[tri-med] Re: Calling all mosaic-ers

----- Original Message ----- 
From: <StamTORCH
> Am I reading this correctly??  I will use Michael as my example.   Michael 
> is
> t18 mosaic.  He tested 25% in his blood.  Let's say he  fathers a child.
> Does that mean he will not pass on the T18 even if the  sperm that did the 
> deed
> contained 2 #18????  Or am I way off and should go  make some more coffee 
> and
> then re-read this again?

Way off to what I was talking about - but what you have asked is a very 
legitimate question and one we parents of boys have asked and asked and 
asked. Which is good - cause it means I can answer you :-)

When someone with a mosaic trisomy has a child there are two possible 
scenarios. They can have a child with a full trisomy or they can have a 
child with no trisomy (apart from the same risks as the rest of the 
population). They will not have a child with mosaicism (barring another 
unlikely? scenario that I will mention in a moment). Nor can they have some 
of each. Its either going to be all or nothing.

Whether they will father (or mother) a child with a trisomy depends on 
whether the sperm or eggs has a trisomic cell line or not. And thats 
something that they cannot tell until they start producing ejaculate in boys 
or until they start ovulating in girls (in girls you could theoretically do 
an ovarian  biopsy at a younger age I suppose). Because of age and privacy 
issues that makes it their question to ask the geneticist not the mothers 
BTW. Size, shape etc of the genitalia make no difference.

There is always the possibility that they can have a msoaic child IF cell 
rescue goes into play. That is if they have a baby with a trisomy and then 
the cell goes into "rescue" and loses a chromosome. This is never complete 
and will result in mosaicism to some degree. They used to say that that was 
highly unlikely, but theoretically it is possible and while we know so 
little about older mosaicers it will probably remain an unknown.

Personally, if it were up to me, I wouldn't be taking the chance nor be 
willing to be part of a science experiment. If the trisomic cell line were 
in the gonads then I would be opting for sperm (or egg) donation. I guess, 
for the truly dedicated mothers of girls, you could consider freezing your 
own eggs for them "just in case". Personal decision for every parent 
there.......

Of course we ask what have other mosaicers done. there are only two mosaic 
18's described in the literature. One opted for technology assistance and 
the other had a typical child.

Can they have a child? is probably the first question that we should ask. 
And for boys thats fairly easy to see as a baby / child - does it work? 
(that is can they get an erection?) I know Alex's does cause it made nappy 
time interesting and I am sure that he did it on purpose :-)))) Of course I 
do have to think about it as Alex is definitely starting to go through 
puberty but there are no physical puberty changes or even pre-pubescent 
changes happening at this point. So we are going to have to go and visit the 
endocrinologist and check testosterone levels etc. If they are low or too 
low it needs to be treated now to allow puberty to happen normally and so 
that any treatment can achieve the best results. (oh boy is this kid going 
to kill me when he is old enough to read the archives!!!!)

Of course the puberty thing is getting to me at the moment, mainly because I 
have no previous boy experience (and no male in the house to ask). And we 
definitely have adolescent hormones kicking in!!!! For example when I rang 
the geneticist last week she asked me if Alex was producing any ejaculate 
yet - and I couldn't answer. He wears pull ups at night (night time 
incontinence we have not managed to get around) and changes them himself. So 
I have absolutely no idea. I could ask but I am too embarrassed and I don't 
think he would tell me anyway........ Is he exploring - oh yeah he sure 
is..... thats why I rang :-)) I really refuse to do this puberty thing 
again, I refuse, I refuse.......... Can someone lend me a male to take him 
through this stage please...........

Life consists not in holding good cards but in playing those you hold well.
                                            -- Josh Billings

Keep Looking For Rainbows!!
   _--_|\
 /Karen \
 \ _.--._ /
          v Karen, Mum to Alex (11 years, T-18 Mosaic)
http://members.optushome.com.au/karens


                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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