Guest guest Posted September 26, 2008 Report Share Posted September 26, 2008 Jenni I am so sorry you are going through all of this. It could very well be that he does not have MDS, but until you get an accurate test you will always wonder. Just give the doctor a call and see what kind of referals you can get. Keep us updated Kristy Randal wrote: That's what I was afraid of. I have been on pins and needles since Monday when the nurse said he had the paperwork on his desk and would be calling. I have been carrying my cellphone in my pocket waiting for his call and now-it was all a waste of time and worry. This is so frustrating. I thought I would feel better once they said everything was fine, but I know that it still may not be the correct diagnosis. The Dr told us at the last appt that he could refer us to Bham if we wanted, so I think we will just do that. The nurse didn't even know what a karyotype was... Thanks- Jenni Re: Re: Welcome ! Hi Yes, it was definately a waste of time! I would asked to be referred to a genetic counselor and then you can get the proper testing done. Demand that 100-500 cells are tested and no less than 100 cells are analyzed. Sorry you went through all this. Hopefully someday soon we can get these tests changed and get a true diagnosis for people. Let us know what happens Kristy Randal wrote: Hi- The Dr just called and said that the tests came back 'normal'. I asked the nurse how many cells were tested. She said they analyzed 22 and karyotyped 5. Was all of this a waste of time? Do I need to push for more to be tested and ask to be referred to a geneticist? I am confused. Thanks- (mom to -11 months) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 26, 2008 Report Share Posted September 26, 2008 Jenni, Welcome to the group! The same thing (about the blood test) happened to me. I asked the Dr. to contact the lab to run a test for MDS on at least 200 cells, and they did. They should have enough sample to do this so it wouldn't hurt to call them back and ask for this test. Mark was diagnosed at 4 weeks b/c of a very observant pediatrician (3 had seen him in the hospital when he was born and they were all shocked by the diagnosis). We have had no health problems with mark and he is right on track except for some slight delay that the PT has worked with him on. He's now running around the house and has about 250 signs that he knows/uses, and is starting to use words more and more. Good luck, and you are in good hands with this group! Gwyn Mommy to mark, 2 MDS. > Jenni > I am so sorry you are going through all of this. It could very well be that > he does not have MDS, but until you get an accurate test you will always > wonder. Just give the doctor a call and see what kind of referals you can > get. Keep us updated > > Kristy > > Randal <r9thomas@... <r9thomas%40bellsouth.net>> wrote: > That's what I was afraid of. I have been on pins and needles since Monday > when the nurse said he had the paperwork on his desk and would be calling. I > have been carrying my cellphone in my pocket waiting for his call and now-it > was all a waste of time and worry. This is so frustrating. I thought I would > feel better once they said everything was fine, but I know that it still may > not be the correct diagnosis. The Dr told us at the last appt that he could > refer us to Bham if we wanted, so I think we will just do that. The nurse > didn't even know what a karyotype was... > Thanks- > Jenni > Re: Re: Welcome ! > > Hi > Yes, it was definately a waste of time! I would asked to be referred to a > genetic counselor and then you can get the proper testing done. Demand that > 100-500 cells are tested and no less than 100 cells are analyzed. Sorry you > went through all this. Hopefully someday soon we can get these tests changed > and get a true diagnosis for people. > Let us know what happens > Kristy > > Randal <r9thomas@... <r9thomas%40bellsouth.net>> wrote: > Hi- > The Dr just called and said that the tests came back 'normal'. I asked the > nurse how many cells were tested. She said they analyzed 22 and karyotyped > 5. Was all of this a waste of time? Do I need to push for more to be tested > and ask to be referred to a geneticist? I am confused. > Thanks- > (mom to -11 months) > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2009 Report Share Posted January 14, 2009 Hi This takes me back to when Tim was 14 years old and came home from school and announced sadly that he felt like he was the only one in the world who had the problems that he had. We talked about that, and the rest of our life on NPR This American Life. If you would like to hear that broadcast you can go to http://www.thislife.org/Radio_Episode.aspx?sched=1265 You and your daughter are not alone! It would be great for your family to come to our conference! Your daughter could meet all the other kids her age with MDS at our Youth Conference (sibs welcome) and you could learn alot from our presenters! 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 Subject: Re: Welcome ! To: MosaicDS Date: Tuesday, January 13, 2009, 9:00 PM Thanks for the welcome. Like Kristy said, I have a 15 year old daughter with mosaic Down syndrome.... However, the type of mosaicism she has is not when you think of when you hear the term. She has some trisomy-21 cells and some that are partial trisomy-21 cells (the extra chromosome is missing the bottom tip, which is the part of the chromosome that is believed to cause the most severe problems in DS). Anyway, when she was born, the geneticist said he'd never seen anything like it and couldn't predict how her unusual mosaicism would affect her. After all these years, we know that her unusual mosaicism functions basically like the " normal " type of mosaicism. She's done very well developmentally and at school. Her reading, writing, and speech are all excellent, but math is kind of a struggle for her. Basically, if she can pass the high school assessment in Algebra, she should graduate with a regular diploma in a few years. (She wants to be a writer when she grows up!) She's gotten to a point in life where she feels like she's in a gray area. She can see that she doesn't fit in with the kids with obvious disabilities at her school. But by the same token, the " normal " kids don't go out of their way to befriend her, because she looks like she has DS and has a few quirks, shall we say. She really wants to meet some other kids with mDS around her age. On a side note, we have one other daughter, age 13, NDA. That's probably enough rambling for a first post! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2009 Report Share Posted January 14, 2009 Hi All, My daughter, is only 7 weeks old, but when we learned of her diagnosis at birth all of the same feelings did and still do concern me. I don't want to be treated differently. That was one of my questions to the group that have older children. Do MDS kids have trouble making friends with " normal " kids, are they able to learn to drive, etc. I am worried that will never marry or be able to have children of her own and that one me and her father are gone she will not have anyone. Kim Mother of (MDS - 7 weeks) From: MosaicDS [mailto:MosaicDS ] On Behalf Of Kristy Colvin Sent: Wednesday, January 14, 2009 12:08 PM To: MosaicDS Subject: Re: Re: Welcome ! Hi This takes me back to when Tim was 14 years old and came home from school and announced sadly that he felt like he was the only one in the world who had the problems that he had. We talked about that, and the rest of our life on NPR This American Life. If you would like to hear that broadcast you can go to http://www.thislife.org/Radio_Episode.aspx?sched=1265 You and your daughter are not alone! It would be great for your family to come to our conference! Your daughter could meet all the other kids her age with MDS at our Youth Conference (sibs welcome) and you could learn alot from our presenters! 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 From: sjstokes75 <sjstokes75@... <mailto:sjstokes75%40verizon.net> > Subject: Re: Welcome ! To: MosaicDS <mailto:MosaicDS%40yahoogroups.com> Date: Tuesday, January 13, 2009, 9:00 PM Thanks for the welcome. Like Kristy said, I have a 15 year old daughter with mosaic Down syndrome.... However, the type of mosaicism she has is not when you think of when you hear the term. She has some trisomy-21 cells and some that are partial trisomy-21 cells (the extra chromosome is missing the bottom tip, which is the part of the chromosome that is believed to cause the most severe problems in DS). Anyway, when she was born, the geneticist said he'd never seen anything like it and couldn't predict how her unusual mosaicism would affect her. After all these years, we know that her unusual mosaicism functions basically like the " normal " type of mosaicism. She's done very well developmentally and at school. Her reading, writing, and speech are all excellent, but math is kind of a struggle for her. Basically, if she can pass the high school assessment in Algebra, she should graduate with a regular diploma in a few years. (She wants to be a writer when she grows up!) She's gotten to a point in life where she feels like she's in a gray area. She can see that she doesn't fit in with the kids with obvious disabilities at her school. But by the same token, the " normal " kids don't go out of their way to befriend her, because she looks like she has DS and has a few quirks, shall we say. She really wants to meet some other kids with mDS around her age. On a side note, we have one other daughter, age 13, NDA. That's probably enough rambling for a first post! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2009 Report Share Posted January 14, 2009 - Where are you located? What is your daughter's name? My daughter, , has MDS but no features, she is very outgoing and social but has difficulty because she does not speak like everyone else (about 70% intelligible) and much less frequent than other girls her age (she will be 10 in 4 weeks). Most of her friends are the girls in school who are VERY talkative (since they have a friend who never interrupts). I hope you are located near us as I would love to tutor your daughter in Algebra - MY FAVORITE subject! My daughter hates math and I find that very distressing as I am going for my PA certification to become a Secondary Math teacher. Darlene - mom to (12) and (9) > Hi > This takes me back to when Tim was 14 years old and came home from school > and announced sadly that he felt like he was the only one in the world who > had the problems that he had. We talked about that, and the rest of our life > on NPR This American Life. If you would like to hear that broadcast you can > go to http://www.thislife.org/Radio_Episode.aspx?sched=1265 > > You and your daughter are not alone! It would be great for your family to > come to our conference! Your daughter could meet all the other kids her age > with MDS at our Youth Conference (sibs welcome) and you could learn alot > from our presenters! > > 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 > > > > From: sjstokes75 <sjstokes75@... <sjstokes75%40verizon.net>> > Subject: Re: Welcome ! > To: MosaicDS <MosaicDS%40yahoogroups.com> > Date: Tuesday, January 13, 2009, 9:00 PM > > Thanks for the welcome. Like Kristy said, I have a 15 year old > > daughter with mosaic Down syndrome.... However, the type of mosaicism > > she has is not when you think of when you hear the term. She has some > > trisomy-21 cells and some that are partial trisomy-21 cells (the > > extra chromosome is missing the bottom tip, which is the part of the > > chromosome that is believed to cause the most severe problems in DS). > > Anyway, when she was born, the geneticist said he'd never seen > > anything like it and couldn't predict how her unusual mosaicism would > > affect her. After all these years, we know that her unusual mosaicism > > functions basically like the " normal " type of mosaicism. She's done > > very well developmentally and at school. Her reading, writing, and > > speech are all excellent, but math is kind of a struggle for her. > > Basically, if she can pass the high school assessment in Algebra, she > > should graduate with a regular diploma in a few years. (She wants to > > be a writer when she grows up!) > > She's gotten to a point in life where she feels like she's in a gray > > area. She can see that she doesn't fit in with the kids with obvious > > disabilities at her school. But by the same token, the " normal " kids > > don't go out of their way to befriend her, because she looks like she > > has DS and has a few quirks, shall we say. She really wants to meet > > some other kids with mDS around her age. > > On a side note, we have one other daughter, age 13, NDA. > > That's probably enough rambling for a first post! > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2009 Report Share Posted January 14, 2009 Hi Kim I think everyone worries about that at first. I know that I did. The thing is, mosaic Down syndrome is extremely versatile. There is no way of knowing how many delays a person can have until they happen. I know several adults with MDS who are married, have children and careers. During our banquet at our conference, one of our adults with MDS will be talking. She is married, has 2 children and is a special education teacher. The other day when I was talking with her on the phone, she said that she is working to change the standardized testing for those in special education to better meet their needs. She does wonderful! Another adult with MDS, who I talk with frequently is married, her husband is blind so she does all the driving, they have a daughter and are expecting their second child in March and they own a restaruant! And, then there is Casey, who is on our egroup here and he also has a beautiful son! Enjoy today and try not to worry about what will happen 20 years from now. There is no way that you can predict the future for anyone. You can only pave the way for the future to be fantastic! 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 From: sjstokes75 <sjstokes75verizon (DOT) net <mailto:sjstokes75% 40verizon. net> > Subject: Re: Welcome ! To: MosaicDS@yahoogroup s.com <mailto:MosaicDS% 40yahoogroups. com> Date: Tuesday, January 13, 2009, 9:00 PM Thanks for the welcome. Like Kristy said, I have a 15 year old daughter with mosaic Down syndrome.... However, the type of mosaicism she has is not when you think of when you hear the term. She has some trisomy-21 cells and some that are partial trisomy-21 cells (the extra chromosome is missing the bottom tip, which is the part of the chromosome that is believed to cause the most severe problems in DS). Anyway, when she was born, the geneticist said he'd never seen anything like it and couldn't predict how her unusual mosaicism would affect her. After all these years, we know that her unusual mosaicism functions basically like the " normal " type of mosaicism. She's done very well developmentally and at school. Her reading, writing, and speech are all excellent, but math is kind of a struggle for her. Basically, if she can pass the high school assessment in Algebra, she should graduate with a regular diploma in a few years. (She wants to be a writer when she grows up!) She's gotten to a point in life where she feels like she's in a gray area. She can see that she doesn't fit in with the kids with obvious disabilities at her school. But by the same token, the " normal " kids don't go out of their way to befriend her, because she looks like she has DS and has a few quirks, shall we say. She really wants to meet some other kids with mDS around her age. On a side note, we have one other daughter, age 13, NDA. That's probably enough rambling for a first post! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2009 Report Share Posted January 14, 2009 Thank you for your encouragement! Kim From: MosaicDS [mailto:MosaicDS ] On Behalf Of Kristy Colvin Sent: Wednesday, January 14, 2009 1:35 PM To: MosaicDS Subject: RE: Re: Welcome ! Hi Kim I think everyone worries about that at first. I know that I did. The thing is, mosaic Down syndrome is extremely versatile. There is no way of knowing how many delays a person can have until they happen. I know several adults with MDS who are married, have children and careers. During our banquet at our conference, one of our adults with MDS will be talking. She is married, has 2 children and is a special education teacher. The other day when I was talking with her on the phone, she said that she is working to change the standardized testing for those in special education to better meet their needs. She does wonderful! Another adult with MDS, who I talk with frequently is married, her husband is blind so she does all the driving, they have a daughter and are expecting their second child in March and they own a restaruant! And, then there is Casey, who is on our egroup here and he also has a beautiful son! Enjoy today and try not to worry about what will happen 20 years from now. There is no way that you can predict the future for anyone. You can only pave the way for the future to be fantastic! 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 From: sjstokes75 <sjstokes75verizon (DOT) net <mailto:sjstokes75% 40verizon. net> > Subject: Re: Welcome ! To: MosaicDS@yahoogroup s.com <mailto:MosaicDS% 40yahoogroups. com> Date: Tuesday, January 13, 2009, 9:00 PM Thanks for the welcome. Like Kristy said, I have a 15 year old daughter with mosaic Down syndrome.... However, the type of mosaicism she has is not when you think of when you hear the term. She has some trisomy-21 cells and some that are partial trisomy-21 cells (the extra chromosome is missing the bottom tip, which is the part of the chromosome that is believed to cause the most severe problems in DS). Anyway, when she was born, the geneticist said he'd never seen anything like it and couldn't predict how her unusual mosaicism would affect her. After all these years, we know that her unusual mosaicism functions basically like the " normal " type of mosaicism. She's done very well developmentally and at school. Her reading, writing, and speech are all excellent, but math is kind of a struggle for her. Basically, if she can pass the high school assessment in Algebra, she should graduate with a regular diploma in a few years. (She wants to be a writer when she grows up!) She's gotten to a point in life where she feels like she's in a gray area. She can see that she doesn't fit in with the kids with obvious disabilities at her school. But by the same token, the " normal " kids don't go out of their way to befriend her, because she looks like she has DS and has a few quirks, shall we say. She really wants to meet some other kids with mDS around her age. On a side note, we have one other daughter, age 13, NDA. That's probably enough rambling for a first post! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 15, 2009 Report Share Posted January 15, 2009 The best friend Molly has is Deaf and blind. Molly is Deaf and does not speak; Keyarra is Deaf and blind and does not speak, but they are the best of buds. They really enjoy each other's company and share a special bond I just cannot explain. A. Special Educator Simon Kenton High School (859)960-0348 cynthia.jones@... " Deaf People Can Do Anything Except Hear! " (I. King Jordan) Confidentiality Notice - This email is intended only for the person to whom it is addressed and may contain confidential information. Any unauthorized review is prohibited. If you are not the intended recipient, kindly contact the sender by reply email and destroy all copies of the original message. If you are the intended recipient, but do not wish to receive communication through this medium, please advise the sender immediately. ________________________________ From: MosaicDS [mailto:MosaicDS ] On Behalf Of Becky Rowe Sent: Thursday, January 15, 2009 7:07 AM To: MosaicDS Subject: Re: Re: Welcome ! Although non-verbal right now, Austin is a " social-butterfly " . He has friends at school that are non-MDS that understand that he doesn't talk and they take great strides in learning sign language to communicate with him, especially the girls LOL Everyone recognizes him from school if we are in Walmart and will go out of their way to say hello to him! This includes the Cafeteria Ladies, Custodians, and their children! There isn't a stranger in Austin's world, everyone is a friend (whether HE realizes they are strangers or not!). All of my older son's friends treat Austin the same as they do Trey, they do make exceptions for certain things and they do understand that Austin does things differently and they are okay with that. Two of Trey's friends that have been in school with Trey since Pre-school days and have watched Austin grow up are more understanding of Austin, than other kids that haven't been around Austin since he was a baby. So don't worry about , she will be fine...usually all it takes is a smile to melt a heart! Blessings Abound, (Becky) Rowe Mom to Trey (8 ADHD) & Austin (6 MDS) ________________________________ Family Assistance Coordinator www.imdsa.org or becky@... <mailto:becky%40imdsa.org> ________________________________ From: Kim Pinsch <kjacobi1@... <mailto:kjacobi1%40sbcglobal.net> > To: MosaicDS <mailto:MosaicDS%40yahoogroups.com> Sent: Wednesday, January 14, 2009 1:16:25 PM Subject: RE: Re: Welcome ! Hi All, My daughter, is only 7 weeks old, but when we learned of her diagnosis at birth all of the same feelings did and still do concern me. I don't want to be treated differently. That was one of my questions to the group that have older children. Do MDS kids have trouble making friends with " normal " kids, are they able to learn to drive, etc. I am worried that will never marry or be able to have children of her own and that one me and her father are gone she will not have anyone. Kim Mother of (MDS - 7 weeks) From: MosaicDS@yahoogroup s.com [mailto:MosaicDS@yahoogroup s.com] On Behalf Of Kristy Colvin Sent: Wednesday, January 14, 2009 12:08 PM To: MosaicDS@yahoogroup s.com Subject: Re: Re: Welcome ! Hi This takes me back to when Tim was 14 years old and came home from school and announced sadly that he felt like he was the only one in the world who had the problems that he had. We talked about that, and the rest of our life on NPR This American Life. If you would like to hear that broadcast you can go to http://www.thislife .org/Radio_ Episode.aspx? sched=1265 You and your daughter are not alone! It would be great for your family to come to our conference! Your daughter could meet all the other kids her age with MDS at our Youth Conference (sibs welcome) and you could learn alot from our presenters! Kristy Colvin IMDSA President ~~~~~~~~~~~~ ~~~~~~~~~ ~~~~~~~~~ ~~~~~~~~~ ~~~~~~~ International Mosaic Down Syndrome Association PH: Toll Free: 1-888-MDS-LINK http://www.imdsa. org http://www.mosaicmo ments.today. com SAVE THE DATE! JULY 10-12 Cincinnati, Ohio, USA BUILDING BRIDGES FOR DOWN SYNDROME RESEARCH & AWARENESS CONFERENCE From: sjstokes75 <sjstokes75verizon (DOT) net <mailto:sjstokes75% 40verizon. net> > Subject: Re: Welcome ! To: MosaicDS@yahoogroup s.com <mailto:MosaicDS% 40yahoogroups. com> Date: Tuesday, January 13, 2009, 9:00 PM Thanks for the welcome. Like Kristy said, I have a 15 year old daughter with mosaic Down syndrome.... However, the type of mosaicism she has is not when you think of when you hear the term. She has some trisomy-21 cells and some that are partial trisomy-21 cells (the extra chromosome is missing the bottom tip, which is the part of the chromosome that is believed to cause the most severe problems in DS). Anyway, when she was born, the geneticist said he'd never seen anything like it and couldn't predict how her unusual mosaicism would affect her. After all these years, we know that her unusual mosaicism functions basically like the " normal " type of mosaicism. She's done very well developmentally and at school. Her reading, writing, and speech are all excellent, but math is kind of a struggle for her. Basically, if she can pass the high school assessment in Algebra, she should graduate with a regular diploma in a few years. (She wants to be a writer when she grows up!) She's gotten to a point in life where she feels like she's in a gray area. She can see that she doesn't fit in with the kids with obvious disabilities at her school. But by the same token, the " normal " kids don't go out of their way to befriend her, because she looks like she has DS and has a few quirks, shall we say. She really wants to meet some other kids with mDS around her age. On a side note, we have one other daughter, age 13, NDA. That's probably enough rambling for a first post! Quote Link to comment Share on other sites More sharing options...
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