Guest guest Posted December 24, 2008 Report Share Posted December 24, 2008 Hi Leigh! Congrats! When Adde was born they tested 20 of her cells. I can't remember to well, but I think that only 8 of them was affected with the extra chromosome, out of the 20 they tested. Where are you guys from? Maybe there's another family here that is from the same area that could recommend a better genetic doctor. ...But I would have more then 5 cells tested. How is his health? My only question is, why did they think mosaic in the first place? Take care, mom to Adde 23 months Subject: Introduction To: MosaicDS Date: Wednesday, December 24, 2008, 12:16 PM Hi, my name is Leigh and my brother and his wife just gave birth Sat. to a beautiful baby boy with DS. At first they told them that is was Mosaic but now are saying it's not. They only tested 5 cells. Is this enough? Also, what does knowing if it is Mosaic or not do? Is this something they should persue and find out for sure? I'm trying to do as much research for them as I can. My sil is only 20 years old. They just don't know where to start. Thanks for any advice. Leigh New Aunt Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 24, 2008 Report Share Posted December 24, 2008 I think because his features are not very pronounced. Unfortunately (for me) they live in Nashville and we are in MS. I have only seen pictures. I am going to go up there in Feb to help them find support and resources. Leigh www.ourquiverfull.blogspot.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 25, 2008 Report Share Posted December 25, 2008 leigh, i just wanted to let you know that i am first of all, laughing so hard right now at your blog. the toilet pic is hilarious....anyone else reading this post should really check out her blog..the kiddos are CUTE.... anyhow, i am currently almost 30 wks preggo, with baby #3 he has been diagnosed with mosaic ds, 24 of 27 cells, i have however been praying which i was not a regular at until this diagnosis. i did have a friend tell me this week that her twins were diagnosed with mosaic ds during pregnancy by amnio. they are 8 years old today and not ONE SINGLE SIGN of ds, except they test positive in the blood. I am not sure how all this works, but my geneticists told me the same thing. that it is possible for that to happen. regardless, i know that we are expecting complications due to his heart, but other than that my dr says everything is looking good. we have also been told that he will now not have to have open heart surgery til after he is 12 lbs. his cystic hygroma is completely gone, and one of the holes in his heart is almost closed. SO PRAYER WORKS.... i hope everyone is having a very happy and blessed holiday season and ill be back online soon. let me know if i can help you find anything as i am doing my own research here in florida Subject: Re: Introduction To: MosaicDS Date: Wednesday, December 24, 2008, 5:32 PM I think because his features are not very pronounced. Unfortunately (for me) they live in Nashville and we are in MS. I have only seen pictures. I am going to go up there in Feb to help them find support and resources. Leigh www.ourquiverfull. blogspot. com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 26, 2008 Report Share Posted December 26, 2008 Hi Leigh, When Vinny was born they didn't even know that he had mds until his 2 month check up and I believe that if I hadn't pointed out that one of his eyes were smaller that the other we still wouldn't know till this day (hes 11 months old). Just make sure they ask alot of questions and NEVER take the docs word for it, I found that most docs have no idea about MDS and they just base their diagnosis on DS especially in Florida. When they did a dna test on Vinny they tested 20 cells and found 13 were affected by DS and that is how they found out about the MDS. Make sure they sign up for anything the state/county offers them, when I found out I jumped right on it, especially SSI/disability and believe it or not he was denied for that, but he has early intervention and physical therapy right now. I believe the earlier you start with these programs your child will get all the help he needs even if he doesn't need them. Vinny was signed up at 3 months and he was right at his age except for the torticolis but now is when he is needing the help. Hes not crawling yet and he just strated trying to feed himself with small food like cheerios. We think he is at a normal 7 month old is some aspects but in others he is right where he should be such as the walker and other actions that a 11 month old should be doing. Sorry when I get started on him I can't stop I guess I'm just a proud mother!!! Anyway, I saw the responce that had given and I would like to know where in Florida she is doing research because if she is close to me I would like to try to meat her. If your out there let me know!!!! Vinny - 11 months > > > Subject: Re: Introduction > To: MosaicDS > Date: Wednesday, December 24, 2008, 5:32 PM > > > > > > > I think because his features are not very pronounced. Unfortunately (for me) they live in Nashville and we are in MS. I have only seen pictures. I am going to go up there in Feb to help them find support and resources. > > Leigh > www.ourquiverfull. blogspot. com > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 27, 2008 Report Share Posted December 27, 2008 FIVE CELLS? Are you kidding me? Tell them they need to demand (yes " demand " , because they will tell them it is not necessary.) FIVE HUNDRED CELL COUNT. With a 500 cell count, there is only a 1% missed mosaicism. > > Hi, my name is Leigh and my brother and his wife just gave birth Sat. > to a beautiful baby boy with DS. At first they told them that is was > Mosaic but now are saying it's not. They only tested 5 cells. Is this > enough? > > Also, what does knowing if it is Mosaic or not do? Is this something > they should persue and find out for sure? I'm trying to do as much > research for them as I can. My sil is only 20 years old. They just > don't know where to start. Thanks for any advice. > > Leigh > New Aunt > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 27, 2008 Report Share Posted December 27, 2008 Hello Leigh, What a good sister you are. My 12 yr old daughter 's diagnosis is not unlike the other families you have heard from. She was diagnosed at 1 - 20 cells tested - 4 were affected. Little ears (which we call her seashells) alerted a new doc - aside from her petite ears, she has one eye that is prone to tearing, very small upper palate (oye the braces), acid reflux. Otherwise, no health implications- 99% of people who are part of our daily lives, have no idea that has a form of DS. The early intervention that the last Mom spoke of is absolutely critical. 's diagnosis also has a huge impact on her education, it makes her eligible for special education. For , her biggest challenge is learning - about 2 years behind her grade level. But we are blessed with an incredible school system and has thrived academicly. It may take her longer to read a book and learning math through practicality, etc.. (A week ago I called home for a measurement for a piece of furniture I was about to pick up. I called home and , completely independenlty reported 50 1/2 " - using a tape measure- I was really proud of her - I am glad I called -the table was 2 inches too short). Getting back to some of your other concerns -- I also recommend seeing a geneticist. There may be specific tests they will run. To this day, has only had her initial diagnosis. We spent many years wondering if we should retest.. For several reasons we left it at that. Our pediatrician immediately contacted a geneticist. Best wishes, Pattie (Mom to 12 and 18) Subject: Re: Introduction To: MosaicDS Date: Friday, December 26, 2008, 9:49 AM Hi Leigh, When Vinny was born they didn't even know that he had mds until his 2 month check up and I believe that if I hadn't pointed out that one of his eyes were smaller that the other we still wouldn't know till this day (hes 11 months old). Just make sure they ask alot of questions and NEVER take the docs word for it, I found that most docs have no idea about MDS and they just base their diagnosis on DS especially in Florida. When they did a dna test on Vinny they tested 20 cells and found 13 were affected by DS and that is how they found out about the MDS. Make sure they sign up for anything the state/county offers them, when I found out I jumped right on it, especially SSI/disability and believe it or not he was denied for that, but he has early intervention and physical therapy right now. I believe the earlier you start with these programs your child will get all the help he needs even if he doesn't need them. Vinny was signed up at 3 months and he was right at his age except for the torticolis but now is when he is needing the help. Hes not crawling yet and he just strated trying to feed himself with small food like cheerios. We think he is at a normal 7 month old is some aspects but in others he is right where he should be such as the walker and other actions that a 11 month old should be doing. Sorry when I get started on him I can't stop I guess I'm just a proud mother!!! Anyway, I saw the responce that had given and I would like to know where in Florida she is doing research because if she is close to me I would like to try to meat her. If your out there let me know!!!! Vinny - 11 months > > From: Leigh <wilsondlp@. ..> > Subject: Re: Introduction > To: MosaicDS@yahoogroup s.com > Date: Wednesday, December 24, 2008, 5:32 PM > > > > > > > I think because his features are not very pronounced. Unfortunately (for me) they live in Nashville and we are in MS. I have only seen pictures. I am going to go up there in Feb to help them find support and resources. > > Leigh > www.ourquiverfull. blogspot. com > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2008 Report Share Posted December 28, 2008 Hi Leigh It is important for them to test more cells to determine what kind of Down syndrome the child has. The reason is mainly because it is the parent's right to know the actual diagnosis. In most cases, if the doctor suspected mosaic Down syndrome in the first place, then that is what it is. In some cases, children with mosaic Down syndrome have a different speech problem than those with Down syndrome, and because of this we are working to get a different system going for babies with MDS to have a specific speech therapy. So, without the actual diagnosis, this could be left untreated until it is much later, thus making the speech delay harder to overcome. Also, in most cases children with MDS meet their developmental milestones at a much faster rate than those with Down syndrome. Because of this, the parent often does not feel comfortable to share their child's milestones with the parents of children with Ds. That is why we have IMDSA--for parents to get the support they need and have a comfortable place to share their joys as well as their concerns. I highly recommend that the parents ask the geneticist for another test with at least 100 cells analyzed. (if not more) This way, they will have a proper diagnosis and know where to go for support. Please ask any questions you or your family have and we will all be happy to answer your questions. Kristy Colvin IMDSA President ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ International Mosaic Down Syndrome Association PH: Toll Free: 1-888-MDS-LINK http://www.imdsa.org http://www.mosaicmoments.today.com Subject: Introduction To: MosaicDS Date: Wednesday, December 24, 2008, 11:16 AM Hi, my name is Leigh and my brother and his wife just gave birth Sat. to a beautiful baby boy with DS. At first they told them that is was Mosaic but now are saying it's not. They only tested 5 cells. Is this enough? Also, what does knowing if it is Mosaic or not do? Is this something they should persue and find out for sure? I'm trying to do as much research for them as I can. My sil is only 20 years old. They just don't know where to start. Thanks for any advice. Leigh New Aunt Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 29, 2008 Report Share Posted December 29, 2008 Kristy, I am curious to hear more about the speech problem differences between MDS and DS. From: & Leigh <wilsondlpyahoo (DOT) com> Subject: Introduction To: MosaicDS@yahoogroup s.com Date: Wednesday, December 24, 2008, 11:16 AM Hi, my name is Leigh and my brother and his wife just gave birth Sat. to a beautiful baby boy with DS. At first they told them that is was Mosaic but now are saying it's not. They only tested 5 cells. Is this enough? Also, what does knowing if it is Mosaic or not do? Is this something they should persue and find out for sure? I'm trying to do as much research for them as I can. My sil is only 20 years old. They just don't know where to start. Thanks for any advice. Leigh New Aunt Quote Link to comment Share on other sites More sharing options...
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