We aren't going to do it

We met with the genetic counselor yesterday and she was a very nice lady. That is about all I can say about her. Well not really. She wasn't very helpful. We had to push her for statistics and numbers and really felt as though we were getting no where. At one point I felt like saying, if you are trying to dumb this down for us you don't have to, but I think she was just not as informed as she should have been and she was dumbing it down for her. Speaking to her did not change my mind. I still wanted to proceed with in-vitro fertilization (IVF). Then we got home and I used my trusty old internet and I found a medical journal article (click on the link for you die hard science geeks to read for yourself--you may have to click on manual download) from the Oxford Journal of Human Reproduction. This article described our exact situation, using PGD (Preimplantation genetic diagnosis) for Robertsonian translocation with IVF. The study basically showed us two things (1) that the PGD test is not 100% accurate and they frequently find inconclusive results on some of the embryos or initially find a genetic defect and then they keep the embryo(s) once the good ones are chosen and then as "discarded" embryos they do further testing and often find that the ones that were inconclusive were balanced and healthy embryos or ones that they initially diagnosed as defective or unbalanced were actually healthy. That changed my mind. We can't proceed with IVF and risk the loss of healthy lives just so I don't have to continue to endure loss and the pain associated with miscarriage. (2) That our risk of having a trisomy 13 baby (one with a severe genetic defect) that is born is 1%. (3) That actually the fact that we have had 5 pregnancies and 4 miscarriages is statistically speaking probably due to more than just this Robertsonian translocation. Scientists say our risk would only be about 15% per pregnancy as reproduction favors the balanced chromosomes. Clearly we have had more losses than are in line with this percentage so it may still be that we have a progesterone issue (something they can't test for with any accuracy).

Here is a quote from the medical journal in the conclusion for those who are interested (if not skip to the next paragraph:

However, counseling is necessary for couples with proven fertility. (that's us since we have Isabella) A history of recurrent pregnancy loss may not be associated with the translocation, particularly in the case of 13;14 Robertsonian translocations; this link can only be established by karyotyping the products of conception, as in case B above, where two out of four miscarriages had been shown to be trisomy 14. If PGD is requested for couples where a link has not been established, it should be considered whether it is appropriate to subject a fertile woman to IVF procedures when the role of the translocation is not known. The possibility of other contributin factors...should be investigated thoroughly and the couple counseled accordingly. They go on to say: We conclude that Robertsonian translocations do not predispose to abnormal cell division in cleavage-stage embryos, although it remains possible that some couples may produce a high proportion of chromosomally abnormal embryos, possibly due to defects in cell cycle control mechanisms not associated with any chromose rearrangements.

Given all this information (really given #1 above) we have decided that the morally right thing to do is to avoid IVF altogether. As painful as it is for me to say no to IVF, the facts convinced me it isn't something I could do. So now I feel like I have experienced another loss. When I was first told by the doctor it seemed so cut and dry--that we would be finding the lethal embryos and implanting the good ones and holding on the other good ones until some later date, so I got excited and thought we would definitely do it. I imagined my two healthy embryos being implanted and most likely continuing to term and getting a double blessing to make up for all the sadness and loss we have experienced. Unfortunately I let myself imagine a family that we are now not going to get and so it is difficult to let go. We will get through this though, just like we have gotten through everything else. I still have one beautiful daughter who is full of life and makes every day just that much brighter. I guess we have already been doubly blessed...we have a daughter and she has such a beautiful light that shines from her.