Guest guest Posted March 28, 2006 Report Share Posted March 28, 2006 Thank you for allowing me to see her photo, she is a really beautiful little girl. She looks just like a princess. We were told that the Trisomy 21 gene was only on 3 different areas of her DNA and that was a good sign, but could not tell us anymore until she is born. My prayer now is that she stays inside long enough to gain enough weight so that she will be healthy enough to sustain surgery when she is born. --- Darlene Benoit wrote: > Yolonda - > > My Princess has 60/40 where 60% is DS - but as far > as looks go she is a > beautiful little girl (who does wear glasses) - have > you seen the web site - > It is located at > > Just go to http://www.imdsa.com and click the > " general " link and then the > " photos " link > to find it. The user ID is: vktphipps and the > password is mds - is > located on the first page; 5th row from the bottom - > it is her school photo > she is a blond wearing a red shirt with a little > black bow. > > Very few people ever know she has MDS or DS unless I > tell them. The only > person who ever did was a special ed teacher whose > brother had DS. I was > very shocked that she guessed. > > My little princess is very special to me - she loves > to dress up and have > tea. She has blond hair almost down to her bottom, > and green/blue eyes, she > has a wonderful sense of humor and is stubborn as a > mule. (But she gets > that from me) ;-) > > Check out the site and you will see - > > Darlene - Mom to and > > > On 3/28/06, Yolanda > wrote: > > > > I really wish I had not had the amnio because with > the > > MDS result there are so many uncertainties that I > > believe we have more anxiety than most. I think > with > > 2 boys that currently are diagnosed with ADD and > ADHD > > we are more than capable to handle anything we may > > have to face. I guess my main fear is that she > will > > look like she has down syndrome (and I know that > needs > > to be the least of my concern) but knowing how > society > > is and after reading some of the other messages I > know > > that will be a challenge. Please don't > misunderstand > > we are going to lover her regardless, but I know > that > > it is a cruel world out here. So you found out > after > > the test to what percentage she had MDS? > > > > --- Darlene Benoit > wrote: > > > > > Yolanda, > > > > > > No - I had a high triple screen and decided not > to > > > do an amneio as we would > > > accept and love any child and the rate of > miscarrige > > > was as high as the > > > chance of the baby having down syndrome so we > > > decided against it. > > > was induced the day before her due date 2/8 > (since > > > my first one was 9 lbs 2 > > > oz - I wanted her out earlier 2/2 but I did not > like > > > the doctor who was on > > > call that day) and I knew she was bigger than > her > > > brother. But the doctors > > > kept telling me Oh No you haven't gained as much > > > weight with this baby. Now > > > I had preeclampsia with - so Of Course I > did > > > not gain as much weight! > > > When she was born (at 9lbs 4 oz), I asked the > > > doctors if she had Down > > > Syndrome and they told me no, they would know > right > > > away. Well at 4 months > > > another doctor saw her said she had subtle signs > of > > > down syndrome and wanted > > > to wait and see if there were any delays. I > could > > > not just wait and see > > > (not my personality) so I brought back to > our > > > pediatrician and she > > > did a blood test - 6 weeks later we found out > that > > > had MDS. > > > > > > Darlene > > > > > > On 3/28/06, Yolanda < > landy4byron@...> > > > wrote: > > > > > > > > So did you know in advance(before birth) that > > > > > > > had MDS? Did she come early? > > > > > > > > --- Darlene Benoit > > > wrote: > > > > > > > > > Welcome to our group! had a Duodenal > > > Webbing > > > > > which blocked anything > > > > > but liquids. We did not figure it out until > she > > > was > > > > > 3 years old, the > > > > > doctors kept telling us Reflux. You are so > > > lucky > > > > > to know this know. If > > > > > you have any questions please ask. We have > been > > > > > through not all but someone > > > > > in the group most likely could answer most > > > > > questions. > > > > > > > > > > Darlene - Mom to (9) and (7) > > > > > > > > > > On 3/27/06, Kristy Colvin > > > > > > > > wrote: > > > > > > > > > > > > I am sorry to hear that she has this > > > intestinal > > > > > block. I think that it is > > > > > > rather routine for the doctors to repair > that > > > > > though. It is a good thing > > > > > > that they were able to detect it now, so > they > > > can > > > > > be ready for her when she > > > > > > comes. > > > > > > I would be happy to call you on the > phone > > > > > sometime and answer any > > > > > > questions you have about MDS if you like. > Just > > > > > send me your number and when > > > > > > you are available to chat. I know that > right > > > now > > > > > it seems very scary to not > > > > > > know what to expect, but when your > beautiful > > > baby > > > > > makes her appearance in > > > > > > the world, most of those concerns just > melt > > > away! > > > > > > Kristy Colvin > > > > > > IMDSA president > > > > > > www.imdsa.com > > > > > > > > > > > > > > > > > > landy4byron > wrote: > > > > > > I am due June 21. I'm currently 28 wks > preg > > > and > > > > > just found out that > > > > > > she has Duodenal Atrisa (a blockage in her > > > small > > > > > intestine) that will > > > > > > require surgery as soon as she is born. I > > > have so > > > > > many questions > > > > > > that I know can't be answered until she is > > > > > actually born, but because > > > > > > of the diagnoses of Mosaicism, there seem > to > > > be > > > > > more questions out > > > > > > there than concrete answers. > > > > > > > > > > > > > > > > > > > > > > > > --- In MosaicDS , Kristy > Colvin > === message truncated === __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 28, 2006 Report Share Posted March 28, 2006 had that surgery (granted she was older) and she handled it very well. Good Luck Darlene > > Thank you for allowing me to see her photo, she is a > really beautiful little girl. She looks just like a > princess. We were told that the Trisomy 21 gene was > only on 3 different areas of her DNA and that was a > good sign, but could not tell us anymore until she is > born. My prayer now is that she stays inside long > enough to gain enough weight so that she will be > healthy enough to sustain surgery when she is born. > > --- Darlene Benoit wrote: > > > Yolonda - > > > > My Princess has 60/40 where 60% is DS - but as far > > as looks go she is a > > beautiful little girl (who does wear glasses) - have > > you seen the web site - > > It is located at > > > > Just go to http://www.imdsa.com and click the > > " general " link and then the > > " photos " link > > to find it. The user ID is: vktphipps and the > > password is mds - is > > located on the first page; 5th row from the bottom - > > it is her school photo > > she is a blond wearing a red shirt with a little > > black bow. > > > > Very few people ever know she has MDS or DS unless I > > tell them. The only > > person who ever did was a special ed teacher whose > > brother had DS. I was > > very shocked that she guessed. > > > > My little princess is very special to me - she loves > > to dress up and have > > tea. She has blond hair almost down to her bottom, > > and green/blue eyes, she > > has a wonderful sense of humor and is stubborn as a > > mule. (But she gets > > that from me) ;-) > > > > Check out the site and you will see - > > > > Darlene - Mom to and > > > > > > On 3/28/06, Yolanda > > wrote: > > > > > > I really wish I had not had the amnio because with > > the > > > MDS result there are so many uncertainties that I > > > believe we have more anxiety than most. I think > > with > > > 2 boys that currently are diagnosed with ADD and > > ADHD > > > we are more than capable to handle anything we may > > > have to face. I guess my main fear is that she > > will > > > look like she has down syndrome (and I know that > > needs > > > to be the least of my concern) but knowing how > > society > > > is and after reading some of the other messages I > > know > > > that will be a challenge. Please don't > > misunderstand > > > we are going to lover her regardless, but I know > > that > > > it is a cruel world out here. So you found out > > after > > > the test to what percentage she had MDS? > > > > > > --- Darlene Benoit > > wrote: > > > > > > > Yolanda, > > > > > > > > No - I had a high triple screen and decided not > > to > > > > do an amneio as we would > > > > accept and love any child and the rate of > > miscarrige > > > > was as high as the > > > > chance of the baby having down syndrome so we > > > > decided against it. > > > > was induced the day before her due date 2/8 > > (since > > > > my first one was 9 lbs 2 > > > > oz - I wanted her out earlier 2/2 but I did not > > like > > > > the doctor who was on > > > > call that day) and I knew she was bigger than > > her > > > > brother. But the doctors > > > > kept telling me Oh No you haven't gained as much > > > > weight with this baby. Now > > > > I had preeclampsia with - so Of Course I > > did > > > > not gain as much weight! > > > > When she was born (at 9lbs 4 oz), I asked the > > > > doctors if she had Down > > > > Syndrome and they told me no, they would know > > right > > > > away. Well at 4 months > > > > another doctor saw her said she had subtle signs > > of > > > > down syndrome and wanted > > > > to wait and see if there were any delays. I > > could > > > > not just wait and see > > > > (not my personality) so I brought back to > > our > > > > pediatrician and she > > > > did a blood test - 6 weeks later we found out > > that > > > > had MDS. > > > > > > > > Darlene > > > > > > > > On 3/28/06, Yolanda < > > landy4byron@...> > > > > wrote: > > > > > > > > > > So did you know in advance(before birth) that > > > > > > > > > had MDS? Did she come early? > > > > > > > > > > --- Darlene Benoit > > > > wrote: > > > > > > > > > > > Welcome to our group! had a Duodenal > > > > Webbing > > > > > > which blocked anything > > > > > > but liquids. We did not figure it out until > > she > > > > was > > > > > > 3 years old, the > > > > > > doctors kept telling us Reflux. You are so > > > > lucky > > > > > > to know this know. If > > > > > > you have any questions please ask. We have > > been > > > > > > through not all but someone > > > > > > in the group most likely could answer most > > > > > > questions. > > > > > > > > > > > > Darlene - Mom to (9) and (7) > > > > > > > > > > > > On 3/27/06, Kristy Colvin > > > > > > > > > > wrote: > > > > > > > > > > > > > > I am sorry to hear that she has this > > > > intestinal > > > > > > block. I think that it is > > > > > > > rather routine for the doctors to repair > > that > > > > > > though. It is a good thing > > > > > > > that they were able to detect it now, so > > they > > > > can > > > > > > be ready for her when she > > > > > > > comes. > > > > > > > I would be happy to call you on the > > phone > > > > > > sometime and answer any > > > > > > > questions you have about MDS if you like. > > Just > > > > > > send me your number and when > > > > > > > you are available to chat. I know that > > right > > > > now > > > > > > it seems very scary to not > > > > > > > know what to expect, but when your > > beautiful > > > > baby > > > > > > makes her appearance in > > > > > > > the world, most of those concerns just > > melt > > > > away! > > > > > > > Kristy Colvin > > > > > > > IMDSA president > > > > > > > www.imdsa.com > > > > > > > > > > > > > > > > > > > > > landy4byron > > wrote: > > > > > > > I am due June 21. I'm currently 28 wks > > preg > > > > and > > > > > > just found out that > > > > > > > she has Duodenal Atrisa (a blockage in her > > > > small > > > > > > intestine) that will > > > > > > > require surgery as soon as she is born. I > > > > have so > > > > > > many questions > > > > > > > that I know can't be answered until she is > > > > > > actually born, but because > > > > > > > of the diagnoses of Mosaicism, there seem > > to > > > > be > > > > > > more questions out > > > > > > > there than concrete answers. > > > > > > > > > > > > > > > > > > > > > > > > > > > > --- In MosaicDS , Kristy > > Colvin > > > === message truncated === > > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 29, 2006 Report Share Posted March 29, 2006 Thank you for sharing that beautiful story. I can tell that you have plenty strength and courage. I can only hope with whatever we are facing that we have the ability to hold on as well. We are getting excited and have seen so many pictures of her that we can't wait for her to get here. Thanks again. --- Darlene Benoit wrote: > Yolanda & Leanne, > > When was diagnosed with MDS (at 4 months) I > thought my world had just > caved in around my ears. All my hopes and dreams > for my princess were > trashed - college, marriage, grandkids. Then at 6 > months she stopped > breathing due to congestion and ended up in the > hospital for 2 weeks with a > collapsed lung and all kinds of other issues. As I > sat by her bedside, at > first I thought its OK if she dies, my husband and I > would have another > baby, one without MDS - a perfect one. But as time > went by (1 or 2 days in > the hospital) I realized that I did not want another > baby, I wanted this > one, the happy baby who rarely cried, who has a > hearty belly laugh, my > beautiful princess, my perfect daughter who happens > to have MDS. My dreams > weren't trashed - just like any child, who knows if > she will want to go to > college, will find a perfect man (like her daddy) to > marry, will have > children? All my hopes are still there, I may have > to fight a little harder > to make sure she has the opportunities to obtain > them but I am just as > stubborn as my daughter (wonder where she gets that > from) and I will fight > for her because above all my family is my #1 > priority. > > Darlene - Mom to and > > > > On 3/28/06, leanne woehlke > wrote: > > > > Yolanda, > > > > We just had our baby, who was prenatally > diagnosed with MDS. She came > > right on time at 39 weeks, 2 days. > > > > As others have said, once your baby arrives a > lot of the fear is > > gone. You are right, there are many questions and > unfortunately no one can > > answer them. We are just taking it day by day and > letting our daughter lead > > the way. > > > > Leanne > > > > > > > > Yolanda wrote: > > So did you know in advance(before birth) that > > > had MDS? Did she come early? > > > > --- Darlene Benoit > wrote: > > > > > Welcome to our group! had a Duodenal > Webbing > > > which blocked anything > > > but liquids. We did not figure it out until she > was > > > 3 years old, the > > > doctors kept telling us Reflux. You are so > lucky > > > to know this know. If > > > you have any questions please ask. We have been > > > through not all but someone > > > in the group most likely could answer most > > > questions. > > > > > > Darlene - Mom to (9) and (7) > > > > > > On 3/27/06, Kristy Colvin > > > > wrote: > > > > > > > > I am sorry to hear that she has this > intestinal > > > block. I think that it is > > > > rather routine for the doctors to repair that > > > though. It is a good thing > > > > that they were able to detect it now, so they > can > > > be ready for her when she > > > > comes. > > > > I would be happy to call you on the phone > > > sometime and answer any > > > > questions you have about MDS if you like. Just > > > send me your number and when > > > > you are available to chat. I know that right > now > > > it seems very scary to not > > > > know what to expect, but when your beautiful > baby > > > makes her appearance in > > > > the world, most of those concerns just melt > away! > > > > Kristy Colvin > > > > IMDSA president > > > > www.imdsa.com > > > > > > > > > > > > landy4byron wrote: > > > > I am due June 21. I'm currently 28 wks preg > and > > > just found out that > > > > she has Duodenal Atrisa (a blockage in her > small > > > intestine) that will > > > > require surgery as soon as she is born. I > have so > > > many questions > > > > that I know can't be answered until she is > > > actually born, but because > > > > of the diagnoses of Mosaicism, there seem to > be > > > more questions out > > > > there than concrete answers. > > > > > > > > > > > > > > > > > > > > > I have recently been told at 17 wks pregnant > > > that my daughter has > > > > > mosaic down syndrome. Only 1/3 of the cells > have > > > been affected. > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > > Become a member of IMDSA today at > > > http://www.imdsa.com > > > > > > > > > > > ******************************************************* > > > > > Contact IMDSA Today at: > > > > > IMDSA~PO Box > > > > 1052~lin,TX~77856~USA~1-~1-888-MDS- > > > > LINK > > > > > > > > > > > > > > > ********************************************************************* > > > > > Share your story today! > > > http://www.mosaicdownsyndrome.com > > > > > > > > > > > ********************************************************* > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 30, 2006 Report Share Posted March 30, 2006 How do they know the extra chromosome is only in three different areas? Is there some kind of test that tells you that? and (7 months today!!!!!!!! MTDS) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 30, 2006 Report Share Posted March 30, 2006 ... really, the only two tissue types to test are the skin, and the blood....it would be too difficult, and painful, and to some people, unethical, to biopsy different organs to find out... but apparently it's something that they've learned over the years of finally doing some research on MDS. But, for example, there are many here on this board, who's blood came back normal, and only a skin biopsy confirmed the MDS.... ~ANGEL~ Mom to 13, Mosaic Down Syndrome/Hirschsprung's Disease Lance 17, Tyler 14, 11 Jaeda 9 and Shayne 3 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 30, 2006 Report Share Posted March 30, 2006 I was replying to someone else who said their child only had the extra chromosome in 3 areas. I did not understand how they knew this based on exactly what you said. I didn't know if I was missing something. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 31, 2006 Report Share Posted March 31, 2006 Hi , it was me who said that our daughter only had the Trisomy 21 in 3 areas fo the DNA test. I guess the best way to explain is if the child is completely DS then the extra (3rd) chromosome would show up in all strands of the test. But in our case the 21 chromosome showed up in only 3 places. (that is the way it was explained to us.) I hope that explains it...if not can someone help. I'm still learning as well. 29 weeks and growing. JESSICAJEM1977@... wrote: I was replying to someone else who said their child only had the extra chromosome in 3 areas. I did not understand how they knew this based on exactly what you said. I didn't know if I was missing something. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 31, 2006 Report Share Posted March 31, 2006 Tyically the amnio results are expressed in the number of cells in a particular culture with an additional chromosome and then the total number of cells examined. So, it sounds like there may have been cells with the extra chromosome in 3 cultures. Yolanda- you may want to request a copy of the genetics report for your own records. Yolanda wrote: Hi , it was me who said that our daughter only had the Trisomy 21 in 3 areas fo the DNA test. I guess the best way to explain is if the child is completely DS then the extra (3rd) chromosome would show up in all strands of the test. But in our case the 21 chromosome showed up in only 3 places. (that is the way it was explained to us.) I hope that explains it...if not can someone help. I'm still learning as well. 29 weeks and growing. JESSICAJEM1977@... wrote: I was replying to someone else who said their child only had the extra chromosome in 3 areas. I did not understand how they knew this based on exactly what you said. I didn't know if I was missing something. Quote Link to comment Share on other sites More sharing options...
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