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Raising Special Needs Kids Raising Special Needs Kids

Possibly Down Syndrome (piog)

Posted by on Feb. 1, 2013 at 8:51 PM
  • 10 Replies

Hi Ladies,  I am looking for some information and can't seem to find it on the internet. Someone in the pregnancy group suggested I ask here.

My brother and his fiancee are pregnant with their second and they have found several abnormalities with their babe. She is about 5 months along and they have discovered a hole in the heart, galbladder on the wrong side, some sort of issue with bowels, and blocked kidneys. The reason they found all these issues is because they saw that the baby had sandal toe which is a soft marker for down sydnrome. They will be going next week to check the babe's chromosomes.  They are both under 30 and don't have any family history of any of this - not sure if that is relevant or not. 

I can look up each individual abnormality, but can't find any information about a baby with all these things. I am really worried and want to offer support and advice to my brother and maybe some hope that the baby will be ok.  

If noone has any information - your prayers for this beautiful young family are greatly appreciated.  

by on Feb. 1, 2013 at 8:51 PM
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Replies (1-10):
momgirlsx2
by Member on Feb. 1, 2013 at 9:13 PM
If you have a childrens rehab center where you are they may have some information or be able to tell you where to find it.
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jjamom
by Michele on Feb. 1, 2013 at 9:15 PM
1 mom liked this
Hi, my son is 7 and has Down syndrome. The first thing I want to say is that he is amazing, a true blessing in my life! If your niece or nephew has DS, everything will be ok, even better from my experience.




The larger space between the big toe and the next is a soft marker for DS, as well as congenital heart defects. My son had two CHDs. The gallbladder thing I have never heard of in connection to DS. With the bowels, there can be something called Hirschprungs disease (you may be able to google Down syndrome and Hirschprungs disease for more info). Some children with DS have this as well (my son did not). Both the CHDs and Hirschprungs have very high success rates with surgery. With the kidneys, I have heard that abnormalities with the kidneys on u/s can also be a soft marker for DS. So, there is a possibility, but there are other things that could explain this as well. A friend of mine had a few of these findings on her u/s. They gave her a 1 in 6 chance that her baby had DS and he doesn't.





In terms of genetics, Down syndrome (Trisomy 21) is a random occurrence. There is only one specific type of DS that can be inherited. It is called Translocation Down Syndrome. Most cases of DS are random.




If you have other questions I might be able to help answer, please feel free to post back here or send me a pm. I would love to help if I can.
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nicki.hemingway
by Nicki on Feb. 1, 2013 at 9:18 PM

I have a few friends who have down syndrme (or as we call them up syndrome kids).  They are very happy and doing so well.  One of my friends was in her early 20's when her special child was born.  Pm me I can put your sister in contact on FB with some of them. 

Crystal_S
by on Feb. 1, 2013 at 9:55 PM


Thanks so much - I don't want to stress them out - If it turns out to be DS for sure I will contact you in the future -thanks again for the support!

Quoting nicki.hemingway:

I have a few friends who have down syndrme (or as we call them up syndrome kids).  They are very happy and doing so well.  One of my friends was in her early 20's when her special child was born.  Pm me I can put your sister in contact on FB with some of them. 



nicki.hemingway
by Nicki on Feb. 1, 2013 at 10:02 PM

She may want to check out this group in the mean time.  They are a great group and they can offer support as you sister goes through all the genetic testing and other tests that will come.  The children have a wide variety of conditions in there so I am sure someone will be able to help you sister irregardless of the final diagnosis. 


https://www.facebook.com/groups/sunnydayz

Quoting Crystal_S:


Thanks so much - I don't want to stress them out - If it turns out to be DS for sure I will contact you in the future -thanks again for the support!

Quoting nicki.hemingway:

I have a few friends who have down syndrme (or as we call them up syndrome kids).  They are very happy and doing so well.  One of my friends was in her early 20's when her special child was born.  Pm me I can put your sister in contact on FB with some of them. 




Please excuse my typos. I baby wear at the computer and I have to type around a bobbing head.


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Crystal_S
by on Feb. 1, 2013 at 10:02 PM

I know they will make it through with love and support if he has DS - I am so hurting for them though because of all the organ issues. Heart, bowels, kidneys :(. I can't imagine having to watch my baby have heart surgery. It breaks my own. And I know they will have trouble financially as it is - I imagine having a special needs baby/child (also so close to their first child) will put alot of stress in this area. 

Thank you so much for your reply and all the information. So with all the things they've found it seems like there are alot of DS markers. How possible do you think it is that all these things could turn out not to be ds? I didn't know they could see all these things with an ultrasound (they first found the toes thing at a routine US and then to a specialty hospital and found the rest of the issues). 

Quoting jjamom:

Hi, my son is 7 and has Down syndrome. The first thing I want to say is that he is amazing, a true blessing in my life! If your niece or nephew has DS, everything will be ok, even better from my experience.




The larger space between the big toe and the next is a soft marker for DS, as well as congenital heart defects. My son had two CHDs. The gallbladder thing I have never heard of in connection to DS. With the bowels, there can be something called Hirschprungs disease (you may be able to google Down syndrome and Hirschprungs disease for more info). Some children with DS have this as well (my son did not). Both the CHDs and Hirschprungs have very high success rates with surgery. With the kidneys, I have heard that abnormalities with the kidneys on u/s can also be a soft marker for DS. So, there is a possibility, but there are other things that could explain this as well. A friend of mine had a few of these findings on her u/s. They gave her a 1 in 6 chance that her baby had DS and he doesn't.





In terms of genetics, Down syndrome (Trisomy 21) is a random occurrence. There is only one specific type of DS that can be inherited. It is called Translocation Down Syndrome. Most cases of DS are random.




If you have other questions I might be able to help answer, please feel free to post back here or send me a pm. I would love to help if I can.



darbyakeep45
by Darby on Feb. 2, 2013 at 8:44 AM

Welcome to the group and hugs mama!

jjamom
by Michele on Feb. 2, 2013 at 1:50 PM
It's hard to really know for sure if the baby has Down syndrome or anything else without having an amnio or until the baby is born. We refused the amino and found out the night my son was born. Then they confirmed it with bloodwork (which took about a week). Even doctors can't really say for sure until either an amnio or the bloodwork post delivery comes in.

I can definitely understand your concern for them having to handle so much. I can say that sometimes things doctors think they see on u/s isn't always what they think it may be. For example, j have heard people worried about the kidneys b/c of shadowing and the babies kidneys are fine in the end. It does sound like they are identifying several organ concerns, which may indicate some type of syndrome.

Have they mentioned short femurs, lack of a nasal bridge (or a flat one), increased fluid or size at the back of the neck (the nuchal fold)? These are three additional markers for DS.

I wish them lots of luck. I hope everything turns out best case scenario for them. The medical concerns, I think are the hardest thing to deal with. The Down syndrome in and of itself, in my honest opinion, is a very manageable challenge and I truly see my son as a huge blessing in my life.

A good website to look at is www.ds-health.com, it is written by a Pediatrician named Len Leshin, who has a son with Down syndrome.


Quoting Crystal_S:

I know they will make it through with love and support if he has DS - I am so hurting for them though because of all the organ issues. Heart, bowels, kidneys :(. I can't imagine having to watch my baby have heart surgery. It breaks my own. And I know they will have trouble financially as it is - I imagine having a special needs baby/child (also so close to their first child) will put alot of stress in this area. 

Thank you so much for your reply and all the information. So with all the things they've found it seems like there are alot of DS markers. How possible do you think it is that all these things could turn out not to be ds? I didn't know they could see all these things with an ultrasound (they first found the toes thing at a routine US and then to a specialty hospital and found the rest of the issues). 


Quoting jjamom:

Hi, my son is 7 and has Down syndrome. The first thing I want to say is that he is amazing, a true blessing in my life! If your niece or nephew has DS, everything will be ok, even better from my experience.





The larger space between the big toe and the next is a soft marker for DS, as well as congenital heart defects. My son had two CHDs. The gallbladder thing I have never heard of in connection to DS. With the bowels, there can be something called Hirschprungs disease (you may be able to google Down syndrome and Hirschprungs disease for more info). Some children with DS have this as well (my son did not). Both the CHDs and Hirschprungs have very high success rates with surgery. With the kidneys, I have heard that abnormalities with the kidneys on u/s can also be a soft marker for DS. So, there is a possibility, but there are other things that could explain this as well. A friend of mine had a few of these findings on her u/s. They gave her a 1 in 6 chance that her baby had DS and he doesn't.






In terms of genetics, Down syndrome (Trisomy 21) is a random occurrence. There is only one specific type of DS that can be inherited. It is called Translocation Down Syndrome. Most cases of DS are random.





If you have other questions I might be able to help answer, please feel free to post back here or send me a pm. I would love to help if I can.





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pegleg63
by on Feb. 2, 2013 at 6:04 PM

This is my grandson Owen, right before he turned three this past October. Owen has Down syndrome. My daughter is his mom, she was just barely 19 years old when she had Owen. Owen was diagnosed with DS before he was born, so we has time  to adjust to the diagnosis. My daughter is married. She and her husband decided no matter what they would raise and love  Owen like any other child. They are awesome parents to Owen and his new little brother Hudson, who is 4 months old, and does not have DS.  Owen was  born with a heart defect, and a clubbed foot. The clubed foot was corrected shorty after birth with a cast on the leg. The one heart defect actually turned out to be three defects, these were corrected when Owen was 22 months old. He does have the sandal toe, smaller ears, small bridge of the nose, etc. The typical characteristics of DS. Owen also has the most precious smile and a excitement for life. Owen started going to school immediately after his third birthday. We relish his accomplishments no matter how small. He is the light of my life. We can't imagine life without him!  There is another group on here called for DS, cafemom.com/group/1152, sorry not sure how to make a link to it.  If the baby does have DS have the parents try to find a local DS support group to meet other parents in the same boat, that helps a lot. I also recommend the book called "Road Map to Holland", subtitle "How I Found My Way Through My Son's First Two Years With Down Syndrome." by Jennifer Graf Groneberg. I wish your brother and his fiance the best of luck no matter how things turn out. I'm more than happy to help in any other way I can if you have more questions.

Crystal_S
by on Feb. 2, 2013 at 6:30 PM

Such an incredibly beautiful smile! He does look like he would light life up. Thank you for sharing and for your kind words.
I don't think they are so much worried about the ds aspect (although they would have to prepare and have lots of support) I know they will love and cherish the babe no matter what. I think the most heartbreaking part is all the organ defects :(. 
They will know on monday and I will give them all the resources I have heard here over time, as not to overwhelm them.
thanks again! 


Quoting pegleg63:



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