Mosaic DS - Testing Parents

Howdy, just had a question about MDS (Mosaic DS). We just had our first son, both aged 28 and so the doctor wants to test us, especially me, for MDS. She said is is rare but it can happen that the parents, usually the mother, has MDS without knowing it! Crazy I thought! How could you live you whole life and not know you had MDS. Anyway did anyone else get tested for this?

I don't know what else to ask about it really. I guess I was just a bit shocked and wondered what others felt or if anyone has discovered they have MDS and didn't know it..

Hi Jay, im relaying this second hand but i heard that there is a lady in the US that has a couple of children (have 8 in my mind) and 2 of her children have DS. She was tested and found out she is MDS. Maybe someone can confirm this for me, cant remember where i heard it.
I was 29 when i had Abbie (just turned 30 ) and i havent been tested and think it is a bit strange you would think if you had more than one DS child than ok... will be interesting to see what others have to say.

It was strange how keen the hospital was for us to have this testing. So much so that they wanted to do it before Tuscan was born, in the stressful and anxious final weeks. In the end we put our foot down and said we didn't want to know, that they should keep the results to themselves and if/when we were thinking about a second child we'd get back to them.

Mostly the hospital was great, but from time to time I'm sure they acted in their own interest rather than ours.

I was barely 31 when Ciara was born and have never been asked that question. Maybe I am different because she wasn't my first child? But then again she was my DH's first....

Does Tuscan have MDS or T21? I was just wondering if the other Mums/Dads who do have a child with MDS were asked?

Apparently he has T21 but we only know that from the original amnio, there has been no other testing since then that I know of.

Is it possible for a child to have T21 if a parent has MDS? I don't know enough about MDS to speculate really.

Now I could be wrong but I thought that T21 was totally random and not genetic at all. I think translocation Down Syndrome is usually hereditary, however I'm not sure about MDS.

It seems strange to me that they are asking you if you have MDS when Tuscan has T21.

Anyway I'm no expert at all but I honestly thought T21 was random. Interested to hear what everyone else has to say.

Hey maybe the whole world is MDS

I don't know enough about MDS either.

I thought T21 was totally random too. It will be interesting to see if anyone else has been asked toi get tested.

So did I! ... hmm... we will all be waiting in anticipation for further posts.

I should really go and do some more reading before posting this, but I'm sure someone will correct me if I'm totally wrong.

I think that Standard Down Syndrome is totally random. Meaning that when the egg and the sperm get together at conception one of them 'randomly' brings an extra copy of chromosome 21. This extra copy of chromosome 21 is then replicated into every cell in the body with the rest of the genetic code.

There is another type of Down Syndrome that essentially works the same way but the extra copy brought isn't random, it's hereditary. I think ...

Then there's MDS which doesn't happen at conception but when the genetic materical is replicated into new cells. Sometimes, when the material is copied an extra copy of chromosome 21 is created. The severity of it can vary immensely from lots of cells having the extra copy of chromosome 21 to very few. (Again if anyone has a textbook answer to this question please give it, I'm remember what the geneticist at the hospital explained to us.)

Given all that I don't understand why the hospital would want to test us if Tuscan has Standard Down Syndrome (the random kind). But I'm suspicious that maybe it's for their benefit rather than ours.

That is so weird Jay & Tim. At least it seems to me. It would be very interesting to know exactly WHY they want to do this. I mean, it's not really going to change your life is it? So yeah, probably more for their benefit than yours There is a family in America (I think we read it on DownSyn Stacey) and the mother ended up getting tested for DS because she gave birth to 2 kids with DS. Very interesting story. I'd love to find it again and read exactly what happened.

Do you guys have a copy of Tuscan's karyotype test? You can read an explanation of it here. It's possible that they told you he has T21 when he actually has MDS. Although, I don't know why they wouldn't have told you that if they suspected it. If you check out International Mosaic Down Syndrome Association, there's lots of info on mds and DS in general (from memory). The IMDSA recommend testing something like 50-100 cells and it's really normal for only about 10-30 cells to be tested which means it may get missed. And different parts of the body are effected so skin could have 60% DS and hair could have 30% and blood could have 80% (These numbers are not an accurate representation but just to give you an idea).

How do you feel about getting tested? I'd love to but I'm a bit strange like that hahaha

Cas

I am sure that you are all right about the T21 being a random event. We had an amnio and Blake's results came back that he had T21 and they told us that there is no need to test us (was suggested as we were only 28) as it was not hereditary. The translocation type is the hereditary one. Not sure about MDS though??

Thanks Cas, I'm going to try and get a copy of Tuscan's karyotype test. I'll call the hospital where we had the amnio done and see what they say. I might push them a bit on why we need to know about MDS too. Jay has actually had the test done so they already have the results for her, we just don't know them. I haven't been tested, yet.

Part of me would like to be tested just so that I know, but to be honest we don't really need any more stress or things to deal with at the moment. It can probably wait, Tuscan is only 11 weeks old. We aren't racing to have any more kids right now.

To be honest we would still have more kids even if the tests came back positive. We love our little man and it is just so wonderful to have him. I can not image loving another child the same, but people say that this is normal and that you always do love the second and third etc just as much!

Not sure how to feel about the testing. If its positive and I feel bad about having down Syndrome, then I will feel guilty about it. Like I am saying that Tuscan should feel bad for having DS. Does this make sense. I don't want him to feel his DS is a bad thing or that he is in any way second rate, however if I have it I think I would feel like I am all those stupid stereotypes. Not sure if I am making sense.

We always make jokes though, cos I have one kidney and we say that I must have had DS in my other kidney! Stupid I know....got to make light of these situations!

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I'm going to try and get a copy of Tuscan's karyotype test. I'll call the hospital where we had the amnio done and see what they say.

If you had a doctor order the amnio then he will have a copy of Tuscan's amnio results. If you went through the out patients clinic of the hospital then they will have it. When you ask for your test results make sure you ask for a copy of your amnio results. They dont do karyotype tests, this is just a pic of Tuscan's chromosomes and to the best of my knowledge you dont get these anymore. I had an amnio and i got these results and also the results of the FISH test. This is the rapid testing they do so you can get the results in 24hrs. If you had to wait 2wks then you didnt get the FISH testing.
If your amnio results showed that Tuscan had T21 and that is what you were told then that is what he has. T21 results show that all the cells are effected with the extra gene. MDS cells when tested will show that not all cells are effected. Usually with an amnio they test enough cells to tell you exactly T21 or MDS.

and why wouldnt u have more babies, he's so cute

You're funny Jay .. I know what you mean. I got all worked up a couple of months back thinking I may be pregnant, having all those thoughts in mind, I decided to go see the GP and asked for a pregnancy test, she wasn't my regular GP, it was the first time I'd seen this GP and of course she read through my history and before she could say anything... I started "Yes, I've just had a baby girl, and she has ds and before you say something I"m okay with having another baby, I can handle that, I'm aware of my age thanks, and no... I'm not going to have any amnio test done, I've been there and done that.. it would be a high chance if this baby was to have DS and I"m sure if baby has DS I'll cope"

She looked down at the test result and said... "Well, no.. your not pregnant, maybe you can wait a few days and come back and see me and we'll have the test done again if you like?"

Okay, I definitely wasn't pregnant, I put it down to PMT cause I got my period later on that day

I did have that fear of having another baby after Tori-Shaye and if it had no health issues would I be abandoning my little princess? But I have read alot of these wonderful mums and these families and how they have coped so well. I'm sure we could too.(But not really sure if I do want to have another wasn't telling the GP that though )

Lis

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and why wouldnt u have more babies, he's so cute

Ditto
And well, alas no more babies here my uterus has retired

My DD has MDS so while I am no expert at all I can say its as random (if not more so) than T21. I would say that the reason they want to test you is if you have MDS there is a much greater risk of you having children with DS. If that doesnt worry you then I wouldnt bother with it at all. Having said all of that no one has ever mentioned testing us but then Brielle wasnt our first . Man all this stuff is so confusing why cant they just let us enjoy our children

Thanks for all the input. i will let you know if we get the results one day!

I remembered we had a bit of a chat on the specifics of MDS on this thread. If anyone is interested there is a helpful article on it here.

Tim, did they end up explaining what the deal was with testing Jay?

Nah we haven't followed it up yet. I want to have a really good understanding of how it all works before we go in there and talk to the genetic counsellor who was so keen for us to have the testing. I'm sick of getting rolled by medical professionals because they know more than me .

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I'm sick of getting rolled by medical professionals because they know more than me .

Oh yeah.. I hear you..

I am wondering Tim if this is the same genetic counsellor who suggested that we could have further tests to determine if Wil's DS came from me or D! What would be the point????
Bloody so called professionals
I have a few more thoughts about this particular counsellor but will keep them to myself!

Yeah it is totally for their benefit and their interest in the science of it all!

rlq02 wrote:

I am wondering Tim if this is the same genetic counsellor who suggested that we could have further tests to determine if Wil's DS came from me or D! What would be the point????
Bloody so called professionals
I have a few more thoughts about this particular counsellor but will keep them to myself!

I'll bet it is just for the science. From the reading I've done it seems there's a fair bit of discussion about what percentage of extra chromosomes come from mum vs dad. They were probably doing a study on it or something.