Help me not freak out....

[CJRA]

I had my D&C on June 14 at 12wks following a missed miscarriage at
6w1d.

My OB just called to say the tissue sent for analysis showed some
potential genetic abnormalities and referred us to a genetic counselor.
I have no idea what that means, she wasn't more specific...I guess
we'll find out when we can get an appointment. In the meantime, I'm
freaking and trying not to.

I'm 35, almost 36....hoping we still have a chance at this (my mom gave
birth to me at 36, my sister at 39 - kids #7&8), and my 40 yr old
sister is due with what looks to be a healthy baby in 2 weeks.

[Emily]

CJRA wrote:
> I had my D&C on June 14 at 12wks following a missed miscarriage at
> 6w1d.
>
> My OB just called to say the tissue sent for analysis showed some
> potential genetic abnormalities and referred us to a genetic counselor.
> I have no idea what that means, she wasn't more specific...I guess
> we'll find out when we can get an appointment. In the meantime, I'm
> freaking and trying not to.
>
> I'm 35, almost 36....hoping we still have a chance at this (my mom gave
> birth to me at 36, my sister at 39 - kids #7&8), and my 40 yr old
> sister is due with what looks to be a healthy baby in 2 weeks.

Hi CJRA,

That has to be hard news to take, but I don't think it means
that any subsequent pregnancies will necessarily have similar
problems. The genetic counselor should be able to help you understand
what the nature of the problem was, what the chance of it
recurring is, and what your options are. I don't think 36 is
so old that you really need to worry.

Emily

[CJRA]

Emily wrote:
> CJRA wrote:
> > I had my D&C on June 14 at 12wks following a missed miscarriage at
> > 6w1d.
> >
> > My OB just called to say the tissue sent for analysis showed some
> > potential genetic abnormalities and referred us to a genetic counselor.
> > I have no idea what that means, she wasn't more specific...I guess
> > we'll find out when we can get an appointment. In the meantime, I'm
> > freaking and trying not to.
> >
> > I'm 35, almost 36....hoping we still have a chance at this (my mom gave
> > birth to me at 36, my sister at 39 - kids #7&8), and my 40 yr old
> > sister is due with what looks to be a healthy baby in 2 weeks.
>
> Hi CJRA,
>
> That has to be hard news to take, but I don't think it means
> that any subsequent pregnancies will necessarily have similar
> problems. The genetic counselor should be able to help you understand
> what the nature of the problem was, what the chance of it
> recurring is, and what your options are. I don't think 36 is
> so old that you really need to worry.
>
> Emily

Emily,

Thanks for the reassurance....between mine and DH's siblings, there's
some 24 healthy biological children produced (and one born with severe
defects who didn't survive), so I think overall the odds are in our
favour. It was actually the nurse who called me for the OB, and she
couldn't give me a lot of info, which is the hard part. I'm a
scientist, I want hard cold facts. So now I have to sit and wait, which
means time to worry.....

[Emily]

CJRA wrote:
> Emily,
>
> Thanks for the reassurance....between mine and DH's siblings, there's
> some 24 healthy biological children produced (and one born with severe
> defects who didn't survive), so I think overall the odds are in our
> favour. It was actually the nurse who called me for the OB, and she
> couldn't give me a lot of info, which is the hard part. I'm a
> scientist, I want hard cold facts. So now I have to sit and wait, which
> means time to worry.....

Sitting and worrying is no fun. Do you have an OB appointment
next, or the genetic counselor?

Emily

[CJRA]

Emily wrote:
> CJRA wrote:
> > Emily,
> >
> > Thanks for the reassurance....between mine and DH's siblings, there's
> > some 24 healthy biological children produced (and one born with severe
> > defects who didn't survive), so I think overall the odds are in our
> > favour. It was actually the nurse who called me for the OB, and she
> > couldn't give me a lot of info, which is the hard part. I'm a
> > scientist, I want hard cold facts. So now I have to sit and wait, which
> > means time to worry.....
>
> Sitting and worrying is no fun. Do you have an OB appointment
> next, or the genetic counselor?
>
I'm scheduled with my OB for my annual a week from Today. I'm trying
now to get an appt with the genetic counselor, they're at lunch. Just
depends on when she can see me.

[Emily]

CJRA wrote:
>
> I'm scheduled with my OB for my annual a week from Today. I'm trying
> now to get an appt with the genetic counselor, they're at lunch. Just
> depends on when she can see me.

Sounds like it's also time to make some really great plans
for the weekend ;-)

Emily

[CJRA]

Emily wrote:
> CJRA wrote:
> >
> > I'm scheduled with my OB for my annual a week from Today. I'm trying
> > now to get an appt with the genetic counselor, they're at lunch. Just
> > depends on when she can see me.
>
> Sounds like it's also time to make some really great plans
> for the weekend ;-)

hmmm, that's an idea. We've been spending all our weekends renovating
our house (that's another issue - lead dust....)

Just got an appt for July 29. So will see my OB before that and hope
she can give me more info in person.

Thanks for the support.

Cherise

[Ilse Witch]

On Tue, 12 Jul 2005 11:32:24 -0700, CJRA wrote:

> My OB just called to say the tissue sent for analysis showed some
> potential genetic abnormalities and referred us to a genetic counselor.
> I have no idea what that means, she wasn't more specific...I guess
> we'll find out when we can get an appointment. In the meantime, I'm
> freaking and trying not to.

Most m/c's occur because of a chromosomal problem with the embryo, which
causes it to stop developing very early on. This accounts for about 70% of
the m/c's in healthy women. I suspect that they found something like that,
but want to ensure it is not due to a chromosomal problem with either of
you. Reading your family history, I think the odds are strongly in your
favour.

I hope you get some clarity into this soon! I'd take Emily's advice and
plan something fun to get your mind of things.

--
--I
mommy to DS (July '02)
mommy to four tiny angels (Oct '03 - Oct '04)
guardian of DH (age classified)
expecting twins (boy/girl) in August

[xkatx]

"CJRA" > wrote in message
ups.com...
>I had my D&C on June 14 at 12wks following a missed miscarriage at
> 6w1d.
>
> My OB just called to say the tissue sent for analysis showed some
> potential genetic abnormalities and referred us to a genetic counselor.
> I have no idea what that means, she wasn't more specific...I guess
> we'll find out when we can get an appointment. In the meantime, I'm
> freaking and trying not to.

I'm sorry for your mc, and all the above, I have no advice at all, so I
won't even try. :(

> I'm 35, almost 36....hoping we still have a chance at this (my mom gave
> birth to me at 36, my sister at 39 - kids #7&8), and my 40 yr old
> sister is due with what looks to be a healthy baby in 2 weeks.

You're young! Seems a lot of people are starting families at an older age
than they used to. My mom is 48. Her friend, same age as she is, has a 5
year old son and a 2 year old daughter. My mom takes my sons to play with
her friend's kids, and my boys are 5 and a half and 4 and a half! I can't
see my mom having kids, but her friend just started her family recently, in
her 40s, and she has 2 healthy children, even though her husband has MS and
all that, and they are both older.
Hoping for the best!

[Jenrose]

"CJRA" > wrote in message
ups.com...
>I had my D&C on June 14 at 12wks following a missed miscarriage at
> 6w1d.
>
> My OB just called to say the tissue sent for analysis showed some
> potential genetic abnormalities and referred us to a genetic counselor.

Something like half of all miscarriages are caused by genetic abnormalities.
The genetic counselor will have you and your hubby get tested (most likely)
to find out if it is inherited from either of you or "just one of those
things" (also called "de novo") or a random mutation in that one egg or that
one sperm.

If it is inherited, depending on what it is, it may affect future
pregnancies or not.

With Shiny's genetic condition (a deletion on the fourth chromosome), it is
most likely de novo, but it could be that one of us has a "balanced
translocation" where the material she's missing happens to have landed
somewhere else. The potential outcomes of a parent with a balanced
translocation are *complex* and not easily parsed out into a "50/50" or
"25/75/25" percent chance like many simpler genetic issues. Possibilities
with a balanced translocation include:
Parent transfers two normal chromosomes
Parent transfers *both* abnormal chromosomes, which means that no effect may
be seen in many cases.
Parent transfers a normal chromosome and the chromsome with a deletion and
the result is a partial monosomy (what Shiny has)
Parent transfers a normal chromosome and the chromsome with the extra and
the result is a partial trisomy.

Where this gets really complicated is that in one part of cell division, the
chromosomes "swap" material" in blocks, which is why kids can inherit things
from both grandparents on one chromosome... so at that stage, weird things
can happen with a kid ending up with a slightly different "chunk"
distribution of the abnormal section. It's REALLY variable.

So it may be that a partial monosomy is livable (Shiny certianly seems to be
doing fine) while a partial trisomy in the same area may not be compatible
with life (and although we suspect that her deletion is random, it might
explain the miscarriage I had the month before she was conceived.)

For us, the issue is academic so we have not had further testing, because we
don't really plan on more kids. I'm curious, but not $600 curious. If we
planned another baby, I would DEFINITELY be $600 curious.

Jenrose

[Mum of Two]

"CJRA" > wrote in message
ups.com...
>I had my D&C on June 14 at 12wks following a missed miscarriage at
> 6w1d.
>
> My OB just called to say the tissue sent for analysis showed some
> potential genetic abnormalities and referred us to a genetic counselor.
> I have no idea what that means, she wasn't more specific...I guess
> we'll find out when we can get an appointment. In the meantime, I'm
> freaking and trying not to.

((((CJRA))))

As some of the others pointed out, a genetic abnormality is not necessarily
(and not usually) a _hereditary_ genetic abnormality. That is, it is likely
not a genetic problem inherited from you or your husband, but a random
genetic error - which can happen to anyone, regardless of age or health
status. Not really comforting I know, when you fall on the wrong side of
statistics, but I do hope this is the case for you.

> I'm 35, almost 36....hoping we still have a chance at this (my mom gave
> birth to me at 36, my sister at 39 - kids #7&8), and my 40 yr old
> sister is due with what looks to be a healthy baby in 2 weeks.

While fertility decreases in the mid-30's, there is still every chance you
will have a healthy baby - or two or three. My own mother had four
pregnancies (and three healthy children) between the ages of 35 and 41.
Family history is important, and for you it looks good - you don't seem to
be at a high risk for early menopause, and since your mother and your sister
were fertile later in their childbearing years, hopefully the same will hold
true for you. Obviously physically speaking the sooner the better, but see
what the genetic counsellor has to say.
I hope everything goes well at your appointment, you don't need this worry
on top of the loss of your baby. My thoughts are with you.


--
Amy
Mum to Carlos born sleeping 20/11/02,
& Ana born screaming 30/06/04
barton . souto @ clear . net . nz
http://www.freewebs.com/carlos2002/
http://www.babiesonline.com/babies/a/ana%5Fj%5F2004/

[Pologirl]

CJRA wrote:
> It's
> only now that they've received more labs back she said I need to see a
> genetic counselor, which leads me to believe it's not the usual random
> thing.

I think you are over-interpreting the referral to a genetic
counselor. Referring you to a (trained, we hope!) counselor
is the standard of care for anything to do with genetics.

A chromosomal abnormality in the fetus is the result to be
hoped for! A miscarried normal fetus is cause for concern
re future pregnancies.

FWIW I saved nothing from my MC last month, simply because
my previous pregnancy was normal and resulted in a healthy
child. So there was no reason to suspect this MC was due
to anything other than an error in chromosomal segregation.
Nonetheless, I still needed reassurance and discussed this
line of reasoning with the midwife at length after the MC.
My MIL shared with me the fears she remembers from her own
MCs 40 years ago, and I can tell you today we are so much
more fortunate to have access to information. My MIL's
story is heartbreaking, because to this day she thinks all
MCs are basically the same and necessarily cast doubt on
the woman's ability to ever bear a child. Would she feel
better if I told her otherwise? I think not; I think she
would feel bitter and perhaps also inferior for not having
an education and knowledge comparable to mine.

Given that your practice's nurse, not your OB, called you,
I suppose they're too busy for a long talk. You are lucky
to have access to a genetic counselor, a specialist, to
talk with about this.

Hang in there, and may you get pregant this month.

[Pologirl]

I recommend a new book, "Coming to Term", that explains
clearly the various causes of miscarriage, and much related
information, with references and with a minimum of non-
relevant content. The publisher's promo page is here:
http://www.houghtonmifflinbooks.com/catalog/titledetail.cfm?titleNumber=688395

[CJRA]

Amy, thanks for the words of support.

I think I just freaked because we had already discussed genetics,
random events etc and were basically going with the idea of a 'normal'
aberation, ya know what I mean? And now, it's not just the usual random
genetic event. Well, that's how it was presented... but we'll see when
I know more.