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Raising Special Needs Kids Raising Special Needs Kids

Possible 'Cure' for Down Syndrome Seems So Wrong

Possible 'Cure' for Down Syndrome Seems So Wrong

by Mary Fischer

baby handIn what is no doubt very interesting news, a new scientific breakthrough has found a molecule to "reverse" the effects of Down syndrome in mice.

The mice involved in the research were genetically altered to mimic the characteristics of Down syndrome, and when they were born, they were given injections of the molecule, called sonic hedgehog pathway agonist. It urges on a gene that generates a protein shown to normalize the growth of the cerebellum -- a part of the brain that is typically 60 percent of its normal size in people who have Down syndrome.

The injections were also shown to improve memory and learning, which are controlled by the hippocampus.

And while there are no plans to attempt this sort of treatment on human newborns -- it does raise the question of whether or not parents would want the injections for their babies if it ever did become an option.

After thinking long and hard about what I would do if I had a baby with Down syndrome and there was the option of trying to reverse it -- the decision suddenly became crystal clear. I'm just not sure I could bring myself to do it -- unless I knew 100 percent that there were absolutely no risks involved -- and that I wasn't necessarily "changing" who my baby was by allowing the treatment.

Here's the thing -- I'm an "everything happens for a reason and things are meant to be" type of person. And when it comes to babies, I firmly believe that you get the child you are supposed to have -- and you love that baby unconditionally no matter what.

I think that if I were to have a baby born with Down syndrome -- it would feel like I was somehow monkeying with nature by injecting him with something to physically alter who he is simply because he's not "perfect," -- and something about that doesn't seem right.

And I know the argument can be made that trying to "reverse" Down syndrome isn't really all that different from treating a baby who has an illness in the hopes of making him well again. But Down syndrome isn't a disease (or at least I've never thought of it that way at all) -- which makes me think that trying to reverse it is basically like trying to change a baby's genetic makeup.

But since being faced with making a decision like this is merely hypothetical, I guess I really can't know for sure how I would feel if I knew my child would not grow up and develop normally -- which is why I would never judge moms and dads who did make the choice to do this treatment should it ever become available to humans. Who knows -- maybe I'd feel the complete opposite if my son had Down syndrome. You can never really know what someone has gone through unless you walk a mile in their shoes, right?

The best thing any parents can do for their babies is whatever they feel in their hearts is the right thing. All we can really do is love our children wholeheartedly and do what we believe is best for them -- and hope that we've made the wisest possible choice.

Would you want your child to have this treatment?

by on Oct. 11, 2013 at 3:53 PM
Replies (11-20):
Jenn8604
by on Oct. 11, 2013 at 11:22 PM
1 mom liked this
I could never genetically alter my child.
Posted on CafeMom Mobile
letstalk747
by Joy on Oct. 12, 2013 at 11:01 AM

i would really have to research this alot and probly still say NO

jjamom
by Michele on Oct. 12, 2013 at 11:32 AM
2 moms liked this
I will say that it is one thing to have a friend whose brother has DS and entirely another to have a child of your own who has DS. When you have given birth to that child, nursed that child, seen that child grow before your eyes and seen their love of life, their laughter, their joy and sense of humor, and seen their very loving, empathetic, caring nature, you may feel very differently about changing that person. Sometimes all that people who are removed from the situation are able to see are the defects, but when you are the parent, you have the unique ability to see the beauty. I don't think God made mistakes with these people, I think he put them here to teach us a thing or two about how to live life the way he wishes we all would -- with a little more humility and a lot more compassion.


Quoting lancet98:

 


Yes those were stupid errors.  I shouldn't talk, watch a movie, and type in a post at the same time.   


Quoting Momof4AEMW:


I fought the urge to reply for as long as I could because I am not a confrontational person.  I will say respectfully that I find your post offensive, and with errors, however it is your right to your own opinion. 


For one, down syndrome, also known as trisomy 21, is not a 'deletion' as you refer to many times.  It is actually an additional chromosome;3 of the 21st so people withdowns have 47 chromosomes instead of 46.  I don't know where you have the death age of 30 in your head, the average life expectancyis 60 for down syndrome people and growing all the time, and the majority live some pretty amazing lives with modern intervention and medical advancements.  I understand the one person you know developed dementia at 25, and that is sad, but not the norm for this condition. 


Actually she told me that early dementia is very common with Down's Syndrome. 


The figure she gave me was 30% - which is about midway between the two extremes found in various studies.   She also said it is more prevalent, onsets earlier and is more severe, among people with DS with more severe DS.


Here is a quote from Stanton and Coetzee:


The prevalence of Alzheimer’s disease in people with Down’s syndrome rises with increasing age, and prevalence rates varying from 6% to 75% have been reported (Rabe et al, 1990; Visser et al, 1997). A recent study of 285 people with Down’s syndrome found a 13% prevalence of Alzheimer’s disease (Tyrell et al, 2001). Age-related cognitive decline and frontal lobe dementia appear to be more prevalent in the younger age groups (30–49 years of age), and frontal lobe dementia appears to be more prevalent in those with more severe learning disability, but this needs to be confirmed by further studies (Holland et al, 2000). It is possible that early-onset cases present with more frontal symptoms and this may represent a different clinical subtype of Alzheimer’s disease in Down’s syndrome. There appears to be no relationship between level of learning disability and risk of dementia or age at onset of dementia (Holland et al, 1998). The rate of deterioration appears to increase with age (Oliver et al, 1998). The level of pre-existing cognitive function is also closely associated with the rate of decline (Temple et al, 2001).


 


Many leave fully productive lives with jobs, marry, and become independently functional.  


I have met a lot of people with Down's Syndrome.   One was 65, in the 'old days' he had been institutionalized as a toddler, and had just been 'dumped' when a state hospital closed, right before I met him.


I was horrified.   No one had ever even bothered to give the dear man an education or teach him anything.   He just sat around in an institution all his life.   He was the sweetest person.  I am glad those days are over for the most part.  He went right from the institution to all the activities the Living Center had to offer - dance, art, and lots of other activities. 


I've met people who had various different levels of independence with DS.   Some worked in sheltered jobs, most had relationships, friends, rich lives.   Some were more independent, some less.


I've met several who were in early stages of dementia and were receiving treatment for dementia.   My friend's brother was the worst I had seen re dementia - he was not getting treatment as it was going that fast.   He was in his late 20's, the doc had said that he probably would not survive long.   She had asked me to come over to try to help with his hygeine as it was getting just impossible to do any sort of thing like that with him.


The age she told me, 30, she said would be a lifespan for those getting the most severe dementia the earliest on.   Other articles I read gave a lifespan of 'midlife' or 'middle age'.


This was a huge shock to me.   While reading so much about autism and other disorders, I hadn't realized that there was any increased risk of dementia at all, in DS.   After entertaining him and helping her I went out to my car and cried for 30 min.   I couldn't believe it.   How could this even be?


And finally, I have a child with down syndrome and a child with autism as you refer to.  They are amazing, happy children who will lead fulfilling and enjoyable lives.  They are a huge blessing and bring joy to our family every day. 


Of course they are.   I never said they wouldn't be.


What I did say that if it was my child, I would make a decision to provide a cure, if a cure was available some day, and if it was safe.


You would not make the same decision?   More power to you.   My decision would be different from yours.   That does not mean there is something wrong with you, and it does not mean there is something wrong with me.


I also stressed that this article is VERY premature and that what they desribe, the SSH, would only treat some aspects of DS.   It would not address the heart condition and other aspects.   Maybe such a thing could, but again, that is so far into the future.


Bleacheddecay
by Bronze Member on Oct. 12, 2013 at 11:36 AM

If there were a safe, proven, way to make my kids not have the issues they have I would absolutely do it.

darbyakeep45
by Darby on Oct. 12, 2013 at 11:52 AM
1 mom liked this

Well said.  Totally agree.

Quoting Momof4AEMW:

I would love if some of the medical issues and challenges my daughter with down syndrome faces were not part of her life.  However, I do not believe in a cure or a magic drug to change a person's chromosomes, and to me it is not worth the risk.  I'd love to change her struggles, but never change her.  She is perfect to me as she is, and she wouldn't be the wonderful little self she is if she didn't have down syndrome.  She was meant to be the way she is, and she was meant for me! 


darbyakeep45
by Darby on Oct. 12, 2013 at 12:00 PM
1 mom liked this

She likes to think she knows what she's talking about for sure...she made similiar ridiculous comments on my post about the parents aborting their child with CF.  She questioned me, stating that "most people commenting in that post knew nothing about CF"...like she knows anything about CF?  She claims she does, and now she claims to know everything about DS.  I suppose she has a child with DS and a child with CF.  What's next?

Quoting Momof4AEMW:

I fought the urge to reply for as long as I could because I am not a confrontational person.  I will say respectfully that I find your post offensive, and with errors, however it is your right to your own opinion. 

For one, down syndrome, also known as trisomy 21, is not a 'deletion' as you refer to many times.  It is actually an additional chromosome;3 of the 21st so people withdowns have 47 chromosomes instead of 46.  I don't know where you have the death age of 30 in your head, the average life expectancyis 60 for down syndrome people and growing all the time, and the majority live some pretty amazing lives with modern intervention and medical advancements.  I understand the one person you know developed dementia at 25, and that is sad, but not the norm for this condition.  Many leave fully productive lives with jobs, marry, and become independently functional.  And finally, I have a child with down syndrome and a child with autism as you refer to.  They are amazing, happy children who will lead fulfilling and enjoyable lives.  They are a huge blessing and bring joy to our family every day. 

Quoting lancet98:

Sonic hedghog is a ligand, and it may be used to treat cancer some day too.  

Yes, there is the possibility that perhaps some day, such a thing could be used to prevent damage to the brain by developmental disorders.

The beauty of such a possibility (and today it is only a possibility) is that it is not a drug but a natural product of the body.

But the idea in the article that it is some sort of pie in the sky cure for DS, is a LITTLE premature, LOL.

Down Syndrome is in fact a disease and it affects many if not all systems of the body, for example ppl with DScan have profound defects of the heart.   Too, early dementia is a great risk- my friend's brother with DS got dementia at age 25.   It was a nightmare.   

By the same token, the article has the same flaw as many of the posts here.   It attempts to suggest that the entire condition is limited to nothing more than the hippocampus and the cerebellum or is nothing more than developmental delay.   The hippocampus and cerebellum are important in nearly all brain disorders of course but they are HARDLY the only thing affected by DS.

Further, DS can be extremely severe or it can be mild.   Some people having DS are like 'Corky', a character on a tvshow played by a young man with DS, who acted, worked, etc.   Others with DS are much more profoundly disabled.

My own feeling is that the treatment in the article is light years away from 'curing' DS and it is ridiculous to talk about such a thing 'curing' a big gene deletion like DS.

The only real way to repair a huge deletion like DS and EVERYTHING it does or can do, might actually be to repair the actual gene, very, very early in conception, long before the brain starts to develop.   That would be a REAL tough thing to do today.  Today, impossible.

Someday we will be able to repair these big deletions very early on and then people will have to decide individually for our minor children, or for our adults selves(regarding conditions that are 100% adult onset), what we want to do about it.

But I WOULD like to lessen a person's mental retardation, prevent people from getting dementia at 25, and prevent heart defects.

My own feeling on this and 'cures' for many disorders is that there are MANY disorders that I wish we could mitigate or lessen, so the person did not have to suffer a miserable unhappy, isolated life or cause their family years of agony worrying over their safety.  

I am less sure that I want all people to be the same, or all people to have the same IQ, or no one to ever have any mental illness....but I'm also sure that if cures were found for these really complex diseases, they would be very expensive, and many people would not be able to afford them.

My friends with schizophrenia are not in general, I would say, delighted to have schizophrenia.   As Mark Vonnegut said when someone suggested that schizwas a sort of pleasant and spiritual journey, 'The only thing you can do with people like that is bite them'.

I also do not make the mistake of pretending that my friends ARE their disability.   They are much more than that and their personalities are not obliterated by any illness or any disease.   They are who they are, outside that illness.  

If some day there was a cure for some of these complex and far-reaching illnesses/conditions, I am confident that my friends are much much more than just an illness or disorder, and that if they chose to get that cure, they would still be the same amazing and incredible people.

I think it is a cruel joke to suggest that a disability that would kill someone before their 30th birthday is really some sort of desirable blessing - if my son had DS, or schiz, or autism and it was my decision instead of theirs for some reason, I would get them a cure, or a way to lessen their disorder, if it was safe.   And  would be VERY confident that they would STILL be amazing, lovable and unlike anyone else in this entire world.

 


Momof4AEMW
by Gold Member on Oct. 12, 2013 at 12:32 PM

Ha! Lol!  I was actually starting to wonder if she even had kids, let alone one with special needs based on her comments. 

Quoting darbyakeep45:

She likes to think she knows what she's talking about for sure...she made similiar ridiculous comments on my post about the parents aborting their child with CF.  She questioned me, stating that "most people commenting in that post knew nothing about CF"...like she knows anything about CF?  She claims she does, and now she claims to know everything about DS.  I suppose she has a child with DS and a child with CF.  What's next?

Quoting Momof4AEMW:

I fought the urge to reply for as long as I could because I am not a confrontational person.  I will say respectfully that I find your post offensive, and with errors, however it is your right to your own opinion. 

For one, down syndrome, also known as trisomy 21, is not a 'deletion' as you refer to many times.  It is actually an additional chromosome;3 of the 21st so people withdowns have 47 chromosomes instead of 46.  I don't know where you have the death age of 30 in your head, the average life expectancyis 60 for down syndrome people and growing all the time, and the majority live some pretty amazing lives with modern intervention and medical advancements.  I understand the one person you know developed dementia at 25, and that is sad, but not the norm for this condition.  Many leave fully productive lives with jobs, marry, and become independently functional.  And finally, I have a child with down syndrome and a child with autism as you refer to.  They are amazing, happy children who will lead fulfilling and enjoyable lives.  They are a huge blessing and bring joy to our family every day. 

Quoting lancet98:

Sonic hedghog is a ligand, and it may be used to treat cancer some day too.  

Yes, there is the possibility that perhaps some day, such a thing could be used to prevent damage to the brain by developmental disorders.

The beauty of such a possibility (and today it is only a possibility) is that it is not a drug but a natural product of the body.

But the idea in the article that it is some sort of pie in the sky cure for DS, is a LITTLE premature, LOL.

Down Syndrome is in fact a disease and it affects many if not all systems of the body, for example ppl with DScan have profound defects of the heart.   Too, early dementia is a great risk- my friend's brother with DS got dementia at age 25.   It was a nightmare.   

By the same token, the article has the same flaw as many of the posts here.   It attempts to suggest that the entire condition is limited to nothing more than the hippocampus and the cerebellum or is nothing more than developmental delay.   The hippocampus and cerebellum are important in nearly all brain disorders of course but they are HARDLY the only thing affected by DS.

Further, DS can be extremely severe or it can be mild.   Some people having DS are like 'Corky', a character on a tvshow played by a young man with DS, who acted, worked, etc.   Others with DS are much more profoundly disabled.

My own feeling is that the treatment in the article is light years away from 'curing' DS and it is ridiculous to talk about such a thing 'curing' a big gene deletion like DS.

The only real way to repair a huge deletion like DS and EVERYTHING it does or can do, might actually be to repair the actual gene, very, very early in conception, long before the brain starts to develop.   That would be a REAL tough thing to do today.  Today, impossible.

Someday we will be able to repair these big deletions very early on and then people will have to decide individually for our minor children, or for our adults selves(regarding conditions that are 100% adult onset), what we want to do about it.

But I WOULD like to lessen a person's mental retardation, prevent people from getting dementia at 25, and prevent heart defects.

My own feeling on this and 'cures' for many disorders is that there are MANY disorders that I wish we could mitigate or lessen, so the person did not have to suffer a miserable unhappy, isolated life or cause their family years of agony worrying over their safety.  

I am less sure that I want all people to be the same, or all people to have the same IQ, or no one to ever have any mental illness....but I'm also sure that if cures were found for these really complex diseases, they would be very expensive, and many people would not be able to afford them.

My friends with schizophrenia are not in general, I would say, delighted to have schizophrenia.   As Mark Vonnegut said when someone suggested that schizwas a sort of pleasant and spiritual journey, 'The only thing you can do with people like that is bite them'.

I also do not make the mistake of pretending that my friends ARE their disability.   They are much more than that and their personalities are not obliterated by any illness or any disease.   They are who they are, outside that illness.  

If some day there was a cure for some of these complex and far-reaching illnesses/conditions, I am confident that my friends are much much more than just an illness or disorder, and that if they chose to get that cure, they would still be the same amazing and incredible people.

I think it is a cruel joke to suggest that a disability that would kill someone before their 30th birthday is really some sort of desirable blessing - if my son had DS, or schiz, or autism and it was my decision instead of theirs for some reason, I would get them a cure, or a way to lessen their disorder, if it was safe.   And  would be VERY confident that they would STILL be amazing, lovable and unlike anyone else in this entire world.

 


 

CYNTHIA8401
by Member on Oct. 12, 2013 at 6:29 PM
1 mom liked this
I wouldn't do this I couldn't imagine changing my son and the way he was born yes it's hard and I have no idea what his future holds but god made him the way he did and I love him he's truly AMAZING!
Bluecalm
by Silver Member on Oct. 12, 2013 at 6:40 PM

Quoting DDDaysh:

There isn't enough information here about the possible risks for anyone to make an informed decision.  

However, if this treatment was "safe", I can't imagine not using it.  From what I can tell in the article, it merely reverses the stunted brain growth the chromosomal abnormality caused.  If the treatment was safe and available, NOT giving my child the treatment would seem to me like I was purposefully giving my child brain damage.  

Then again, I give my child "brain altering" ADHD drugs every single day.  I take anti-anxiety medication that alters my brain as well.  I'm ok knowing that my brain does not function perfectly on its own and to know there are things about neural functioning that are good to change.  So maybe that's why I don't freak out so much.  

Let's change the question a bit.  Let's suppose that there was a genetic test for paranoid schizophrenia and you could know as soon as a child was born that they'd develop the dissorder.  There was an injection that would change their brain growth so that they didn't develop the dissorder.  Would you do that?  


Actually, there is genetic testing that shows a risk for schizophrenia and lots of other conditions. My son's deletion is associated with it, but in a different band than his so he is not at risk. When people have chromosomal abnormalities, you know what genes are affected so you know your child may one day develop those things.
MomOfOneCoolKid
by Member on Oct. 12, 2013 at 8:53 PM

My son has adhd/autism and the hippocampus is a big deal with regard to his working memory. I hope it helps those like my son w// adhd to have a better working memory.

As for DS, I can't and won't speculate b/c I just can't.

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