Guest guest Posted September 3, 2008 Report Share Posted September 3, 2008 Hi Jenni Your doctor can order the blood work. Depending on what your doctor's office is capable of doing, they could do it in the office, or you may need to go to a lab. But the doctor will have to make the order for the test. But before you talk with your doctor, here is some important info to take along. 1st: Because people with MDS have a percentage of cells with the extra 21st chromosome and the remaining cells are unaffected, it is very important that the doctor tests more than the standard 20 cells. In a lot of cases, the affected or unaffected cells are not discovered with this small amount of cells tested. So, we recommend that 100-500 cells be tested. This will give you a better chance of seeing the extra chromosome if it is there. 2nd: In some cases, an individual with MDS only has the affected cells located in the skin. Some labs will take a cheek swab for this test while other prefer to deaden an area and take a small sample of skin from behind the ear or on the thigh. If a blood test does not reveal the extra chromosomes we recommend that a skin test is done. 3rd: The average age for individuals to be diagnosed with MDS is 1-4 yrs. However, because of IMDSA's efforts in educating the public on MDS, these numbers are changing and now more babies are being diagnosed at birth or soon after. The reason for the misdiagnosis is usually the lack of characteristics associated with Down syndrome and the lack of education in the medical community. Just this week one of our new family's child was diagnosed at 7 yrs old. So... this isn't impossible for your child to have MDS. But often times the doctor will just know about Down syndrome and not understand the faint characteristics. I hope some of this helps. If you have other questions just ask away! Kristy Randal wrote: Does the dr do the bloodwork or would I have to go to a specialist? Thanks- Jenni Re: Welcome ! To: MosaicDS Date: Tuesday, September 2, 2008, 4:07 PM Thankyou for the welcome. A little bit of history...My last pregnancy before this child ended at 18 weeks. The baby had several things wrong with her. It was either Trisomy 18 or 's. We never found out for sure. When was born last October, I could not get him to nurse in the hospital. He would turn away like he didn't even want to try. I have nursed all of my children for one year, so I felt like he should catch on pretty quick..BUT he didn't. I cried over and over and the drs thought if I got home in my own environment, things would go more smoothly. He was loosing weight, but I was not going to give in and give him the bottle. So, After a few weeks, he caught on. Other things I noticed different (compared to my other children) from the beginning. When I would go to pick him off the changing table, he was kind of floppy. I just compensated and would push in around his chest to lift him instead of directly under his arms. My mom told me she thought it was strange that he didn't look at our hairlines like most babies, but he looked beyond our faces into the ceiling. Anyway...around 4 months old, I tried to introduce him to juice. He didn't want anything to do with it. 5 months old-he rolled over from front to back a few times(I figured he was on track because of this). He never would roll from his back to front. Ard 6 months, I tried baby food and he would have nothing to do with it. so I waited and tried over and over again. Finally, ard 7 months, he started eating baby food. I was talking to a friend about a month ago and her baby was younger than mine and was eating cheerios! I thought then that he was definitely behind. Anytime I give him a piece of rice or anything small, he would gag and spit up all (usually 2 jars) of baby food.He sat up really late compared to average children. He still wasn't crawling at 9 months, so I started thinking maybe all of these things were related. I made an appt with the dr and right before we went it at 10 months, he started rolling from his back to front and crawling! I went ahead and took him. He said that he had the 'whatever' fold in his eye, but he didn't have a crease in his hands. He said that the pediatrician would know more about syndromes and could make a better diagnosis if he indeed had something going on. So, when I came home, I started researching and it seems that he may have MDS I am waiting for the Dr to call me back for an appt and I am going nuts! I have cried a little, because I don't want anything to be wrong. I can handle having a special needs child, I just don't want him to have health issues. He is the sweetest, happiest baby (he wasn't the first few months) and we all love him dearly. HE is spoiled rotten! Other things that I can look back and wonder about... When he was born, his neck was thick with extra skin. Both me and my husband noticed it, but it disappeared in few weeks or so. He wiggles his hands (like crazy) if he is sitting still (kinda strange) He had hiccups all the time! I asked the dr if it could be reflux and he said no. He had them all day and night. Well, anyway, any advice that you might have would be welcome-advice for me or questions I might ask the dr. Thanks so much- > > Welcome to our family . I am so glad you have joined us. Please tell us more about your son. What other things (if any) lead you to think he has MDS? > Please feel free to ask any questions you have here. We will all be happy to share our experiences. > > Kristy > Mom to Arron 26, 23, Tim 22 MDS, Stevan 21 and Garrett 12 > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 25, 2008 Report Share Posted September 25, 2008 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 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 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 October 4, 2008 Report Share Posted October 4, 2008 Well first of all, I want to tell that my son became 10 times cuter with his glasses ( he is farsighted and recieved them at 10 months) his eye muscles have already started to improve 6 months later. Second, I was told by the optomologist that the eye glasses would be designed for his face shape, and they did some measurements at the eyeglass place, but when we recieved the glasses we DID have problems with the nose bridge area not fitting correctly and I had to modify this part myself to fit my son, Im not sure if it was the factories ignorance or the eyeglass place we ordered at. So my advice would be to be FIRM about them fitting correctly if your child needs these adjustments. Marriah From: Kristy Colvin <kristyimdsa (DOT) org> Subject: Welcome ! To: mosaicds@yahoogroup s.com Date: Sunday, September 28, 2008, 7:55 PM Hi Everyone! We have a new family joining us today. Here is what had to say... My name is Wheeler..my husband and I had a baby girl on June 3, 2008 and she was diagnosed with Mosaic Down Syndrome. Her name is Kayla Marie and she is just the most wonderful and beautiful baby!! Kayla was diagnosed shorlty after birth with three minor heart defects. At this time we are just watching her heart and the doctor feels that she wont have to have any kind of surgery. We had her eyes checked and it appears that she is alreday near sighted and might have to have glasses in January. She has an older brother who is 17(Kayla is my second and my husband's first)and he just adores his baby sister. We are members of the Down Syndrome Association of Central Ohio but I have just not found much information about Mosaic and would like to be able to ask questions and maybe get some help from others. Welcome to our family ! I am so glad you have joined us! Congratulations on your new baby! We are coming to Ohio for our 2009 Research & Awareness conference this coming July! Hopefully we will all get to meet you and your family then! Please feel free to ask any questions you have here. We will all be very happy to share our experiences with you. And, feel free to share any concerns and joys you have with Kayla. We are here for you and your family and will always be here to help you. Kristy Mom to Arron 26, 23, Tim 22 MDS, Stevan 21 and Garrett 12 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 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 4, 2008 Report Share Posted October 4, 2008 Good for you , Im happy to see teachers taking an interest into learning all they can about their students that experience dissabilities. This makes me feel good and confident for when my son reaches school age that there are teachers like you! Any question in this group, and you are sure to find at least one wonderful answer or peice of advice! Marriah, Gideons mom (16 months) Subject: Welcome ! To: mosaicds Date: Sunday, September 28, 2008, 1:55 PM Hi Everyone We have a new teacher joining us today. Here is what had to say... I teach for Richmond Public Schools in a MR Adaptive Class. I have students with autism, mental retardation, (in past with down syndrome), one with apraxia, and possible mosaic. Welcome to our family ! I am so glad you have joined us! We have quite a few teachers and other professionals here, and it is always a great thing when we have others joining us! Please feel free to ask any questions you may have. We will all be happy to share our experiences with you! Kristy Mom to Arron 26, 23, Tim 22 MDS, Stevan 21 and Garrett 12 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 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 10, 2008 Report Share Posted October 10, 2008 Hi Everyone We have a new family joining us today! Here is what had to say... I am a mother of four children. My two year old son is going for genetic testing because mosaic down syndrome is suspected. Thank you in advance, Montgomery Welcome to our family ! I am so glad you joined us! Please tell us all about your son. How old is he? Why is it suspected that he has MDS? When is your appointment for the genetic testing? Please feel free to ask any questions you may have. We will all be very happy to share our experiences with you! Kristy Mom to Arron 26, 23, Tim 22 MDS, Stevan 21 and Garrett 12 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 Quote Link to comment Share on other sites More sharing options...
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