Guest guest Posted April 27, 2009 Report Share Posted April 27, 2009 Hi Everyone We have a new family joining us today. Here is what Vicki had to say... My name is Vicki and my daughter's name is Abby. She has received genetic testing for D.S., which was negative. She had a 25 count FISH test which came back negative for MDS. Now they are suggesting a skin biopsy. She has developmental delays and physical features of DS (so much that families living with DS approach me and start conversations on the subject). I am looking for someone who had to do extra tests to get a confirmed diagnosis. I thought for a while living with no diagnosis would be okay, but insurance problems have popped up, need of services issues have popped up and health questions. Welcome to our family Vicki. I am glad you have joined us! We do have many families who have had to have this skin biopsy to get the diagnosis. There are instances where the extra chromosomes only show up in one cell line (skin or blood) It is always important to get a diagnosis so your doctors can follow the healthcare guidelines for those with Down syndrome and mosaic Down syndrome. This will keep your child healthy and without the diagnosis, they will not know what to look for. Please tell us all about Abby and feel free to ask any questions you have. We will all be very happy to share our experiences and information with you. Kristy-Mom to Arron 27, 24, Tim 22 MDS, Stevan 22, and Garrett 13-Today! 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 SAVE THE DATE! JULY 10-12 Cincinnati, Ohio, USA BUILDING BRIDGES FOR DOWN SYNDROME RESEARCH & AWARENESS CONFERENCE Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 27, 2009 Report Share Posted April 27, 2009 Hello Vicki - How old is Abby? You should have the diagnosis, just for your peace of mind. Please have her heart looked at as was dx'd late and she had seen doctors countless of times and been in the hospital many times - no one said she had any problem with her heart. When she was 8, she told me her heart hurt and since my daughter was not very verbal at the time I listened and got her in to see a cardiologist - they found out she had THREE holes in her heart. The largest one had closed on it's own, one was just a pin prick hole but the other one was very dangerous - so she had surgery to fix her heart at 8! The holes in her heart may have been the reason for her weight issues (as it would sap her energy), it could also be the reason she was a couch potato. Since she has had it fixed she is losing weight and VERY active. Darlene - Mom to (12) and (10) > > > Hi Everyone > We have a new family joining us today. Here is what Vicki had to say... > > My name is Vicki and my daughter's name is Abby. She has received > genetic testing for D.S., which was negative. She had a 25 count FISH > test which came back negative for MDS. Now they are suggesting a skin > biopsy. She has developmental delays and physical features of DS (so > much that families living with DS approach me and start conversations > on the subject). I am looking for someone who had to do extra tests to > get a confirmed diagnosis. I thought for a while living with no > diagnosis would be okay, but insurance problems have popped up, need of > services issues have popped up and health questions. > > Welcome to our family Vicki. I am glad you have joined us! We do have many > families who have had to have this skin biopsy to get the diagnosis. There > are instances where the extra chromosomes only show up in one cell line > (skin or blood) It is always important to get a diagnosis so your doctors > can follow the healthcare guidelines for those with Down syndrome and mosaic > Down syndrome. This will keep your child healthy and without the diagnosis, > they will not know what to look for. > > Please tell us all about Abby and feel free to ask any questions you have. > We will all be very happy to share our experiences and information with you. > > Kristy-Mom to Arron 27, 24, Tim 22 MDS, Stevan 22, and Garrett > 13-Today! > > 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 > SAVE THE DATE! JULY 10-12 Cincinnati, Ohio, USA > BUILDING BRIDGES FOR DOWN SYNDROME > RESEARCH & AWARENESS CONFERENCE > > Quote Link to comment Share on other sites More sharing options...
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