Guest guest Posted July 29, 2004 Report Share Posted July 29, 2004 Dear Terrie, As everyone else has said, this is a normal process that most everyone goes through when they get a diagnosis like this. My advise is to cry, and don't hold it in. And, know, that we are here for you. Keep us informed on how you and your family are doing and let us know if there is anything we can do to help you. Things will get better and you will get past this grieving process. Soon, this will just be a memory. Enjoy your granddaughter. And, remember that she is the same little baby that you have loved for the past 6 months before you got this diagnosis. She hasn't changed a bit! She is just as wonderful and beautiful as she always has been! I do have some lititure that I would like to mail to you that I think would be helpful to you and to your family. If you would like, you can privately email me your mailing information and I will happily mail these things out to you. Sincerely, Kristy Colvin IMDSA President imdsapresident@... Terrie Olive wrote: Hello everyone, I am absolutely...positively...horribly overwelmed!!!! We went to the Genetesist today for the first time. I have a most beautiful 6 month old granddaughter who I have been suspecting since birth that she had Downs. Well she has a heart mermer, extremly low muscle tone, the palmers crease on both hands etc.....I know she is who God has intended her to be,but I can't quit crying. I am MADLY in love with " my baby " and if possible I'm gonna love her even more, so why am I so very sad.PLEASE HELP!!! Terrie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 8, 2004 Report Share Posted August 8, 2004 Terrie... The thing about mosaicism, and I'm sure someone else has hit on this...I'll just reitereate... The thing about mosaicism is, that every organ in the body can be affected differently... for instance, my sons blood test came back 50/50 for trisomy 21..so thats how his white blood cells are affected. BUT, his brain could be 100%, and his heart could be 40/60, or his skin could be 10/90...and some organs could have 0% affected cells! So, due to the nature of mosaicism (of any genetic conition, not just trisomy 21) if over time, you felt strongly enough about it, I would push for a skin test to validate the blood test. Many in our group will tell you the blood tests came out negative...and later skin tests came out positive. Good luck! ~ANGEL~ Mom to 11 Mosaic Down Syndrome/Hirschsprung's Disease Lance 16, Tyler 12, 9 Jaeda 8 & Shayne 2 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 8, 2004 Report Share Posted August 8, 2004 Hello to everyone...I was reading over my own email I sent yesterday that stated " I hate all of this " . I apologize to everyone!!!! And let me clear up the fact that " I DO NOT HATE ALL OF THIS " . I am madly in LOVE with my little granddaughter and obviously this is our life and we will deal with whatever it invovles. Blessings to everyone. Terrie Terrie Olive wrote: Hi Kristy, Thank-You so very much for all the help your trying to give me. I don't remember if the Genetics Counselor said 46 cells we're tested or if 46 cells came out okay. I will call him Monday morning and find out. At the time of her blood test I did ask if they could do the blood and the skin test and he said they start with the blood test only. Is that not acceptable? As much as I hate all of this I STRONGLY beleive that my grand daughter has SOMETHING. My main concerns are her health issues right now and thats what we're gonna concentrate on. Blessings. Terrie Kristy Colvin wrote: Terrie, My first question would be to the genetist is How many cells were tested for trisomy 21(at least 50 need to be tested to find MDS) and did they do Blood and Skin? Sometimes, when a person has MDS the affected cells show up in the Blood or in the Skin but not both! So...did they check both? Terrie Olive wrote: Hello to everyone...our test results (6 month old granddaughter) came back negative with Downs. However not only is the Genetesist saying she has a Genentic Condition, she has the palmers crease on both hands, extremely low mucsle tone, the roof of her mouth is higher than it should be not to mention she is developmentally slow. She isnt even rolling over yet, we start Therepy Monday. Has anyone experienced this same type of situation? Or have any idea about other Syndromes? Terrie --------------------------------- Do you Yahoo!? New and Improved Yahoo! Mail - Send 10MB messages! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2004 Report Share Posted August 9, 2004 Terrie, Its called frustration.... we all know it very well..... don't sweat it. ;-) --- Terrie Olive wrote: > > Hello to everyone...I was reading over my own email I sent yesterday > that stated " I hate all of this " . I apologize to everyone!!!! And let > me clear up the fact that " I DO NOT HATE ALL OF THIS " . I am madly in > LOVE with my little granddaughter and obviously this is our life and > we will deal with whatever it invovles. Blessings to everyone. > > Terrie > > > > Terrie Olive wrote: > Hi Kristy, > > Thank-You so very much for all the help your trying to give > me. I don't remember if the Genetics Counselor said 46 cells we're > tested or if 46 cells came out okay. I will call him Monday morning > and find out. At the time of her blood test I did ask if they could > do the blood and the skin test and he said they start with the blood > test only. Is that not acceptable? As much as I hate all of this I > STRONGLY beleive that my grand daughter has SOMETHING. My main > concerns are her health issues right now and thats what we're gonna > concentrate on. Blessings. > > Terrie > > > > Kristy Colvin wrote: Terrie, > My first question would be to the genetist is How many cells were > tested for trisomy 21(at least 50 need to be tested to find MDS) and > did they do Blood and Skin? Sometimes, when a person has MDS the > affected cells show up in the Blood or in the Skin but not both! > So...did they check both? > > Terrie Olive wrote: > Hello to everyone...our test results (6 month old granddaughter) came > back negative with Downs. However not only is the Genetesist saying > she has a Genentic Condition, she has the palmers crease on both > hands, extremely low mucsle tone, the roof of her mouth is higher > than it should be not to mention she is developmentally slow. She > isnt even rolling over yet, we start Therepy Monday. Has anyone > experienced this same type of situation? Or have any idea about other > Syndromes? > > > Terrie > > > > --------------------------------- > Do you Yahoo!? > New and Improved Yahoo! Mail - Send 10MB messages! > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 Terrie, More than likely when the Genetics Counselor referred to the 46 cells, he was refering that all 46 chromosomes were normal. A skin test is VERY important! Especially when the posibility of mosaisim is present. When a person has a mosaic of cells, that means that they only have a percentage of the abnormal cells. Because of this, those cells could be present in only the skin or only the blood, and sometimes they are present in both skin and blood. I would request that he do a cheek scrap as opposed to the invasive skin test. The results will be the same and a cheek scrape only involves rubbing a toothbrush on the inside of the mouth. I have heard where some children were having actual skin removed from the body for the test, and to me, that just sounds too painful! Kristy ps. It's ok to hate all of it! We all do! We know you don't hate your granddaughter, you just hate what she is going through! It will get better! Terrie Olive wrote: Hi Kristy, Thank-You so very much for all the help your trying to give me. I don't remember if the Genetics Counselor said 46 cells we're tested or if 46 cells came out okay. I will call him Monday morning and find out. At the time of her blood test I did ask if they could do the blood and the skin test and he said they start with the blood test only. Is that not acceptable? As much as I hate all of this I STRONGLY beleive that my grand daughter has SOMETHING. My main concerns are her health issues right now and thats what we're gonna concentrate on. Blessings. Terrie Quote Link to comment Share on other sites More sharing options...
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