Guest guest Posted April 2, 2002 Report Share Posted April 2, 2002 Randy, I would very much suggest that you insist on another test. Not only blood this time, but a cheek swab as well. Sometimes the 'normal' cells and ds cells are in different places of the body. I would have to agree with you that if your baby is getting to all his milestones on time, there is a possibility that he may have mds. They may have missed it in the second blood test because the cells were in a different place. Now you may have to insist on this! Many doctors will try to intimadate you and say, what does it matter? And, We already did the test, it is not nessasary! So, just tell them that it does matter and it is nessasary and it is your child and you have a right to know his diagnoses for sure! (lol can you tell I have had problems with doctors?) Let us know how it turns out. Kristy --- traylor1 wrote: > My son was born in November and was diagnosed with > Mosaic > DS. The hospital re-did the tests and they > confrimed the > diagnosis. > > However, we wanted a geneticist to look at the test > and give us > the diagnosis. They had more blood drawn and when > we visited > the doctor, they informed us that Caleb did not have > Mosaic DS. > They tested 50 cells and all 50 showed the DS. > Rather than 1 > out of 10 when he was first born. > > As he has grown, he seems to be developing fine. In > fact he is > hitting some of his developmental milestones > (smiling, laughing > and in particular rolling over) at an earlier age > than his brother > did and other kids who were even born before him. > > OK, so here is where the advice is needed. We know > he has > DS, the signs are there although they are mild. But > what I am > curious about is since he seems to be hitting his > developmental > milestones, should we question the second set of > tests. > > Personally I can see him being a mosaic, but I also > am not a > doctor. Anyone care to share any personal stories > which might > enlighten us? > > Thanks > > Randy > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 2, 2002 Report Share Posted April 2, 2002 Dear Randy, I think that because Caleb has had several tests done, and they conflict, you have every reason to question. Your child's development sounds like he does not have 100% effected cells. I think it is becoming clear that our children each could have multiple tests done and perhaps each test would result in a slightly or even more than slightly different count of cells or final diagnosis where MDS versus DS is concerned. The really wonderful thing is that regardless of what it takes to come to an ultimate conclusion about his true diagnosis, he is thriving wonderfully in the meantime. Caleb does not care what any old doctor has to say, he is pressing forward and accepting all the wonderful blessings God has for him, "Pressed down, shaken together, and running over"! Best Wishes to You! Barb Martz Mom to Jonas (MDS) 17 mo & nearly 7 Advice? My son was born in November and was diagnosed with MosaicDS. The hospital re-did the tests and they confrimed thediagnosis.However, we wanted a geneticist to look at the test and give usthe diagnosis. They had more blood drawn and when we visitedthe doctor, they informed us that Caleb did not have Mosaic DS.They tested 50 cells and all 50 showed the DS. Rather than 1out of 10 when he was first born.As he has grown, he seems to be developing fine. In fact he ishitting some of his developmental milestones (smiling, laughingand in particular rolling over) at an earlier age than his brotherdid and other kids who were even born before him.OK, so here is where the advice is needed. We know he hasDS, the signs are there although they are mild. But what I amcurious about is since he seems to be hitting his developmentalmilestones, should we question the second set of tests.Personally I can see him being a mosaic, but I also am not adoctor. Anyone care to share any personal stories which mightenlighten us?ThanksRandy Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 2, 2002 Report Share Posted April 2, 2002 Kristy, I am afraid you are wearing your heart on your sleeve about the doctors! I wear mine there most of the time! Barb Martz Re: Advice? Randy,I would very much suggest that you insist on anothertest. Not only blood this time, but a cheek swab aswell. Sometimes the 'normal' cells and ds cells are indifferent places of the body. I would have to agreewith you that if your baby is getting to all hismilestones on time, there is a possibility that he mayhave mds. They may have missed it in the second bloodtest because the cells were in a different place.Now you may have to insist on this! Many doctors willtry to intimadate you and say, what does it matter?And, We already did the test, it is not nessasary! So,just tell them that it does matter and it is nessasaryand it is your child and you have a right to know hisdiagnoses for sure! (lol can you tell I have hadproblems with doctors?)Let us know how it turns out.Kristy--- traylor1 wrote:> My son was born in November and was diagnosed with> Mosaic> DS. The hospital re-did the tests and they> confrimed the> diagnosis.>> However, we wanted a geneticist to look at the test> and give us> the diagnosis. They had more blood drawn and when> we visited> the doctor, they informed us that Caleb did not have> Mosaic DS.> They tested 50 cells and all 50 showed the DS.> Rather than 1> out of 10 when he was first born.>> As he has grown, he seems to be developing fine. In> fact he is> hitting some of his developmental milestones> (smiling, laughing> and in particular rolling over) at an earlier age> than his brother> did and other kids who were even born before him.>> OK, so here is where the advice is needed. We know> he has> DS, the signs are there although they are mild. But> what I am> curious about is since he seems to be hitting his> developmental> milestones, should we question the second set of> tests.>> Personally I can see him being a mosaic, but I also> am not a> doctor. Anyone care to share any personal stories> which might> enlighten us?>> Thanks>> Randy>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 2, 2002 Report Share Posted April 2, 2002 Randy--We've been discussing this on here lately. My daughter was just diagnosed MDS a few weeks ago at age 7. We had always suspected it, because of her "mild" DS features and her good development, but we believed the blood chromosome study we received from Russia when we adopted her. We were having her tested for celiac and decided to go ahead with further DS studies at the same time. The bloodwork still came back full DS, but the cheek swab showed 26% normal cells. From what I understand, this is fairly common. I don't know why. But it doesn't sound like a cheek swab was done in your case. It's worth a try. I recommend having it done. Marilyn Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 2, 2002 Report Share Posted April 2, 2002 Where did the genetist take the sample from.....It is my understanding that if you had a positive tissue test for a mosaicism then there are two different lines of cells indicating a mosaicism. Glenda Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 3, 2002 Report Share Posted April 3, 2002 I appreciate the response I have gotten so far. All testing that has been done on Caleb has been blood tests. From my understanding (according to Childrens Mercy Hospital) the first test done looked at 10 blood cells... the re-test looked at only 6 (this one made no sense to me, but once again this is what we were told at CMH) but CMH looked at 50 blood cells. As of now there has been no swab of the cheek, only blood. However we will be asking that it be done. Randy > Where did the genetist take the sample from.....It is my understanding that > if you had a positive tissue test for a mosaicism then there are two > different lines of cells indicating a mosaicism. > > Glenda Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 3, 2002 Report Share Posted April 3, 2002 Hi Randy, My daughter, Annie, (now 19) met all of her milestones on time too. She seemed to do everything on schedule until she reached the age of three or four. Then we could notice that her greatest weakness was in the area of language. (especially expressive language) That weakness is still with her, although she is able to express herself fairly well now. Hope this helps. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 4, 2002 Report Share Posted April 4, 2002 --My 's the same way. She developed fairly normally, and physically still is, but even though she speaks in full sentences, her speech is hard to understand most of the time. That's her weakest area. She's 7 now. Marilyn Quote Link to comment Share on other sites More sharing options...
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