Join the Meeting Place for Moms!
Talk to other moms, share advice, and have fun!

(minimum 6 characters)

Genetics results

Posted by on Oct. 15, 2014 at 5:17 PM
  • 13 Replies

I hate to admit it, but I think my husband was right.  

Ever since I found out I was pregnant (unplanned) I wanted to get genetic testing done to see if the baby would have the same chronic epileptic syndrome, Dravet Syndrome, as my 6 year old daughter.  I wanted to know, to prepare, to be able to help her before she has her 1st seizure.   My daughter Amelia met all developmental milestones normally, and then lost every single one of them.  She used to talk and walk, and now she can't.  I vowed to do whatever it took to prevent this baby from losing those skills so quickly.  With Amelia, we had no idea what to do, who to call, anything.  Now we know and I wanted to do it right this time if it turned out the baby had Dravet Syndrome.

We went to meet with the geneticist, perinatologist, and pediatric neurologist today (we all met together, they've been collaborating this entire process).  Now, my biggest regret is taking all the steps we took to get answers.  We had bloodwork and an amniocentesis done, and the doctors compared it to my daughter's genome scan.  They are all 85% certain that the baby does have Dravet Syndrome.  My husband didn't want to know, and now I kinda wish I had listened to him.  All I can think about is my 9 year old son who will have 2 very sick siblings who can barely interact with him.  He's at an age where he knows what all this means, and I don't know how to tell him that this baby will most likely be sick as well like Amelia.

Anyone else have prenatal genetic testing done?  How did you cope with the results?  I don't know what's harder- figuring things out as they happen like we did with Amelia or knowing all of this ahead of time.   

by on Oct. 15, 2014 at 5:17 PM
Add your quick reply below:
You must be a member to reply to this post.
Replies (1-10):
Momof4AEMW
by Gold Member on Oct. 15, 2014 at 6:10 PM
2 moms liked this

I did not.  At one point the doctors suspected down syndrome, and insisted on an amnio, but I declined.  I agree to having as much information early, however there is only one reason to determine downs early in the medical professionals opinion and that is termination that I was not going to consider.  It wasn't like it was a condition that would impact doing in womb surgery or know something for immediate surgery after delivery.  It was an extra chromosome that we wouldn't be able to change, so we waited.  I think waiting or knowing are equally hard when you're in that position.  But in the end I'm glad I didn't know early to then be pressured further to terminate.  She's the best surprise and gift of my life.  And I'd take her 1000 times over, extra chromosome and all!  Hugs!  I hope all turns out ok with your little one and your family.  When are you due? 

jjamom
by Michele on Oct. 15, 2014 at 6:42 PM
1 mom liked this
I had non-invasive genetic testing done, but refused an amnio. I did it because I was 35 and they recommended it. I didn't have any reason to suspect anything would come up, as my other two kids were healthy. I was happy when they told me everything looked great and surprised the night my son was born and they told me he had Down syndrome. But looking back on it, I am glad I didn't know. As mentioned above, they pressure moms to terminate with a DS diagnosis and I am also a worrier. I would have worried myself sick, I think. Instead, I found out the night he was born as I held him in my arms and I knew he was perfect (for me). I actually feel relieved and blessed that I didn't know. But some people like to know so that they can be prepared ahead of time. I think everyone is different. Hugs!
letstalk747
by Ruby Member on Oct. 15, 2014 at 7:02 PM

huggs , we did not do testing

casey_53
by on Oct. 15, 2014 at 7:36 PM
1 mom liked this

I'm 18, almost 19 weeks along... due in March.  My doctors know I wasn't going to terminate, and knew not to bring it up at all (I am so lucky to have found such a great team of doctors).  I wouldn't trade my daughter for anything as well, same goes for this baby.  I don't know what I was thinking wanting to know... this special needs world we live in is such a roller coaster!!!! 

We have an appointment in a few weeks with a fetal development specialist (I swear people just make up titles these days- who would've known such doctor existed), so hopefully that will give us more answers as far as what we can do for precautionary measures.

Quoting Momof4AEMW:

I did not.  At one point the doctors suspected down syndrome, and insisted on an amnio, but I declined.  I agree to having as much information early, however there is only one reason to determine downs early in the medical professionals opinion and that is termination that I was not going to consider.  It wasn't like it was a condition that would impact doing in womb surgery or know something for immediate surgery after delivery.  It was an extra chromosome that we wouldn't be able to change, so we waited.  I think waiting or knowing are equally hard when you're in that position.  But in the end I'm glad I didn't know early to then be pressured further to terminate.  She's the best surprise and gift of my life.  And I'd take her 1000 times over, extra chromosome and all!  Hugs!  I hope all turns out ok with your little one and your family.  When are you due? 


Momof4AEMW
by Gold Member on Oct. 15, 2014 at 8:10 PM
1 mom liked this

I hope that appointment goes well, and you get good information.  Yes, the special needs world is a roller coaster!!  But now you know, so don't need to spend energy worrying about what if, you can just plan for what is.  Good luck!

Quoting casey_53:

I'm 18, almost 19 weeks along... due in March.  My doctors know I wasn't going to terminate, and knew not to bring it up at all (I am so lucky to have found such a great team of doctors).  I wouldn't trade my daughter for anything as well, same goes for this baby.  I don't know what I was thinking wanting to know... this special needs world we live in is such a roller coaster!!!! 

We have an appointment in a few weeks with a fetal development specialist (I swear people just make up titles these days- who would've known such doctor existed), so hopefully that will give us more answers as far as what we can do for precautionary measures.

Quoting Momof4AEMW:

I did not.  At one point the doctors suspected down syndrome, and insisted on an amnio, but I declined.  I agree to having as much information early, however there is only one reason to determine downs early in the medical professionals opinion and that is termination that I was not going to consider.  It wasn't like it was a condition that would impact doing in womb surgery or know something for immediate surgery after delivery.  It was an extra chromosome that we wouldn't be able to change, so we waited.  I think waiting or knowing are equally hard when you're in that position.  But in the end I'm glad I didn't know early to then be pressured further to terminate.  She's the best surprise and gift of my life.  And I'd take her 1000 times over, extra chromosome and all!  Hugs!  I hope all turns out ok with your little one and your family.  When are you due? 



arkansasmama08
by Gold Member on Oct. 15, 2014 at 8:39 PM
1 mom liked this
I'm so sorry mama! Good for you for not even considering termination.

I had the blood work done on a gut feeling with this one, but it all came back fine. Ours have autism and that won't show on those tests anyway.

I know it's hard to deal with, but at least you know and can get things lined up.
MamaLauri
by Silver Member on Oct. 16, 2014 at 3:13 PM

I am so sorry your baby might be sick. Super hugs.

My son has a spina bifida, like my father, along with some other challenges. Spina bifida varies in severity. Had I gotten testing I might have aborted and missed out on my wonderful son. So I am glad I did not.

But all people and DX are different.

ProudMeof2
by on Oct. 16, 2014 at 5:43 PM

I had an amnio done with my son since I was high risk. I got a phone call saying he has Williams Syndrome and we needed to go in right away and discuss it. When we got there, they said they are going to do further testing and will let us know, but then told us all the horrible things that could happen to the baby with Williams Syndrome. In the end, we were told he didn't have it and they apologized for everything they told us. They said his chromosome 7 was just flipped and they tested me and come to find out I also had my chromosome 7 flipped. His neurologist decided to re test everything and come to find out, the amnio sample they tested was mine and not even the baby's. His chromosome 7 was normal and not flipped so them telling us all those horrible things in the beginning was for nothing.

dawncs
by Dawn on Oct. 17, 2014 at 10:49 AM

Congratulations with the genetic testing results. You have to realize that medical research is improving treatments for the disabled each year. Early diagnosis can be the key to making things work in treatments for some diagnoses out there.

Dawn
Beautifully Talanted Asperger Syndrome Writer
Diagnosed Asperger Syndrome as an adult
Diagnosed Edema (since young)
My Author Page

LittleCondon
by on Oct. 17, 2014 at 11:06 PM

When I was pregnant with my sweet Madison they suspected that she would be born with a form of dwarfism based on her measurements in the womb, but it wasn't until she was about 3 months that the diagnosis of Achondroplasia was confirmed. It was a tough situation for our family because none of us had any experience with little people. We had an image of the little girl we would be having and Madison just didn't match that. And despite all of the challenges during that time, after holding our sweet girl for the first time all of the faded. We just pictured her a little smaller. Because of the rarity of this disorder, we weren't conerned in subsequent pregnancies although we would have welcomed any children we were given with open arms. I hope you can overcome the worry and questioning sooner than I did, but if not, I know once you hold that baby any fear will melt away (for all of your family) even knowing the difficulties he or she will face. Love is a powerful thing. And congratulations on welcoming a new little one!

Add your quick reply below:
You must be a member to reply to this post.
Join the Meeting Place for Moms!
Talk to other moms, share advice, and have fun!

(minimum 6 characters)