Tuesday, September 2, 2008

Piece by piece

Any disease is best cured when it is diagnosed properly. Obviously. Whatever the ailment might be, the key is the diagnosis. 

For years we had no diagnosis. I went through all kinds of tests and checks, and everything always came back within the normal range. The points that stood out were:

  • Is my uterus bicornuate? My OBGYN (who I don't trust any more - but that makes for the story on another post some other day) thought it was. The first RE I went to said I had a "mild variant of Bicornuate uterus - but no visible septum". My current RE says I have "an indentation" on the top of my uterus, but it's not bicornuate, nor is it anything that you can cut, or fix. What CCRM thinks is yet to be known.
  • PCOS: No. Although my first RE put me on metformin (saying "It won't hurt, all it can do is help"). 
  • Endometriosis: I have very bad cramps in my luteal phase - throughout the luteal phase, not just PMS cramps. So much so that I wake up at night cringing in pain. First RE was constantly dismissive of my pain, till I read about endometriosis and fought with him. Then I had a laparoscopy in 2003. They found "a couple of tiny spots" which were removed. So Endometriosis: No.
  • Tubes: Clear. 
  • Hormones: All normal. 
  • Cycles: Slightly irregular - but I personally know people with completely out of whack cycles who got pregnant immediately.
  • Height / weight - Normal. 
  • Food habits: normal
  • Stress: Gone from low to high to low to high. I mean, I wasn't stressed when we started TTC. Now I am. I had a high stress job which I quit to control SOMETHING in my life. So job related stress is out of the picture. But stresses of other kinds come and go. 
  • Lining: Normal - good. 
  • Karyotype: Normal 
  • Additional testing : Normal - the only thing that came back was that I am "heterozygous for variant 677C>T" on my MTHFR test. (For this I've been on Folgard as well as Baby Aspirin and on Lovenox shots once I got my BFP - very aggressive for a heterozygous result, but hey, we'll do whatever it takes)
  • Treatment: 6 clomid cycles, 5 IUI with injectables, 4 IVF's so far. 
  • Response to medication: Appropriate - my 4 IVF responses with my age:
  1. IVF 1 - Age 34: 29 eggs retrieved
  2. IVF 2 - Age 36: 17 eggs retrieved
  3. IVF 3 - Age 37: 14 eggs retrieved
  4. IVF 4 - Age 37: 17 eggs retrieved
  • Losses: 1 miscarriage (missed m/c), 1 chemical, 1 ectopic. These are recorded. Now as I think back, I think I may have had more losses. I have not so far had a natural loss that has been medically recorded. However, I have read enough about the symptoms and signs, and I can very clearly remember at least 3 times in the past having exactly the same symptoms. For sure. So maybe multiple losses? 2 of those times I called the above-mentioned OBGYN. His response "It may be strange for you, but as a Doctor I have seen several such cases. You're fine. Just take some Motrin or Advil and you'll be ok". So I'll never know if I WAS miscarrying then or what....
Let's take DH now:
  • Semen Analysis: All good. Count, motility, morphology - all good.
  • Karyotype: Balanced translocation  (46,XY,t(11;22)(q23.3;q11.2)
We've been doing PGD on our embryos to select balanced or normal embryos for transfer. We've noticed a 90% unbalanced rate in our case. We have, however only been checking for the particular translocation. We have decided not to check for other issues right now. 

I think it's harder when the translocation carrier is the male, because then it is just a matter of numbers. 

Meaning - lets take, say 10 eggs, and 1 million sperm. If the female had the translocation, and had a 90% unbalanced rate, then 1 egg is good (on average) and chances are, that egg will fertilize ok (given all else is well). 
If the male has the translocation, and a 90% unbalanced rate, given 1 million sperm, 900,000 are unbalanced, and 100,000 are good / balanced. Now the chances of 10 of those sperms to come from the good batch vs the bad batch? You do the math. And then these 10 have to fertilize the 10 eggs :-)

We've been reading and researching on Balanced Translocations, and it seems like a balanced translocation is not an easy issue to deal with. Firstly there is the issue of the embryo being chromosomally not proper. Then there are chances that embryos formed from a carrier of BT have a higher disposition for aneuploidy! We've not been checking that at all! Here is a publication of a small study:

http://ohsufertility.com/Papers/pgd%20balanced%20translocation.pdf

Now what? Now we're not sure. Where do we go from here? Here is what confuses us:

  • One miscarriage - the test results came back normal for chromosomes of the baby. Then why did I miscarry?
  • One chemical - That is chance, and 30% of the world's population has chemical pregnancies without ever being aware of it.
  • One ectopic - Chance again? 
Do we have a diagnosis now? I don't know yet. I don't know what else we're going to find out still. I don't know where we're headed after this!

1 comment:

Jackie. said...

You sound so frustrated. I am so sorry about all that you have been through.