivered as soon

> as possible to cause the SMN2 gene to produce more

> of

> the necessary full length SMN protein so that all

> Motor Neurons develop normally - so that - the child

> when born, is born SMA-free. This could have some

> importance to your son, who is a carrier (like me) -

> if and when he chooses to have a family.

>

> I don't disagree with your decision to not have any

> pre-natal testing - we chose to not have certain

> tests

> done ourselves. As like you, we would love our

> child,

> fully and without hesitation, regardless of what

> any

> pre-natal test indicated. My children are 100% what

> I

> hoped for and dreamed of and more.

>

> However, once treatments for SMA and other

> conditions

> and diseases have been defined, - and like any such

> that strike at early ages - some even before birth,

> pre-natal testing will prove to be an invaluable

> weapon to fight genetically caused problems - before

> they become problems. Who knows where all current

> research of genetics will lead - but in addition to

> helping those adults and children with neurologic

> (or

> other) conditions or diseases, perhaps the science

> of

> the near future will help prevent future generations

> from ever having them to begin with.

>

> Mitch, SMA r, Grateful Husband to wonderful

> and

> beautiful wife , & Very Proud Daddy to:

>

> Bryce (Age 5, Funny, Brilliant, Charming, Darned

> Good

> Looking, and SMA 3)

>

> and

>

> is (Age 3, Creative, Smart, Occasionally Silly,

> Princess, Beautiful, Homozygous SMN1 Deletion - but

> SMA symptom free)

>

> --- K L <wildflower63@...> wrote:

>

> >

> > Hi Robin,

> > I have SMA3. When I was originally diagnosed as a

> > child it was Wordninghoffman. But apparently I out

> > grew that. I used a manual chair on and off until

> I

> > was about 26 when I got pregnant. I was able to

> walk

> > before then but used the chair when I was out of

> the

> > house. After I got pregnant I noticed weakness

> > almost

> > immediately and started using an electric one and

> > have

> > been in one permanantly since then. I had a very

> > normal pregnancy. No complications at all. Doc

> said

> > it

> > was just as normal as anyone elses if not better.

> > Had

> > a C-Section 10 days before due date...didn't have

> > any

> > special testing (mainly because I wouldn't allow

> > it..not even an Amnio) Told them they would find

> out

> > if anything was wrong with the baby when I do.

> They

> > said they probably wouldnt be able to tell with

> out

> > test even after he was born and I said well I will

> > know just by looking at him! So against their

> better

> > judgement they said ok...Well what else could they

> > say

> > LOL. He will be 18 in September and is your

> typical

> > teen. :-)

> > --- Robin <roses4u@...> wrote:

> >

> > > Hi Kay, very interesting. Now, what type sma

> do

> > > you have and are you walking or do you use a

> > > wheelchair?

> > > I am very interested in hearing about others in

> my

> > > situation and their stories about raising their

> > > kids. Can you tell me more about yourself and

> > your

> > > son? I have 2 sons, 12 and 17.

> > > Robin

> > >

> > >

> > > Re: OT: Paralyzed and

> > > Pregnant on CNN

> > >

> > >

> > > Hmmm ok I am not understanding why your

> > " grumpy " .

> > > Any publicity on

> > > the " Disabled " is good. It enlightens people

> on

> > > the fact that we live

> > > just like anyone else and can do some of the

> > very

> > > same things as

> > > other people such as getting married and

> having

> > > children. Yes

> > > sometimes I feel like " hey what about me? I

> did

> > > that too! " But for

> > > one the artical isn't about SMA people having

> > > babies it is about

> > > Paralized women having babies..having SMA

> isn't

> > > under the same

> > > category. We are not " Paralized " . In my family

> I

> > > had the grandchild

> > > they thought they would never have. I had been

> > > pregnant 2 times

> > > before I had my son but the " MDA " doctors TOLD

> > me

> > > not to go thru with

> > > it because I would DIE! When I got pregnant

> the

> > > 3rd time I said screw

> > > this I am having this baby! That was 19 years

> > ago

> > > and my son is fine.

> > > His dad was in the service and I was alone

> > raising

> > > him most of the

> > > time...We all know you cant get help with

> > raising

> > > your kids if your

> > > disabled unless you private hire. Now if your

> a

> > > normal parent and

> > > have a disabled child you can get help...makes

> > no

> > > sense to me but

> > > thats just how it is...yet I did it by my

> self.

> > > Went thru a divorce

> > > when he was 11 and I went and got a job and

> > > supported him on my own

> > > with no child support and no welfare/food

> stamps

> > > and was living in an

> > > apartment that cost me $650 a month, with no

> > > family around. I have

> > > always lived far away from my family...either

> in

> > > Colorado, South

> > > Dakota (which is where I lived before I made

> the

> > > moved to Washington

> > > State and filed for divorce) all the while my

> > > family lived on the

> > > East coast...and still do! Think this makes a

> > good

> > > story? I do! But I

> > > don't need any validation for my

> accomplishments

> > > in life. Do I think

> > > other people with the SMA should be

> recongnized?

> > > Hell yes! But only

> > > because it would give the public awareness of

> > what

> > > we can and have

> > > done. It's not like you can't get your story

> out

> > > there because you

> > > can! All you have to do is call the news or

> > paper

> > > and say hey listen

> > > I have a good public interest story...they

> will

> > > take it.

> > >

> > >

> > >

> > >

> > >

> > > [Non-text portions of this message have been

> > > removed]

> > >

> > >

> >

> >

> > http://www.angelfire.com/sd/LP35/home.html

> >

> > __________________________________________________

> >