Mission: PGD; Status: Step 1 Complete!

Hurray! I made the first phone call to the Reproductive Genetics Institute in Chicago. :) I called on Thursday, 18th October, and left a message. It kind of worried me that they didn't answer and that I had to leave a message, but I quelled my fears. A woman named Dana called me back the next day, on Friday, 19th October, but I missed her call and she left a message her phone number to call her back. So today, Monday, 22nd October, I returned Dana's call and we had a great conversation as to the first steps and timeline for setting up our PGD.

I looked her up after the call, but they don't have that much info on their website about their staff, although they have a lot about their physicians. I only found her full name and that she's an M.S. in the department of Clinical/Molecular Genetics. Not that it matters that much, I just like to know who I'm talking to. I was so happy with the way the call went! She was the first staff member or doctor who actually knew what IP was immediately (usually I get the "Hmm, interesting...Yes, I"ll have to look that up" response), and actually knew everything about it, too. She was very organized, clear, and nice, too, and I felt very comfortable talking with her. When she said she'd call me back after a certain point, I really felt like she would call back, too, and in a timely manner, which was reassuring.

There is, however, some very scary news. I'm surprised I'm not crying right now, but I guess the phone call just went so smoothly with Dana that I actually feel okay. We might not be able to do PGD for our next pregnancy. Apparently, IP is a little more complicated than most other genetic disorders that PGD can be done for. It depends on the specific mutation that I have, and also whether we can get a sample from a relative or not, so they can be certain of the familial mutation, or get my CVS sample. This of course makes me very scared. If we can't do PGD, then we'll have no choice but to try again naturally and risk another miscarriage/termination. Each miscarriage a woman has increases her risk of having another one with future pregnancies, so this is really disturbing news to me. Of course I have to have the rarest, weirdest genetic disorder! But, there's no use worrying about it now. Hopefully it'll be alright and we'll have a go for the PGD.

Here is some advice for those of you with a genetic disorder, especially if you have an unusual one like me - if you're trying naturally before trying the PGD and you have a miscarriage, make sure you call the PGD center immediately and see if they need a sample from the baby! It never occurred to me that we would need my CVS sample for my next pregnancy, but that might just be the determining factor for whether we can do a PGD now, or whether we have to risk another miscarriage. I just have to hope that they haven't thrown it away yet. It's a good thing I'm planning now!

Dana said she needs 3 things from me now:

1. My IP genetic report
2. My CVS report
3. My genetic counselor's contact info.

Once she has this information, she'll see if she can get my CVS sample (if they haven't thrown it out), look at my mutation, and determine whether or not we need to get my mother tested. We don't know whether my mother has IP or not, but I don't have any blood sisters so she is our only option. I contacted my maternal-fetal medicine office and they should have faxed the 3 things Dana needed by now, so all I have to do now is wait.

She told me that the institute they work with in Seattle is the Washington Center of Reproductive Medicine, Dr. James Kustin. However, since we're planning to go to Chicago for the actual procedure, I might just be seeing a normal OB/GYN. We'll have to see. I believe this was the "one guy at Overlake, just doing his thing" that I researched before, however after checking out their website he actually looks much better than I originally thought. They are willing to work with anyone, there was no pressure to go to Dr. Kustin, but I'm fine with seeing whoever they usually work with since I think smooth operations is the most essential thing. The center here won't be doing the actual IVF/PGD anyway.

I'm SO glad we decided to go with RGI (Reproductive Genetics Institute) in Chicago! It really makes a difference that they have the experience with my specific disorder! If we had gone with someone else, we might have wasted so much time before they suddenly told us, "Oh, I don't think we can do it...". Or worse, they might have just used standard procedure and not found out until they were actually looking at my egg's DNA that that couldn't figure out which ones were good and which were affected! We definitely made the right decision.

Plan A failed, back to Plan PGD

Well, we tried our luck naturally, and our luck failed us. I became pregnant through temping, we did the CVS test at 10 weeks, and our babies died at 12 weeks (it was spontaneous twins). The results from our CVS test showed that they were boys and they did have IP. At least it happened naturally and we were spared the pain of having to terminate, although we had the very unexpected additional pain of it having been twins.

So, we're back to the PGD plan, for sure this time. We're taking a four cycle break, one for each month of pregnancy plus one for it having been twins, so we'll be doing the PGD procedure probably in February. There is at least some good news - except for IP, I was having a normal, healthy pregnancy. With our CVS they also tested for all the chromosomal disorders, which all came back negative, so as long as we screen out IP, I should be able to have a healthy pregnancy this next time with our PGD.

I'm a bit worried now though about the increased chance of having twins or even higher multiples with the IVF procedure. The risk didn't seem that real before, but after conceiving twins naturally, now it seems like a high probability. I know it's our decision how many normal embryos we transfer back in the IVF, so we will definitely take this decision more seriously now. We've already decided that if we get triplets, we will reduce to twins, but twins we will keep. I know from experience now that a twin pregnancy is difficult, and much more than eating 300 more calories a day. So we will plan for this possibility too now.