Guest guest Posted March 28, 2008 Report Share Posted March 28, 2008 Hi Everyone We have a new family joining us today. This is what Jodie had to say.. Hi my name is Jodie and my son is . is 18 years old and was just diagnosed with mds on Tuesday of this week. He was diagnosed with Downs the first week he was born. The most recent thing that brought us to this diagnosis so late in life is that he had a chromosome analysis done at the request of a pediurologist that did not think even looked downs. So we had it done and low and behold, 's blood test showed that he had 46 chromosomes, wow, was I that good of a mom that I found the cure to Down Syndrome. No, so we spoke to a geneticist that put it all together for us. Only some cells in show the Trisomy 21 and not all of them do. He does not have strong physical features either and that is why most ppl don't believe he has downs at all. So here we are ready to face another stage in our lives and looking to meet some nice people that know some of the things we live with. I am looking forward to meeting some fresh new people on this matter and share and learn many more things. Welcome to our family Jodie! I am so glad you have joined us! Unfortunately, you are not the first person that this has happened to! When the labs do a karyotype for Down syndrome, they usually only pull 20 cells and look at about 2 of those cells. Because of this, they do not get an accurate reading and usually do not find the mosaicism. We at IMDSA recommend looking at 100 or more cells to get an accurate reading and we are working to eventually make this a standard protocol. So...tell us all about ! And feel free to join our TeenPlus group as well at http://health.groups.yahoo.com/group/IMDSA_TeenPLUS/ I look forward to getting to know you and better. Kristy Mom to Arron 26, 22, Tim 21 MDS, Stevan 20 and Garrett 11 Kristy Colvin IMDSA President ____________________________________________________ International Mosaic Down Syndrome Association PH: 1- Toll Free: 1-888-MDS-LINK www.imdsa.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 28, 2008 Report Share Posted March 28, 2008 Welcome Jodie and . Jodie we are looking forward to hearing all about , now that only after 18 years they were able to diagnosis him correctly. How has done in school? What does enjoy doing? It is so nice to hear from parents that have older children with mds and hear about the accomplishments. Sue Isabella mds 15 months Welcome Jodie and ! Hi Everyone We have a new family joining us today. This is what Jodie had to say.. Hi my name is Jodie and my son is . is 18 years old and was just diagnosed with mds on Tuesday of this week. He was diagnosed with Downs the first week he was born. The most recent thing that brought us to this diagnosis so late in life is that he had a chromosome analysis done at the request of a pediurologist that did not think even looked downs. So we had it done and low and behold, 's blood test showed that he had 46 chromosomes, wow, was I that good of a mom that I found the cure to Down Syndrome. No, so we spoke to a geneticist that put it all together for us. Only some cells in show the Trisomy 21 and not all of them do. He does not have strong physical features either and that is why most ppl don't believe he has downs at all. So here we are ready to face another stage in our lives and looking to meet some nice people that know some of the things we live with. I am looking forward to meeting some fresh new people on this matter and share and learn many more things. Welcome to our family Jodie! I am so glad you have joined us! Unfortunately, you are not the first person that this has happened to! When the labs do a karyotype for Down syndrome, they usually only pull 20 cells and look at about 2 of those cells. Because of this, they do not get an accurate reading and usually do not find the mosaicism. We at IMDSA recommend looking at 100 or more cells to get an accurate reading and we are working to eventually make this a standard protocol. So...tell us all about ! And feel free to join our TeenPlus group as well at http://health. groups.yahoo. com/group/ IMDSA_TeenPLUS/ I look forward to getting to know you and better. Kristy Mom to Arron 26, 22, Tim 21 MDS, Stevan 20 and Garrett 11 Kristy Colvin IMDSA President ____________ _________ _________ _________ _________ ____ International Mosaic Down Syndrome Association PH: 1- Toll Free: 1-888-MDS-LINK www.imdsa.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 28, 2008 Report Share Posted March 28, 2008 Cas, I don't think you ever sleep! LOL It is after midnight at your house now! You must be a night owl. LOL Kristy caspearson wrote: Hi Jodie and welcome I have just joined the group too so am learning heaps already! Looking forward to hearing more of your story... Cas > Hi my name is Jodie and my son is . is 18 years old and was just diagnosed with mds on Tuesday of this week. He was diagnosed with Downs the first week he was born. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 29, 2008 Report Share Posted March 29, 2008 > > " was I that good of a mom that I found the cure to Down Syndrome. " Wow... Would you be one rich lady. LOL. Welcome to the list. Jo Ann mom to ,5,ASD and ,2, MDS > Quote Link to comment Share on other sites More sharing options...
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