My baby has a chromosonal defect? She's HERE & HEALTHY! Post 355!!!

[disfanatiks]

I will be praying for you and your family. May God surround your family during this season of testing and in the months to come and give you peace in all of your decisions.

Teri

 

[mickeysgal]

My very best wishes to you.

 

[ckret01]

Your strength is truly amazing. My prayers are with you!

 

[raysnkaysmom]

In the end things will work out the way the work out.

We had a false positive for Trisomy 18 on our first. That was scary. We went to a level 2 ultra sound in Boston and there found it was false.

On our 2nd, they found "markers" (shorter leg and arm bones, enlargement in the back of the neck) and sent us for another level 2 ultra sound in Boston. The Dr there was sure it was Down syndrome. We then did another level 2 ultra sound with our Dr's specialist and he suggest an amnio to test for chromosomes. DW wanted to have answers one way or the other. We got the fish test back in a few days and there was an extra chromosome. She would be born with Down syndrome. Ok cool. Now we know. That was 4 years ago. M-E will turn 4 in November and she is right now a "typical" 3 year old. She has 47 healthy chromosomes. Its just that that 1 extra 21st chromosome makes some things a little harder for her. It effects every peson differently.

Because of her, we have met and become friends with a number of families we never would have run into.

Remember, everyone has issues. Some kids have to get braces, some kids have to wear glasses. Some kids are dyslexic. Some kids studder. Some have sensitivity issues. Some develop alergies. Some have an extra chromosome.

"Whats an extra chromosome between friends"

The power of positive thinking goes a long way.

Just curious.....the false positive....was that something BEFORE amnio or CVS? Because I'm under the impression amnios and CVS can't give a false positive on the pull of chromosones...The only thing it can miss is a heart defect. Trisomy 18, from what I"ve read is something I don't know I could handle.... I feel that's not even living a life... The rest, I can do (I think)...

 

[mom2grace]

Just curious.....the false positive....was that something BEFORE amnio or CVS? Because I'm under the impression amnios and CVS can't give a false positive on the pull of chromosones...The only thing it can miss is a heart defect. Trisomy 18, from what I"ve read is something I don't know I could handle.... I feel that's not even living a life... The rest, I can do (I think)...

With amnio, and I assume CVS, a live person actually does a karyotype, they read each set of chromosomes. This should be 100% accurate.

How does your baby's heart look on ultrasound? Many babies with DS have heart issues that can be seen on ultrasound.

 

[raysnkaysmom]

With amnio, and I assume CVS, a live person actually does a karyotype, they read each set of chromosomes. This should be 100% accurate.

How does your baby's heart look on ultrasound? Many babies with DS have heart issues that can be seen on ultrasound.

The heartrate is good...between 165-175... but they said it is too early, being between 11 and 12 weeks to get a good view of the heart. They said it'll be about another 3-4 weeks before they can see the chambers of the heart...

 

[java]

I have been in those worry shoes and I wanted to just pass along another hug.
So when is the CVS? My doctor friend had that - she HAD to know. And said it was a great early chromosomal reading.
Thinking of you and praying for the best!

 

[Elise79]

The heartrate is good...between 165-175... but they said it is too early, being between 11 and 12 weeks to get a good view of the heart. They said it'll be about another 3-4 weeks before they can see the chambers of the heart...

I had a CVS with my DD last December so I know how you are feeling. I needed to KNOW ASAP what I was dealing with as a couple of the Trisomy defects I just knew I didn't want to deal with (the life reducing ones).

We choose the CVS as it could be done earlier and you get preliminary results in 48 hours (I am in the UK but assume it is the same for you)

The results of the CVS gave us the all clear for the chromosome deflects and we went back at 20 weeks for a detailed heart scan and that came back clear.

BTW I went into this after my nuchal scan with a 1:64 chance of a downs baby.

I hope everything works out for you

 

[raysnkaysmom]

My CVS is scheduled for Wed morning...but they just called and asked me to call back after 2pm because they want to schedule it for tomorrow now I've altered my work schedule so much, and thats just another added stress. She said the machine they need will not be at a particular office and they need to get the tissue on a plane to CA as quick as possible.
But...I wont be able to get my results in 48hrs.. I wish. I was told 10-12 days.

 

[FloraFauna]

I have been thinking about you and praying for you and your family.

 

[luvflorida]

In the end things will work out the way the work out.

We had a false positive for Trisomy 18 on our first. That was scary. We went to a level 2 ultra sound in Boston and there found it was false.

On our 2nd, they found "markers" (shorter leg and arm bones, enlargement in the back of the neck) and sent us for another level 2 ultra sound in Boston. The Dr there was sure it was Down syndrome. We then did another level 2 ultra sound with our Dr's specialist and he suggest an amnio to test for chromosomes. DW wanted to have answers one way or the other. We got the fish test back in a few days and there was an extra chromosome. She would be born with Down syndrome. Ok cool. Now we know. That was 4 years ago. M-E will turn 4 in November and she is right now a "typical" 3 year old. She has 47 healthy chromosomes. Its just that that 1 extra 21st chromosome makes some things a little harder for her. It effects every peson differently.

Because of her, we have met and become friends with a number of families we never would have run into.

Remember, everyone has issues. Some kids have to get braces, some kids have to wear glasses. Some kids are dyslexic. Some kids studder. Some have sensitivity issues. Some develop alergies. Some have an extra chromosome.

"Whats an extra chromosome between friends"

The power of positive thinking goes a long way.

I just wanted to say that I love this post!! What a positive, upbeat way to look at things, and it's so true!!

To the OP: My prayers and good thoughts are with you. I can't imagine what you are going through. Keep strong and stay positive.

 

[alizesmom]

I'm glad you're doing the CVS. I feel like I keep telling you negative stuff but you need to realize that a normal chromosome study does not neccessarily mean a normal baby. There are many as-yet undiagnosed genetic problems in existance where they haven't found the gene mutation. My 3yr old daughter has had many tests done and we still don't have a diagnosis for why she has so many problems. You will however be able to safely say that your baby does or doesn't have many of the more familiar syndromes. Hugs Karen

 

[handicap18]

Just curious.....the false positive....was that something BEFORE amnio or CVS? Because I'm under the impression amnios and CVS can't give a false positive on the pull of chromosones...The only thing it can miss is a heart defect. Trisomy 18, from what I"ve read is something I don't know I could handle.... I feel that's not even living a life... The rest, I can do (I think)...

The false positive was before the amnio. It was from one of those other tests, I don't recall which name it has. We actually didn't do an amnio on our first. Trisomy 13 and Trisomy 18 aren't good. Even if the pregnancy goes to full term and the baby is born, they have almost no chance to survive a few weeks, in some cases longer, but it isn't a good life at all. I remember watching an episode of "ER" a few years back and a couple went into the ER with a baby, quite a few months old, that had Trisomy 18 and they ended up leaving it there.

Trisomy 21 on the other hand, while it can have its issues, is ALOT different. Our DD was found to have a heart issue while we did the level 2 ultrasound. That was at 20 weeks IIRC. By the time we were able to get an appointment at Children's Hospital in Boston with the cardiac specialist around 26 weeks, the heart issue had cleared up on its own. We were in there for 45 minutes and they found nothing wrong with her heart.

There are issues you have to deal with with Trisomy 21. Heart is one. We know quite a few families that went through that (all are doing perfectly fine now), gastro-intestinal can be an issue (we're lucky, our DD only has acid reflux for which she takes Pepcid), hypotonia (low muscle tone) is in nearly every Trisomy 21 case. This is what causes their tongue to hang out (which goes away as they get older and stronger) and delays in crawling and walking. Speech is the other big delay. DD will be 4 in Nov and DS who just turned 2 speaks better, but on the Down chart, DD is doing great. She can communicate fine and understands everything (!!!!!!!!!!). She knows over 100 signs and as she learns the word she drops the sign. Sometimes though we haven't figured out her word!! LOL

Is it easy? I don't know. Is raising any kid easy? Oldest DS who has 46 chromosomes has eating sensitivity issues and he also has acid reflux. I grew up needing to wear glasses. DW grew up with all kind of allergies (food and sinus). My mother has a brother and a sister who were born with hearing issues (not considered deaf, but very low hearing).

So like I said, everyone has something. Some people "something" can be more difficult at times than others. You deal with it and move on.

 

[Mickeyistheman]

I wanted to come on and wish you luck and prayers.

Very good friends of mine, found out they were pregnant and then had some testing done and found out that the baby had Spinah Bifida (not sure of the spelling)

They were upset and the Dr's did scare them. The mom was on pretty much complete bedrest etc.

Well the beautiful baby boy was born and guess what...he is fine, it was a false positive (they had the test done twice and it came back wrong twice!!)

God will be with you and give you the guidance and strength you need. Sometimes if you read too much you get stressed AND then the baby gets stressed.

Take a few deep breaths and wait to see what will happen.

Good Luck to you and your family.

 

[raysnkaysmom]

I wanted to come on and wish you luck and prayers.

Very good friends of mine, found out they were pregnant and then had some testing done and found out that the baby had Spinah Bifida (not sure of the spelling)

They were upset and the Dr's did scare them. The mom was on pretty much complete bedrest etc.

Well the beautiful baby boy was born and guess what...he is fine, it was a false positive (they had the test done twice and it came back wrong twice!!)

God will be with you and give you the guidance and strength you need. Sometimes if you read too much you get stressed AND then the baby gets stressed.

Take a few deep breaths and wait to see what will happen.

Good Luck to you and your family.

Each day...I'm adapting more to the possibilities... I'm not too stressed, considering. On my drive home tonight...if it's not too much to say, I patted myself on the back. I'm doing much better than I think I could be. Of course, after this test...and my results... it'll be another shock to the system.... but I'll get to where I need to be..

Thank you so much everyone... still

 

[bsnyder]

Each day...I'm adapting more to the possibilities... I'm not too stressed, considering. On my drive home tonight...if it's not too much to say, I patted myself on the back. I'm doing much better than I think I could be. Of course, after this test...and my results... it'll be another shock to the system.... but I'll get to where I need to be..

Thank you so much everyone... still

Still saying prayers for you. And you deserve that pat on the back, and more!

 

[TLSnell1981]

You need to make a list of a least a dozen indulgences. Anything and everything from.....a hot fudge sundae to a mommy massage. Pamper yourself and remember your disfriends are praying for you. You don't have to be strong all on your own.

 

[robinb]

... remember your disfriends are praying for you. You don't have to be strong all on your own.

That is one of the nicest things I have ever read here on the DIS. Best yet, it's true. We're all pulling for you and your baby. {{hugs}} and good luck tomorrow.

 

[SereneOne]

Prayers for you and your little one, hon.

I have a daughter that has VATERS Association, it is an acronym for multiple birth defects. I found out when I was pregnant that her and her twin had it. If you need someone to listen and empathize and also share the blessings of a special needs child, I am here for you.

 

[raysnkaysmom]

Prayers for you and your little one, hon.

I have a daughter that has VATERS Association, it is an acronym for multiple birth defects. I found out when I was pregnant that her and her twin had it. If you need someone to listen and empathize and also share the blessings of a special needs child, I am here for you.

This may seem shallow...and part of me feels guilty for even thinking so far ahead... but hoped DISers would understand...
We have already planned our trip to Disney at the end of May. We figured the baby would be about 6 weeks (Ive heard babies are easy at Disney...lol.. Really, all my babies have been easy..until they hit 8...LOL) Of course, now, not sure if the baby will be premature or what...but my question... How hard is it to take a special needs child to WDW? Depending on the issue, of course, but I've heard whether Downs babies, or some other...babies are still the same with not many different needs...
SereneOne...I saw you have taken several trips, if prepared, it's gotta be totally worth it , right?
Anyone else have any insight for me?

And...again.. thank you to everyone.
I'm still waiting on the last bit of info today on my bloodwork.. If by that 1% chance it comes back normal, I'm holding off on tomorrows CVS, will monitor the ultrasounds for a few weeks, then if they continue to show abnormal, I'll do the amnio at 15-16......