Of MFMs, REIs, and IVF

(Written on Dec. 19th at the Ski Sundown Mountain in New Hartford, CT)

Although AC had planned on going snowboarding in Massachusetts, it wasn't until today that he finally got the chance to do so. The weather was not cooperative, and we were completely unprepared for the storm; with no snow tires or antifreeze and frozen windshield wipers that seemed to make the visibility worse rather than better, it was a miracle we made it in one piece! Numerous cars, police vehicles, and ambulances littered the road as evidence of the treacherous conditions. What should have been an hour's drive ended up taking nearly three hours, but AC was determined to make it to "Ski Sundown" before sundown (actually it was impossible to tell if the sun had already set by the time we arrived, since it had been dark all day!).

Now AC and my father are happily skiing and snowboarding while I'm relaxing here in the ski lodge in a chair by a window, watching big fluffy flakes pour out of the sky. I would almost describe it as peaceful save for the endless cacophony of teenagers surrounding me.

We had our consultation with the MFM (Maternal Fetal Medicine specialist) today at Yale, and wow, what a difference a good doctor makes! After our terrible experience with the REI (Reproductive Endocrinology and Infertility) in Corpus Christi, our meeting with this doctor was a tremendous relief. Although incredibly accomplished, he's completely unassuming and has a pleasant, open manner. Moreover, he's extremely knowledgeable. Perhaps most impressive was that he had actually prepared for our meeting by researching Kartagener's Syndrome, reading my file, and thinking about my case.

After taking down a brief medical and family history, he recommended that we meet with a genetics counselor to discuss our options, even if we choose not to undergo preimplantation genetics. Thankfully my cystic fibrosis genetic test was negative. As for Kartagener's, he said it's unlikely that I received two recessive genes for Kartagener's, one from each parent, as I had long believed. More likely, I received one recessive gene from one parent, which combined with a random, genetic mutation. Apparently, an average of fourteen genetic mutations arise in each generation, which means that, even if AC isn't a carrier for KS, our child could still end up having it.

The question now is, do we do a genetic consult? And more importantly, do we do preimplantation genetics, which is not only very costly, but doesn't even guarantee that the child will be free of the genetic defect the embryo was tested for? My gut feeling is to meet with our REI (the doctor who will be performing the actual IVF cycle) and find out what he thinks.

When I asked about travel during pregnancy, he seemed to think I would be able to travel both by car and plane, as long as I walk around every hour to prevent blood clots from forming in my legs. He also mentioned that pregnancy would start to effect my lungs immediately due to the changes in hormones, and that it's impossible to predict exactly how I'll respond to this "stress test". The good thing is I'm young and relatively healthy. Overall, he was very optimistic that the IVF would work quickly and that I would have a fairly easy pregnancy, although he did reaffirm the importance of a singleton pregnancy. Apparently, IVF increases the risk of identical twins from about 1 in 300 in the general population to about 1 in 100, so even if they implant only one embryo in my uterus, I could still end up with two! I really would prefer not to have to address the issue of a fetal reduction, but I guess I'll cross that bridge when I come to it. Apparently, with IVF, there's also a twofold increase in heart defects, from about 2-3% to 5-6%, and I've also read about slight increases in the risk of other birth defects, like cleft lips and palates. I don't really want to think about these possibilities, but I guess it's better to be informed.

As for the IVF itself, SH has been a busy bee as usual and managed to obtain all the medications I'll need for the cycle for free! She is truly amazing! Despite our differences and issues in the past, I really appreciate everything that she's done for me. Apparently the REI also plans to give us a good deal on the IVF cycle since he's friends with SH, so this may end up costing us less than we had anticipated.

Overall, I'm feeling pretty confident about this whole process. Only a couple of weeks until my first meeting with the REI when hopefully I'll have a much better understanding of what the IVF cycle entails and more to blog about. In case I don't get a chance to post in the next couple of days, have a Happy New Year! I'll be back in 2009!