What we know so far

Yesterday’s meeting with the genetics counselor was a lot more positive than the cardiologist visit. No panic attacks, no IV’s, no boobs hanging out of a hospital gown. (sorry hubs)

Beyond getting a little taste of the sticker-shock from how expensive the whole process is, and learning that it’s possible my insurance won’t cover jack shit, we learned we have 3 options, which are: donor egg, PGD, or natural. I’ll try explaining them to the best of my ability, but please excuse my lack of correct terms. I’m just repeating what I was told.

1. Using a donor egg. My cousin has offered to donate an egg for years. She’ll have to go through a screening process and then hormone treatments, etc. in order to do so. And, there’s the possibility that she won’t pass the screening … and I’m not fond of the idea of using an unknown donor egg if we have other options to pursue.

2. Pre-Implantation Genetic Diagnosis (PGD). My own eggs would be fertilized in petri dishes and left to mature to the 8-cell stage. At that point, one of the cells would be collected to determine which eggs are carrying the disease, and which aren’t. Healthy eggs would then be implanted in-vitro, which means going through the typical hormone treatments, etc. used for any in-vitro pregnancy. We were told to expect each in-vitro session to cost $10k +, with the PGD treatment costing lord knows what, on top of everything.

3.  Try to get pregnant naturally. Since technically, only 1/2 my eggs carry the Muscular Dystrophy gene, we have a 50/50 chance of having a healthy child without any bells or whistles. Between 10-12 weeks, the embryo would be tested for the disease by Chorionic Villus Sampling. If the embryo carries the disease, we would have to make the decision to medically terminate the pregnancy or continue on, knowing that our child will have Muscular Dystrophy. Also, the sampling test has a miscarriage rate of 1/100 to 1/200, which is also pretty scary. The testing can also be done at 16 weeks via Amniocentesis, but brings about the possibility of medically terminating a fetus that’s reached the second trimester. Obviously, the biggest problem with this situation is my emotional stability and the difficult decisions that might need to be made.

Whatever we decide requires that I have genetic testing done, so that the lab is able to identify the muscular dystrophy gene defect, to later determine whether the embryo carries the similar gene. Unfortunately, there isn’t a 100% guarantee that the genetics testing will be able to identify my defunct gene. Our genetics counselor said that it’s about a 70-80% chance they’ll be able to identify it, but we run the risk of this test getting us absolutely nowhere. And the genetics testing can cost thousands of dollars, unless insurance is willing to cover it.

So right now, our genetics counselor is going to contact my insurance company and see what they’re willing to cover for the testing and for fertility treatments in general. We’re hoping that since we’re trying to be pro-active in preventing a known disease from spreading, they will be more accommodating than if we were just having infertility problems. We should have an answer about the genetics testing by the end of the week.

For now, it’s still a waiting game to figure out what we can afford, what’s covered, and what’s not. And it’s a long conversation to try to figure out what’s the better route for us to take. Personally, I’m kind of leaning towards option #3, even though I know there’s a huge emotional risk attached to it. Both my mom and Ben are worried about me being able to actually terminate a pregnancy when I’ve wanted to be preggo for so long.   And as much as I can say that I think I can handle it, I really won’t know how I’m going to react until we’re faced with making that decision.

Still no word about the heart tests, though. lol

I just wanted to thank you all for all the love, well wishes, and prayers. You guys are awesome; I couldn’t ask for a better bunch of friends.

Tagged as: Baby, Disability, Health