Thursday, February 19, 2009

Results

Well, the results are in.

First off, the results were XX. So my August 09 baby would have been a little girl.

And the results. Again, just like the rest of my life... ambiguous.

They found a structure abnormality with chromosome #5. I was told that "they have never seen this before, and don't know what to say. That it was not a trisomy, but abnormal structure. That they "think" it was an isolated problem but asked if we have been karyotyped."

Yes we were Karyotyped without any "abnormalities" in 2004.

So OB's office does not know what to say. They feel that no genetic counseling is requried, since they do not know what to make of the results. That it is not an obvious seen before problem.

So how does that make me feel? I do not know.. I feel like I am left with partial information. What the hell is a structural abnormality? The Nurse could not answer those questions.

I looked up chromosome 5 abnormalities, and not a whole hell of a lot out there. But I did see that there are cases where chromasome 5 sometimes breaks and then re-forms into a circular structure, which is a fatal error.

I also did read about a disorder called le Crie-du-Chat syndrome, where children born with abnormal chromasome 5 have all these physical and mental problems, the name is french for the characteristic newborn cry that sounds like a cat screaming... Wonderful image...

So I do not know what to think. I am still glad that this was the last picture of the puzzle for this whole event, and now moving forward is a bit easier without anything looming over my head. But as for the meaning, or if I can make meaning out of it... Well, I can't. I don't know what to think. I will be getting my medical records, so hopefully I will be able to dig a bit more out of the actual report, but I bet not..

In the end, what does this mean? I have no genetic results for the previous five, so I have no way of knowing if this is a recurring error or what. It must not happen all the time, since I DO have ONE child without any obvious chromosomal issues...

So again, left with the "just keep on trying" and the "if we try enough times, statistically one will work" But how many more losses, more surgery, more bleeding, more mental misery must I endure to get that one more? I do not know.. Might be none, might be five... I just do not know...

No comments:

Post a Comment