Re: newborn screening for SMA

[Guest guest]

The reason the FSMA and other SMA Charitable groups

are pushing for newborn testing - is quite the

opposite from what is suggested below. With effective

therapeutic treatment practically upon us now - a

treatment that addresses the root cause of motor

neuron death - i.e. lack of sufficient full length SMN

protein - most researchers will agree the sooner a

child diagnosed with SMA is treated - the better. The

idea, at least in my lay-person understanding, is to

begin treating the child prior to birth - if SMA has

been identified.

These same therapeutic treatments will help those

older with SMA - though lost motor neurons will only

be replaced via some sort of stem cell therapy.

--- <way2square@...> wrote:

> I read FSMA's update on their initiative to promote

> newborn

> screening for SMA. I have always been a bit puzzled

> by this push to

> get SMA on the list of diseases which are

> automatically offered to

> expecting parents. Since there is presently no

> treatment for SMA,

> what are parents supposed to do with this

> information except

> possibly consider abortion? Why would a SMA parent

> support group be

> working to reduce the incidence of SMA by promoting

> abortion of

> disabled kids? Am I the only one who noticed this?

>

> I recall that when we were getting the ultrasound

> and stuff for

> before she was born we were offered a

> screening for downs

> syndrome. Of course, at that time we had no idea

> would be

> born with SMA, but an optional screening for downs

> syndrome is

> apparently offered by law. We opted not to have

> that test done

> because we figured we'd just deal with whatever came

> along. A

> couple years later, I remember reading somewhere

> that the incidence

> of people with downs syndrome has dramatically

> declined since 1980

> due to newborn screening. This was hailed as a

> triumph of modern

> science.

>

> Do I understand this right? Does FSMA want to

> reduce SMA by making

> sure fewer kids with SMA even get to be born? I am

> not necessarily

> an anti-abortion person, but does anyone else find

> this rather

> macabre?

>

> Why aren't the people from " Not Dead Yet " out

> protesting this?

>

> Just wondering,

>

>

>

>

>

>

>

__________________________________________________

[Guest guest]

I checked with FSMA's legislative person and got this answer:

You are correct that carrier testing and newborn screening are

different. r testing is a blood test that allows people of

childbearing age to determine if they are carriers of SMA. As I'm sure

you know, two carriers have a 1/4 chance of having a child affected by

SMA and a 1/2 chance of having a child that is a carrier of the disease

but otherwise unaffected by the disorder. While some have touted it as

a preventive measure, the true purpose of this testing is to permit SMA

carriers to make more informed reproductive decisions.

Newborn screening is also a blood test, but it is a test performed on a

newborn child to determine if she/he is affected by SMA. The purpose of

this test is to help identify SMA-affected children presymptomatically,

prior to significant motor neuron atrophy. Research seems to indicate

that treating SMA at this early stage is more effective. In the future,

once a cure is discovered and available, all newborns will be tested for

SMA and treated immediately. In the interim, SMA affected newborns will

be able to receive immediate dietary and respiratory care and

participate in drug discovery and clinical trials much earlier in the

disease's progression. This a good thing for affected children, their

families, and researchers looking for a cure.

While both tests are a major step forward for SMA awareness and

education, Families of SMA is focusing its efforts on newborn testing

because it goes hand-in-hand with the research it is funding. We feel

that it is a very important component of a comprehensive diagnosis and

cure paradigm.

I hope that clarifies things. Let me know if anything remains unclear

or if you have more questions.

Thanks!

Spencer

[Guest guest]

I wondered as well as to what good it will do, unless there is some

specific treatments that can be targetted on new borns with SMA

which will cure/ prevent muscle degeneration. I wonder why the money

is spend in this direction rather than educate public that one in 37

is a carrier and doing a carrier test may be a more sensible thing

to do.

>

> I read FSMA's update on their initiative to promote newborn

> screening for SMA. I have always been a bit puzzled by this push

to

> get SMA on the list of diseases which are automatically offered to

> expecting parents. Since there is presently no treatment for SMA,

> what are parents supposed to do with this information except

> possibly consider abortion? Why would a SMA parent support group

be

> working to reduce the incidence of SMA by promoting abortion of

> disabled kids? Am I the only one who noticed this?

>

> I recall that when we were getting the ultrasound and stuff for

> before she was born we were offered a screening for downs

> syndrome. Of course, at that time we had no idea would be

> born with SMA, but an optional screening for downs syndrome is

> apparently offered by law. We opted not to have that test done

> because we figured we'd just deal with whatever came along. A

> couple years later, I remember reading somewhere that the

incidence

> of people with downs syndrome has dramatically declined since 1980

> due to newborn screening. This was hailed as a triumph of modern

> science.

>

> Do I understand this right? Does FSMA want to reduce SMA by

making

> sure fewer kids with SMA even get to be born? I am not

necessarily

> an anti-abortion person, but does anyone else find this rather

> macabre?

>

> Why aren't the people from " Not Dead Yet " out protesting this?

>

> Just wondering,

>

>

[Guest guest]

I want to state something just to see if I am correct in my thinking ... SMA

is NOT a muscle degenerative disorder as its the motor neurons along skeletal

muscles that are defective which causes them to atrophy. Yes? No?

And our muscle fibers themselves are healthy and would flourish fine if the MN

were functioning properly. Yes? No?

Angie

On Monday 07 August 2006 16:36, kavi_bal wrote:

> I wondered as well as to what good it will do, unless there is some

> specific treatments that can be targetted on new borns with SMA

> which will cure/ prevent muscle degeneration. I wonder why the money

> is spend in this direction rather than educate public that one in 37

> is a carrier and doing a carrier test may be a more sensible thing

> to do.

>

>

> > I read FSMA's update on their initiative to promote newborn

> > screening for SMA. I have always been a bit puzzled by this push

>

> to

>

> > get SMA on the list of diseases which are automatically offered to

> > expecting parents. Since there is presently no treatment for SMA,

> > what are parents supposed to do with this information except

> > possibly consider abortion? Why would a SMA parent support group

>

> be

>

> > working to reduce the incidence of SMA by promoting abortion of

> > disabled kids? Am I the only one who noticed this?

> >

> > I recall that when we were getting the ultrasound and stuff for

> > before she was born we were offered a screening for downs

> > syndrome. Of course, at that time we had no idea would be

> > born with SMA, but an optional screening for downs syndrome is

> > apparently offered by law. We opted not to have that test done

> > because we figured we'd just deal with whatever came along. A

> > couple years later, I remember reading somewhere that the

>

> incidence

>

> > of people with downs syndrome has dramatically declined since 1980

> > due to newborn screening. This was hailed as a triumph of modern

> > science.

> >

> > Do I understand this right? Does FSMA want to reduce SMA by

>

> making

>

> > sure fewer kids with SMA even get to be born? I am not

>

> necessarily

>

> > an anti-abortion person, but does anyone else find this rather

> > macabre?

> >

> > Why aren't the people from " Not Dead Yet " out protesting this?

> >

> > Just wondering,

> >

>

> A FEW RULES

>

> * The list members come from many backgrounds, ages and beliefs So all

> members most be tolerant and respectful to all members.

>

> * Some adult language and topics (like sexual health, swearing..) may

> occur occasionally in emails. Over use of inappropriate language will

> not be allowed. If your under 16 ask your parents/gaurdian before you

> join the list.

>

> * No SPAMMING or sending numerous emails unrelated to the topics of

> spinal muscular atrophy, health, and the daily issues of the disabled.

>

> Post message:

> Subscribe: -subscribe

> Unsubscribe: -unsubscribe

>

> List manager: (Sexy Mature Artist) Email: Esma1999@...

>

>

>

>

> oogroups.com

>

> List manager: (Sexy Mature Artist) Email: Esma1999@...

>

>

>

>

>

>

[Guest guest]

Angie

This is what I found on MDA site

Muscle degeneration in SMA is caused by an insufficient amount of

the SMN protein present in motor neurons. Two nearly identical

genes - SMN1 and SMN2 - produce the needed SMN protein in healthy

muscle. In SMA, the SMN1 gene is either missing or mutated, and the

SMN2 gene doesn't produce enough full-length protein to compensate

for the loss of protein that should be manufactured by SMN1.

> > > I read FSMA's update on their initiative to promote newborn

> > > screening for SMA. I have always been a bit puzzled by this

push

> >

> > to

> >

> > > get SMA on the list of diseases which are automatically

offered to

> > > expecting parents. Since there is presently no treatment for

SMA,

> > > what are parents supposed to do with this information except

> > > possibly consider abortion? Why would a SMA parent support

group

> >

> > be

> >

> > > working to reduce the incidence of SMA by promoting abortion of

> > > disabled kids? Am I the only one who noticed this?

> > >

> > > I recall that when we were getting the ultrasound and stuff for

> > > before she was born we were offered a screening for downs

> > > syndrome. Of course, at that time we had no idea would

be

> > > born with SMA, but an optional screening for downs syndrome is

> > > apparently offered by law. We opted not to have that test done

> > > because we figured we'd just deal with whatever came along. A

> > > couple years later, I remember reading somewhere that the

> >

> > incidence

> >

> > > of people with downs syndrome has dramatically declined since

1980

> > > due to newborn screening. This was hailed as a triumph of

modern

> > > science.

> > >

> > > Do I understand this right? Does FSMA want to reduce SMA by

> >

> > making

> >

> > > sure fewer kids with SMA even get to be born? I am not

> >

> > necessarily

> >

> > > an anti-abortion person, but does anyone else find this rather

> > > macabre?

> > >

> > > Why aren't the people from " Not Dead Yet " out protesting this?

> > >

> > > Just wondering,

> > >

> >

> > A FEW RULES

> >

> > * The list members come from many backgrounds, ages and beliefs

So all

> > members most be tolerant and respectful to all members.

> >

> > * Some adult language and topics (like sexual health,

swearing..) may

> > occur occasionally in emails. Over use of inappropriate language

will

> > not be allowed. If your under 16 ask your parents/gaurdian

before you

> > join the list.

> >

> > * No SPAMMING or sending numerous emails unrelated to the topics

of

> > spinal muscular atrophy, health, and the daily issues of the

disabled.

> >

> > Post message:

> > Subscribe: -subscribe

> > Unsubscribe: -unsubscribe

> >

> > List manager: (Sexy Mature Artist) Email: Esma1999@...

> >

> >

> >

> >

> > oogroups.com

> >

> > List manager: (Sexy Mature Artist) Email: Esma1999@...

> >

> >

> >

> >

> >

> >

[Guest guest]

Mitch is right. The idea is to find out if the kid has SMA as soon as

possible, thus making the treatments that are getting closer by the

day more effective.

But the biggest point is that this is NEWBORN screening, not prenatal

screening. The babies will have already been born when the test is

done, so abortion will not be an option, whatever the result.

Tokyo

2006/8/8, <way2square@...>:

>

> I read FSMA's update on their initiative to promote newborn

> screening for SMA. I have always been a bit puzzled by this push to

> get SMA on the list of diseases which are automatically offered to

> expecting parents. Since there is presently no treatment for SMA,

> what are parents supposed to do with this information except

> possibly consider abortion? Why would a SMA parent support group be

> working to reduce the incidence of SMA by promoting abortion of

> disabled kids? Am I the only one who noticed this?

>

> I recall that when we were getting the ultrasound and stuff for

> before she was born we were offered a screening for downs

> syndrome. Of course, at that time we had no idea would be

> born with SMA, but an optional screening for downs syndrome is

> apparently offered by law. We opted not to have that test done

> because we figured we'd just deal with whatever came along. A

> couple years later, I remember reading somewhere that the incidence

> of people with downs syndrome has dramatically declined since 1980

> due to newborn screening. This was hailed as a triumph of modern

> science.

>

> Do I understand this right? Does FSMA want to reduce SMA by making

> sure fewer kids with SMA even get to be born? I am not necessarily

> an anti-abortion person, but does anyone else find this rather

> macabre?

>

> Why aren't the people from " Not Dead Yet " out protesting this?

>

> Just wondering,

>

>

>

[Guest guest]

Even though there may be good intentions behind some medical

advances like prenatal testing, surely you'd agree that there are

frequently unintended moral consequences that must be equally

weighed. There's no better example than the one I mentioned before.

In the UK, more babies with down syndrome are aborted than allowed

to be born. In the USA, 80% of babies prenatally diagnosed with down

syndrome are not allowed to be born. (I don't have any statistics

for Canada.) I think it's reasonable to at least ask pointed

questions as we push for legally mandated testing for SMA since

prenatal testing for down syndrome has resulted in a virtual

genocide for disabled children.

I was glad to read Betty Lou's explanation of how FSMA is focusing

their efforts on testing that will be used in conjunction with

anticipated treatments. But, they have no control over what will

result if some legislative body adds SMA to the menu of mandatory

newborn screening. A single-minded focus on trying to set the stage

for SMA treatments that do not yet exist could have exponential

negative implications in the political/social arena.

Everyone here probably knows someone with Down Syndrome. They are

the gentlest, kindest people you will ever meet and they have

productive, meaningful lives. Yet, for a matter of convenience they

are killed by the thousands every year. This fact is swept under

the carpet because society perceives disabled kids as having no

value anyway. You could easily foresee the same thing happening

when parents-to-be are told, " You may have a child who cannot walk. "

If the same thing begins happening with SMA births, then it's just a

little too convenient that FSMA has covered their a** with an

intricately nuanced claim, " Well, that's not exactly what WE pushed

for. " Yeah, but FSMA may have contributed to the environment in

which it occurred!

I am not accusing anyone of anything. I would just like to see such

issues addressed more clearly.

>

> The reason the FSMA and other SMA Charitable groups

> are pushing for newborn testing - is quite the

> opposite from what is suggested below. With effective

> therapeutic treatment practically upon us now - a

> treatment that addresses the root cause of motor

> neuron death - i.e. lack of sufficient full length SMN

> protein - most researchers will agree the sooner a

> child diagnosed with SMA is treated - the better. The

> idea, at least in my lay-person understanding, is to

> begin treating the child prior to birth - if SMA has

> been identified.

>

> These same therapeutic treatments will help those

> older with SMA - though lost motor neurons will only

> be replaced via some sort of stem cell therapy.

[Guest guest]

This is not about prenatal testing! FSMA is pushing for NEWBORN screening.

These tests will be performed on NEWBORN BABIES, in the same way as

the Apgar test is performed on newborns. As the babies will already

have been born, there will be no question whatsoever of abortion. The

down syndrome analogy is therefore completely irrelevant.

The tests have one aim: to diagnose SMA earlier in life, thus enabling

treatment, physiotherapy etc. to start as early as possible. I can't

see any moral issues with that at all.

,

Tokyo

[Guest guest]

,

My question was that if FSMA promotes government-mandated testing for

SMA, what are they doing to ensure that either the legislation or the

science will not create an environment that harms children with SMA?

For example, why is FSMA not simultaneously backing the Prenatally

Diagnosed Conditions Awareness Act? (see

http://brownback.senate.gov/pressapp/record.cfm?id=233702)

The example of what happened with down syndrome testing in the 1980's

is completely relevant. Down syndrome advocates pushed for newborn

testing by claiming that if they were given this option, science would

then be freed to find a cure. Clearly, the cure is now killing off

these kids. No one grasped that science can at times be

irresponsible, so they didn't bother to consider any measure to ensure

that human life would be respected.

What is FSMA doing to ensure that this doesn't happen with SMA

children? So far, it appears that they are avoiding the issue and

placing blind faith in emerging science to find an elusive cure.

Meanwhile, there's plenty of disability rights legislation FSMA could

support which promotes the respect and dignity of disabled children.

>

> This is not about prenatal testing! FSMA is pushing for NEWBORN

screening.

> These tests will be performed on NEWBORN BABIES, in the same way as

> the Apgar test is performed on newborns. As the babies will already

> have been born, there will be no question whatsoever of abortion. The

> down syndrome analogy is therefore completely irrelevant.

>

> The tests have one aim: to diagnose SMA earlier in life, thus

enabling

> treatment, physiotherapy etc. to start as early as possible. I can't

> see any moral issues with that at all.

>

> ,

> Tokyo

>