[tri-wings] Re: Introduction - Brenda

----- Original Message ----- 
From: "Brenda Grabow"
>>This was the hardest decision we ever had to make.

Hi Brenda,
My name is Karen, we spoke briefly off list. This definitely was the most 
difficult decision that you have ever made and probably will ever make.

But Brenda it was definitely a decision that you made with love. None of us 
can do any more than you have done - to take the information that we have at 
the time and make the best decision we can based on that information. Thats 
a decision made with love and thats the best decision we can ever make.

Hindsight, doing the what if's really just questions your love and that you 
dont deserve. We could all play the what if game with many aspects of our 
lives, I know I certainly could. If only I could have had another hour, if 
only I could have held him, if only.... The list is endless. But I try and 
also remember that everything happens for a reason, even when I don't 
understand what that reason is at the time.

That doesnt stop the hurt and the pain - unfortunately there is nothing that 
will do that. It has only been 4 weeks you really do need to be gentle with 
yourself and take one day at a time and sometimes its one hour and even one 
minute.

>> It seems like post-partum has kicked in and I don't have a baby to show 
>> for it!!!

Thats the cruelest part - you have all the hormones and feelings but empty 
arms. If the post partum blues get too severe don't ignore them, you might 
need to see your doctor - and not one that will tell you just to go and have 
another baby. You know yourself that nothing will ever take the place of 
John in your heart.

> We were never referred to genetic counseling, a social worker, 
> nothing!!!!!  We were left on our own.  We were so blindsighted that we 
> weren't functioning completely.

Brenda this is something that I am campaigning against quite strongly at the 
moment. Its not right and its definitely not fair. I am positive that your 
are not the only one that is in this situation and its something I might 
take up a little further later on, especially with regards to possible 
solutions. That doesnt help you I know, but perhaps you can help others.

One thing you could possibly do right now is to actually write a letter to 
your doctor and tell him how you feel about the way he treated you, and also 
send a copy to the his registration body. Many people feel the way you do, 
but unless we concretise all of this it wont change anything.

>>I have no idea if John had full T-13 or not.  The doctor said they had 
>>seen many anomalies on the sonogram before they did the amnio, but never 
>>said anything!!!  He should have told us that there "might" be a problem, 
>>so we would have been prepared.

I agree that you should have been told what they saw on the ultrasound. 
Unfortunately some doctors think that they are doing us a favour by not 
saying. They may be right when it turns out not to be anything major. But I 
believe that for the most part parents are intelligent human beings who are 
capable of knowing the whole truth.

One thing to remember though is that even if he had told you there is little 
that you could have done other than worry. They wouldnt have come out and 
said that they suspected T-13. Rather they would have suggested possibly 
Down syndrome which is a different story in many ways. However you were told 
you would still have felt broadsided, we all have.

>>When I asked him if this could happen again, he said "absolutely, you are 
>>almost 40."   I'll be 38 in 2 weeks!!!!  Does that mean this is inherited? 
>>He said "maybe, not really sure."

I will give you some background here. trisomy 13 is a little different to 
trisomy 18 as far as the genetics of inheritance goes so this is not my 
usual answer.

A "full" trisomy is where the whole chromosome is duplicated - it is usually 
NOT inherited. Its an "error" that occurs when the cell divides and actually 
happens before conception.

A partial trisomy is where part of the chromosome is duplicated and usually 
this attaches to another chromosome. Generally the problems associated with 
this depend on the amount of duplicated material and what genes are 
involved.

And mosaicism is where the duplication is in only some of the cells and not 
others.

There is usually a difference between the effects of a partial trisomy and 
full trisomy EXCEPT in the case of trisomy 13. With trisomy 13 you can have 
something called a Robertsonian translocation.

A chromosome actually has two parts - the short arm, called the p arm for 
petite and the long arm, called the q arm because its the next letter in the 
alphabet, and they attach in the centre by something called the centromere. 
Some chromosomes are long and some are short.

The 13th chromosome is actually a very short chromosome. Although the short 
arm of the 13th chromosome contains genes, as far as scientists can tell 
there are no "active" or essential genes on the p arm of the 13th chromosome 
(and a few other "short" chromosomes eg 14, 21 etc)

So with chromosome 13 you can have a duplication of just the q arm and you 
have exactly the same effects as "full" trisomy 13 and in most cases very 
little differentiation is made by the doctors because the effects are the 
same.

Where this becomes important is that a lot of people have what they call a 
Robertsonian translocation. The p arm of the 13th chromosome breaks off and 
the remaining q arm attaches itself to another chromosome. Sometimes its the 
other 13th chromosome and sometimes its one of the other small chromosomes.

So long as you have two q arms the person themselves wont have any problem, 
however when you have children there is a risk that the baby will end up 
with one of three scenarios.

Scenario 1 you have the normal compliment of chromosomes, either as two 
complete 13th chromosomes or a Robertsonian translocation. Either way all 
the essential genetic material is there in the right amount.

Scenario 2 you have three q arms

Scenario 3 you are missing a chromosome or a q arm which is called a 
monosomy and that will result in a miscarriage. (no child with a complete 
monosomy of a whole chromosome has ever been born alive)

Now all of that sounds complicated - and if you want the really short answer 
it is that in some cases Trisomy 13 CAN be inherited whereas if you were 
talking about Trisomy 18 I would say that the chances of it being inherited 
were extremely REMOTE.

However usually if one of the parents has a Robertsonian translocation there 
is a history of trouble falling pregnant or repeated miscarriages.

When you see your doctor for your check up ask him for a copy of the 
karyotype from the amniocentesis. You will definitely need it when you speak 
to the genetic counsellor and its something every parent should keep a copy 
of because questions will come up in the future, even amongst other family 
members.

The karyotype will give you a lot of the answers because if there was a 
Robertsonian translocation it will show in John's karyotype. If there is 
none then there is a high degree of certainty that neither you or your 
husband carry a Robertsonian translocation and so your risks for future 
pregnancies are the same as anyone else.

If there is some delay in getting to see a geneticist and you get a hold of 
the karyotype you can email it to me (a scan or fax is preferable to just 
typing it out because they use a language thats totally alien and every dot 
and comma means something) then I can give you a bit of a run down on what 
it says so that you can be prepared when you do see the geneticist.

As for the risks associated with being an older mum, that is over 35, I will 
send another post about that shortly - its a question I have been asked a 
few times of late. But again the short answer is - yes the risks increase 
the older the mother gets - BUT they don't increase significantly until you 
are over 40. But as the others have said statistics don't mean much when you 
have already been hit by lightening.

Take care sweet and I hope that I have been able to answer some of your 
questions and ease the pain a little. You can vent all you want sweet - we 
are here to listen and help wipe away the tears.

"It is not how much we do, but how much love we put in the doing. It is not 
how much we give, but how much love we put in the giving."
 ~ ~ Mother Teresa ~ ~

Keep Looking For Rainbows!!
   _--_|\
 /Karen \
 \ _.--._ /
          v Karen, Mum to Alex (10 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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