Brazil's mentally-disabled couple get baby birth certificate after two-month judicial battle

China View 14 June 2008 -

Quote :

Maria Gabriela Andrade Damate, who has Down syndrome, and her boyfriend Fabio Marcheti deMoraes, who has mental retardation, finally got their baby birth certificate, following a judicial battle that lasted over two months, the Brazilian press reported Friday...

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Quote :

According to the press, Valentina, who is perfectly
healthy, is among the only 50 children of mothers with Down syndrome
registered in the world. Although sterility is a feature of
the syndrome in men, females with the disorder can get pregnant, and
the genetic trace is not passed on to the child in 85 percent of the
cases.

Wow. This is something I have always wondered.

Ah yes, but what about that lady who had 2 kids with Down Syndrome before she found out she had DS herself? How many of us are out there with DS and don't realise it??? There may only be 50 registered to mothers with Down Syndrome BUT there may be many more than that in reality!

Cas

Hi Cas,

Where/who was that lady? Was she Mosaic?

It actually doesn't say in that report if she was mosaic or not. But that's another issue in itself. Who knows how many kids with Down Syndrome are mosaic? I heard a story recently about a boy who was diagnosed with DS at birth and then at 18, he was diagnosed as mosaic. And apparently with mosaicism, it lessens over time? Carol will be able to comment more on this...

Cas

A PT I had seeing Isabella once suggested I should check her for Mosaicism (I didn't - it makes no difference to me whatsoever whether she is full Trisomy 21 or not and in any case, I expect she is).

She did come out as full Trisomy 21 in the tests post birth but the PT was saying that it really depends on what is tested. Ok, I don't know all the details, but say for example you test the cells on the skin, they may all show up as full Trisomy 21 but if you tested bone cells, they may not - something like that.

I'm going to sound silly not getting it exactly right but the details around it never meant that much to me. Always left me curious though whether a greater proportion of the DS community was actually Mosaic (or had Mosaic Down Syndrome - not sure of the correct way to refer to it) than we know.

Yes, that's exactly right. I recently got a copy of Jirah's karyotype test to see how many cells they had checked:

http://dsdownunder.com/healthy-f9/karyotype-test-interpretation-t327-20.htm

but yeah, it doesn't change life at all whether they are T21 or mDS. They are still our gorgeous kids

Cas