Amnio or no Amnio

We have a big decision to make this week - do we want to do an Amnio or not?

Sometimes I just wish we didn't have so many choices in our lives - it just seems to complicate life needlessly!

Given the fact that I am a 'geriatric' Mum - as the medical establishment so kindly labels me, I am automatically offered a number of tests for the baby. Hence our early ultrasound - given my age we were sent directly to Fetal Assessment - no use messing around with the standard ultrasound for us 'geriatric' Mums! So far the baby looks great - he was 'hopping' around in there, to use the ultrasound techs words.

Unfortunately, we found that I am a week further along than originally thought (this is a good thing, otherwise my due date was April 2 and just a wee bit too close to Harry's birthday for comfort!!!). But this meant that we were too late (had to be between 11 - end of 13 weeks) to look at the fluid in the back of the baby's neck.

Of course it goes without saying we'd love to be re-assured that this baby is 100% healthy. Except for our ages, mine in particular, we have no other risk factors for the baby.

One of our biggest concerns, of course, was Harry's cancer. There *has* been a genetic link found to Harry's cancer. There is one doctor, a Dr. Biegel at Children's Hospital of Philadelphia (CHOP), who is the foremost expert in the United States on the biological/genetic aspect of Rhabdoid cancers. This type of tumor is known to be caused by deletion of or damage to a gene (INI1) on the 22nd chromosome that effectively plays the role of a "tumor suppressor". Without getting too technical, it is usually a mismatched amino acid base pair (A, T, G, C) or an inadvertent STOP codon which essentially messes up the order of the amino acids that create the DNA strand. There are four possible genetic links with Rhaboid cancer (now cancers that do not carry the genetic deletion or damage to INI1 on chromosome 22 are no longer considered true Rhabdoid cancers):

BEST CASE: Localized or Sporadic - The deletion of the gene on the 22nd chromosome only presents in the tumor tissue. This means that if the primary tumor can be removed and/or killed, the chances of recurrence are smaller than in the next two cases. This is called a sporadic mutation - the mutation only occurred in the tumor location.

BAD CASE: a) De novo b) mosaicism (worse than de novo) - The deletion of the gene on the 22nd chromosome presents in all bodily tissue (tumor, blood, ect.), which is called a germline mutation. This is referred to as "Rhabdoid Predisposition Syndrome - RPS" and basically means that the child will be predisposed to rhabdoid tumors throughout his/her life, and is much more likely to experience a recurrence due to the fact that every cell in the body has the mutation. This can also include recurrences outside of the primary tumor location (kidneys, lungs, other areas of the CNS, etc.). However, in a De novo mutation, the gene deletion does not exist in either parent. Rather, the mutation occured very early in embryonic development, or in some cases, was there prior to conception (a mutation in a single or a few sperm or egg cells), which is referred to as mosaicism. Due to mosaicism, any future children have approximately a 1%-2% chance of receiving the gene deletion.

WORST CASE: Inherited germline - For the AT/RT / Rhabdoid patient, there is no difference between this case and the one above...they both mean that every cell contains the deletion and recurrence is likely. This case, however, means that either the mother or father also have the deletion in their constitutional (e.g. blood) cells, and directly passed this genetic predisposition down to their child. This scenario is the least likely, since most people with this gene deletion die in childhood, never bearing children. There are, however, people who have lived perfectly normal lives as carriers of this mutation, though they are rare. I (Jeff Shaddix) know of three current cases of AT/RT where the mutation was passed directly from one of the parents. The ramifications of this scenario are much greater, because it can effect siblings, nieces, nephews, etc., as this mutation could run in the family. Other children from this couple have roughly a 50% chance of having Rhabdoid predisposition, which could lead to childhood death.

(Thanks to Jeff Shaddix from www.cbtrf.org and the parent discussion forum for the above information on the different genetic options of the genetic mutation).

Harry's tumor biopsy sample was sent to Dr. Biegel at CHOP for genetic testing back in March / April 2008. Very fortunately, his tumor was found to be the first case - localized or sporadic - only 50% of his tumor sample contained the mutation and 50% was healthy cells. This means that he did not carry the genetic mutation from birth and neither Henry nor I would be carriers.

If his tumor had been inherited - either de novo or via mosaicism - then the risk of other siblings getting this cancer would be significant 1 - 2% in terms of a de novo mutation and possibly higher in a mosaicism (there would be no way of telling what % of a parents sperm or eggs carried the mutation) and as high as 50% if one parent were a carrier. As unbelievable as it may seem for such a rare cancer, there are a number of families that have had 2 children die from this cancer. But in all those cases the cancer was one of the inherited varieties.

The risk for us is still non-zero but very, very, very small - something like 0.00001 x 0.00001.

We just have a lot of faith that this baby is coming for a very different life experience than Harry and so we are not concerned. So there is no need to test for Harry's cancer - because it wasn't inherited.

Had we had an amnio with Harry it would have told us he was a completely healthy baby - it couldn't of told us that when he was 10 months old he'd be diagnosed with a lethal cancer.

The risks with an amnio also just seem so high. There is a 1 in 200 chance of miscarrying a perfectly healthy baby. These may sound like reasonable odds to some, but when you have had the 1 in ten million thing happen to you, 1 in 200 isn't particularly reassuring! We would be devastated to miscarry a perfectly healthy baby boy.

Sorry to all my male friends and family out there - but I have to believe that if men had babies we'd have developed a better genetic testing procedure than an amnio.

I mean really, can you imagine telling a perfectly healthy adult:

"We want perform a medical test on you, just to verify that you are healthy, because you have certain risk factors for disease. No, we have no real reason to believe that you are sick, just your age, but we do this test all the time. And, oh, by-the-way, one wee thing, there is a 1 in 200 chance that you will die as a direct result of this test."

Who in there right mind would subject themselves to this test? I'd say no-one. But yet, we ask mothers and fathers to make this decision for their children. Crazy.

We'll do the standard blood testing. But as you can maybe guess, we are really leaning against doing an amnio. I hate the thought of invading the baby's space with a needle. I'm not even sure what we'd do with the information when we got it. By the time we got all of the relevant information I would be at least 20 weeks and that seems way, way, way too late to terminate a pregnancy, at least for me, personally.

And also, I look at it this way, I would never, ever, ever for a moment give back the 16 months we had with Harry. I would do it all over again with him if I had to. I would never ever say I wish he hadn't been born to spare us the grief, my life has been so forever and deeply enriched by being his Mum.

So I guess I look at the whole amnio thing as a relic of our societies' desire to control that which really is not controllable. Henry and I have always maintained, that anyone who wants certainty in life should not become parents - it is the ultimate act of surrender to the unknown!!!

I have become way more spiritual through my experience with Harry (I specifically do not say 'religious' because I associate that with an institutionalized view of faith and most institutions would kick me out and label me a heretic for my spiritual beliefs!). And I really believe that we come into this life for a particular set of experiences. Harry's life and life experience was uniquely his own. His little brother is not coming to live OR re-live his brother's life - but coming for his own unique life experience.

I just have faith that this little guy is coming to be healthy and be with us for a long time. I don't want him surrounded by a whole lot of negative thoughts and fears either. I just want him bathed in loving, positive thoughts and feelings. I know he already knows how much his family loves him, even though we haven't even met him yet.

So ... we're leaning against the amnio ... but we still have a week or so to finally decide ....

Peace out,
Cynthia