Start at the Beginning

August 5, 2009

So...I'm not a writer, by any stretch of the imagination. And I don't even know where to begin with this. So, a wise person said, start at the beginning. My husband and I married July 19, 2008 after dating for 3.5 years. Both of us weren't the relationship type, so when we met and continued to date day after month after year, we knew it was something special. However, I was still surprised when he proposed! Our wedding was perfect and after that we settled into a simple and happy life. Flash forward 6 months. Husband, Greg, started talking about kids, stating that he's not getting any younger (he's turning 35 later this month). He goes on to say that he's fine not having children, but if we're going to do it, let's get the show on the road while he's still young enough to play with the kid(s)! I freaked out at the thought of graduating to mom -- I was only 32 (I know, not THAT young!!). After a month or so of arguing about it, we decided that I'd go off the Pill in March and we'll see what happens. We'll that's where the story really starts...

...March comes and goes without anything. April the same...or...maybe not. Things feel a little different, although my monthly friend seems to arrive. Randomly, 12 days after my period at the end of April, I take a HPT and get a BFP!! Rinse and repeat 6 more times, all positive. This is on a Monday. For no reason by Thursday I'm googling miscarriage, and then start spotting Friday morning. Spotting last throughout the weekend so I go to the ER Monday morning. After 7 hours of tests, scans, etc. the found a) that they believe I was miscarrying and the found no sac and 2) that I have a cyst on my one remaining ovary. OH - yes, I only have one ovary, as I lost one when I was 18 to a 9cm dermoid cyst. So, naturally I was devastated to know of the miscarriage and scared to death at the cyst. The next day we find out that my husband & I are both carriers for Tay Sachs. 2 days later we go to the doctor to find out about the cyst. It's another dermoid, 4.5 cm, that they say needs to be surgically removed. In my head:
Option 1: Surgery...crap, will they have to take out my other ovary? Will I be without child and in menopause at 33?
Option 2: Try to do Egg Retrieval prior to surgery to preserve chance of childbearing should something happen during surgery. Doctor said this would be Russian Roulet as needle may pierce cyst and contaminate/kill remaining ovary.
Option 3: Do nothing and go along naturally trying to have children. Doctor said not advisable because cyst my torse and cut off blood supply to ovary, which would equal ovary death.
Doctor says that this surgery is a no brainer for him and he gives it a 98% success rate, removing cyst AND saving ovary.

So I go from girl ambivalent to girl obsessed. Must have child. Must conquer this. Must not sleep until achieved. The last one isn't a goal but rather a side effect...it's been a tiring summer.

We schedule surgery. They say it was a success!! Yay! Now I always fear that I broke my precious ovary or I'm not ovulating, or.... (insert compulsive reproductive fear).

During this time, I had the doctors do some blood work to find causes of miscarriage. I receive a positive ANA and MTHFR results. Results due back next week from Rheumatologist. Could be something or nothing. Smile. That's always an easy answer to comprehend.

Now, onto the next issue. Tay Sachs. Tay Sachs is a chromosomal disorder, so if both parents are carriers, the offspring has a 25% chance of having the disease. In this case, the disease is a certain death by age 4-5.
Option 1: Normal pregnancy and then CVS or Amnio. If they test results are positive for Tay Sachs, abort fetus.
Option 2: In vitro fertilization with Pre-Implantation Genetic Diagnosis or IVF with PGD.

So, with $25K burning a hole in our pocket (she's types sarcastically), we go for Option 2.

We've had our parents get bloodwork done, his dad was a carrier, my mom was a carrier. Our parents need to do DNA cheek swab tests. We need bloodwork. This is all to build our very own special "probe" to test for our specific mutations of Tay Sachs. How will this work you ask? So in the fall, I will be prepped for IVF. Hopefully, my fixed-up, cyst free single ovary will produce some really good eggs, which will be retrieved (aspirated) from me. They will then get to be introduced tph my husband's "contribution." The eggs that get fertilized into embryos will be sent to a lab in New Jersey (I'm in California). The will extract one cell from each embryo and use our probe to test the embryo for Tay Sachs. They will discard the diseased embryo, and we will have a choice to implant or freeze embryos that don't have the mutation at all or are carriers for the mutation.

Some quick math: 2 ovaries with good ovarian reserve can produce roughly 10-20 follicles, with an approximate 40-60% that don't mature for implantation. In my case, my one ovary could have hopefully 5-10 follicles, then I have the 40-50% dropoff, then 1 out of 4 of the remaining could have Tay Sachs. Number of viable embryos for implanting looks to be dwindling...

Thinking on the positive side...
1. Since surgery, which was 8 weeks ago, I've had 2 periods. Things seem to be back in order.
2. I took an ovulation test, and it does seem that I am ovulating.
3. No blood clots during period, which I took as a sign that I wasn't ovulating. Come to find out that's normal! Guess I've had a lot of ovarian cysts messing up what I think is normal.
4. So far, it seems that we don't have fertility issues. More tests results to come confirming that, but I was pregnant within 2 months. That's got to be something good!
5. Have take some blood tests to look for miscarriage causes, all seem to be ok, so miscarriage could've just been a fluke (pretty normal).
6. So far our doctors have been amazing. This all started in mid-May. It's early August and we have a team, a plan, and knowledge!

That's all for now. If anyone has dealt with PGD and IVF with one ovary... let me know!