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My story isn't your typical infertility story. We came to IVF due to a genetic disease for which I am a carrier. It is X-linked, and therefore boys are affected, while girls are carriers. Unfortunately in my situation, my disease (diagnosed at age 23, but present since birth) is so severe that I am treated as a patient not just a carrier. I routinely see doctors at the National Institute of Health, who told me at the age of 25 that I should probably forego having children; since my case is so severe, it was likely any affected children would also have a severe case. For a boy, a severe case can mean death by the age of 2. And so, since the age of 23, I always pictured motherhood as likely being an experience of having a sickly child who I very well could lose. I prepared myself for that, but I still hung onto the idea that I would have a girl and a boy, two years apart. I just had to realize that there was a good possibility that they wouldn’t be healthy, and that I might only have them for a short time. And so my future outlook altered.
At the age of 27, I heard about PGD. Pre-implantation genetic diagnosis is a procedure wherein an embryo can be tested for a variety of genetic issues. My disease is caused by a single gene, and the lab we choose had been successful with my particular disease in the past. I was just finishing up my MBA, and we had planned to start trying to conceive thereafter. It seemed meant to be that somebody told me, unsolicited, about this procedure which could allow me to have a healthy child. We reviewed our finances and our insurance and determined we could swing it if we maxed out our FSA and took out a loan. We felt like it was God’s way of leading us, for this option to be brought to our attention and for us to have the financial means to pursue it. Future outlook alteration number two.
That fall we had our consult with our IVF clinic. We felt comfortable with the RE, and continued on with testing. Everything looked great for me, but my husband had low morph and motility. Luckily for us, ICSI was a part of our plan, since it is recommended if you are doing PGD. It always struck me as ironic though that the two of us ended up together, when apart we may have caused two couples to need to pursue IVF. Of course, we’ll never know if that would have been the case, but I like to think that perhaps we spared two other people that experience.
In January we sent mouth swabs to our PGD lab so they could build a DNA model and isolate the gene responsible for my disease. By March they had it finished, and we were cleared to proceed with IVF. I did my bcp, went through my Lupron, and started stimming at the end of May. Unfortunately, my E2 grew at a faster clip than my follicles, and by day 9 my retrieval was canceled due to risk of OHSS. I was disappointed to be out the money for the prescriptions and the time. Arrogant me, I had really expected to be pregnant by then, but now we would have to wait a month before we could start the process over. We decided to use that time to go on a long camping trip in the Boundary Waters Canoe Area. It was difficult, but cleansing, and in July we were ready to start again, a little refreshed.
We started the cycle again. I remember a work event out on a boat. I didn’t drink because I was stimming, and told people it was because of a medication I was on that couldn’t be mixed with alcohol. Only my managers knew what was really going on, and that was only because I was coming in late everyday from the follicle monitoring. My evening shot of Follistim was at 7pm. I shot myself up on that boat in its little tiny bathroom hoping we didn’t hit a big wave. I spent A LOT of time on IVFC forums going over every detail as I lived it, trying to analyze what it all meant.
This time my medications were lower, and I did not overstim. We were able to get a lot of eggs, but with PGD, there is a lot of attrition. My retrieval produced 26 eggs. 23 fertilized. Of those, 13 made it to day three for the cell extraction for PGD testing. Of those 13, only 11 had genetic material, and of 11, only 2 did not have the gene. So much for a 50% chance of passing it on. We went from 23 embryos to 2. But they were both hatching, and we transferred them both, leaving none to freeze.
I knew it had worked before my beta. I started getting nauseous from smells less than a week after transfer. My beta confirmed it, and the number was high. We thought we would have twins, and we were thrilled. We both wanted two children after all. At u/s we discovered it was just one, but a strong healthy one; we were still thrilled. I was only 28, we figured we’d have plenty of time for a number two down the road.
