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Concerned for a friend
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Concerned for a friend

My friend is 21 weeks pregnant and was told today that her little boy might have an Atrioventricular Septal Defect. She is really devastated and is thinking the worst at the moment. She was also told that her baby might have Downs Syndrome. She had an amniocentesis today also and will get the results on Friday. I was just wondering if anyone else went through a similar situation when they were pregnant and is there a chance of her having a healthy baby?
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Dear Rarmst,

First please pass on congratulations to your friend on her pregnancy.  I have a son who has Down syndrome, which was detected by Amnio which I opted to have due to my age of 35 at the time, and not because of any other findings on ultrasounds.

Interestingly at the time, we didn't have any ultrasounds that showed any heart issues such as the one he actually was born with (ASD) which you describe that her baby might have (as seen on an ultrasound).

Can I just say - I too was initially shocked and saddened to learn that our son had Ds, until I did the research.  Ds was not what we thought it was.  It isn't the horrible vision that we all have in our minds until we actually learn about it.  It's hard for me to explain - everything through just a post - but if you could see, or take a look at my blog - it isn't the horrible thing she's envisioning.  When our son was born - other then this ASD which was told to us was on the larger side (hole between the chambers) 8mm, it closed all on its own, and he is perfectly healthy.  Ds doesn't mean that the child will be sick or ill - so her chances of having a "healthy baby" is the same as having a typical baby.

I would like to offer a few things for her.  I have been appointed a parent guide for anyone (parents, families) who receive a diagnosis of Ds.  I am the first one to know that she probably has a million questions, including questions about the Amnio (which by this point she might have already had).  I have a phone number which she can call to contact me if she wishes, but I realise being in Australia and me In Canada, it may be expensive to speak via phone.  I have email and MSN so perhaps I can be helpful in other ways.

My blog is the next place I recommend her to visit.  It is all about "REAL" life and other resourceful information about Ds.  Our everyday life - which is extremely typical.  Our son has done everything that every other baby does, and in typical time frames.  She can read my blog at www.welcometoourhouse-myjournal.blogspot,com .  I am also working on a fully loaded resource website for Down syndrome.  Everything and anything you would want to know with respect to Ds.  In my blog I have a page that is dedicated to "Down syndrome - the Diagnosis" - perhaps she would be interested in reading that, to gain a different but reality based perspective.  I have also written 4 books and am in the process of writing a book that talks about our whole journey and also include stories from moms around the world that talk about their feelings regarding discovery of the diagnosis, and then how they feel today.  

I know it's tough.  It's never easy to receive information that your baby isn't what you thought, or the dreams that you thought you had for your child seem to vanish along with hope - BUT, they haven't.  All those dreams still come true along with all the hopes.  I promise.  It isn't what you think.  Many of us have been in her shoes thinking the exact same thing.  And I know it will be hard for her to believe this - but if her child does have Ds, and a year goes by - she will look back at this post and wonder why she worried so much.  It is amazing - I am in that place now.  

Please - I have so much information I can pass on to her, even while she is in limbo, not knowing what the diagnosis will be.  

Now, on the flip side - an ASD isn't a 100% guarantee that the baby will have Ds.  While for Ds, up tp 60% of babies have some sort of heart issue, the ASD can be simply a congenital heart defect outside of Ds.  Heart defects are the most common birth defect in all babies.  So alone and by itself may not mean anything.  I do have a list of other markers which if shown on any of her ultrasounds can make the likelihood of Ds stronger.  Heart defects often signal doctors to move to a higher level of testing or screening for Ds or other chromosomal issues.  If your friend is interested in having a complete list of markers, I can certainly give that to you.  Please feel free to send me a direct message where I can then send you the very comprehensive list of Ds markers, and anything else she would be interested in knowing.  In your message to me, just reference note this post so I recall who you are.  I can also pass ways to contact me, if she wishes to do that for any other questions or concerns she has.  Again, please let me just reiterate, I know exactly how she is feeling - as do many of us here.  We have all been there.  I just hope that she will allow me to pass on my knowledge and information along with references to her.

I hope that I hear back from you - because I know how very important this is, and at this very moment how time sensitive this is.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader
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