Samantha's Genetic Testing!

I promised that I would write a post about my CSID genetic testing results when I heard back, and I finally got my results on paper today, so here goes the post :]

Back in September, Sam and I met with a genetic counselor here at the hospital where I work, and hence get our insurance through (St. Mark's in Salt Lake City). Her name is Megan, and she has been totally fantastic to work with, I honestly love her to death. At our first appointment, we talked about all of our family history with CSID and about our enzyme biopsy results. We explained our frustrations and why we were interested in genetic counseling. And Megan really listened to us. I felt like she honestly cared about our struggles, and understood why we needed to know our odds of passing on CSID. That was the biggest relief to me, to feel like someone in the medical profession cared and understood about how rotten and tough our lives can be sometimes! It's not that we've worked with real jerks before or anything, but I think sometimes the GI docs can get wrapped up in the clinical and aren't there so much to hold your hand through it all.....ya know?

Megan also did her homework. Before we even walked through the door, she was talking on the phone to the main genetic counselor at the University of Washington (the one lab in the country where they do the genetic testing for CSID) and reviewed with them about our case/enzyme levels/Max's genetic test results. Based on all of that, they were suspicious that I could carry two mutations on one gene (talk about rare!) and Sam potentially not carry anything. While I could never quite swallow the hypothesis that Sam didn't have any mutations, it wasn't the biggest stretch in the world for me to start wondering if I harbored multiple mutations. It would certainly account for why both of our boys came with CSID (the usual odds are 25% each time, and we either totally nailed the bad luck twice or had worse odds). It definitely gave me something to think about. After some time spent mulling things over/fighting the insurance company for coverage, we went ahead and sent out my blood work for analysis at the beginning of October, as I previously mentioned.

On my way into work today, I decided to swing by Megan's office to see if there was any word yet on my test results. I figured it had been about three weeks, and they were probably done by now. I also figured they faxed results over to my GI doctor's office, and as nice as they are, they are terribly slow about getting around to lab result phone calls if you aren't dying. So I stopped by, and Megan gave them a ring. The lady over at University of Washington confirmed they were done, and sent them directly to Megan's fax. So we waited a few minutes, and finally the fax machine kicked out the results. In a way, time seemed to slow down as she pulled the papers off the fax machine. Months of curiosity and waiting were about to be put to an end. I almost wished I was alone to process whatever it would be.......but at the same time, it was good to have a professional there to discuss the next steps. Anyway, here's a picture of the results:

And there you have it. I'm just a carrier. A symptomatic carrier most certainly, but just that. Part of me is relieved, especially because Sam is probably only a carrier too--at least based on his enzyme results. I am hoping that the doctors and genetic counselors think Sam should be drawn too, because I would love a confirmation of that. If we both are just carriers, we really do only stand a 25% chance of another CSID baby. Admittedly, there is a 50% chance of symptomatically carrying CSID, but obviously Sam and I survive on a regular diet with slight modifications just fine. And then there is the glorious 25% chance of producing totally normal CSID free offspring. I'm a little bit sad about the results, only because having CSID would have fit into my hypothesis of why both our boys ended up having CSID. But ultimately it really is good news that I only carry it.

I was surprised that I don't carry the Try975His mutation. That's the mutation Max has that they told us was a never before discovered mutation. I assumed, based on my research, that since it was in the isomaltase domain, it might code for more starch issues. And since I have more starch issues, it would make more sense for that to be my mutation. Plus, the Phe1745Cys mutation is one of the four most common and codes in the sucrose domain, so I assumed that would belong to Sam. But nope, I was once again totally blown out of the water with my hypothesis. Goes to show how you can think you're totally educated and smart about science, and it throws you for a curve! Since it is Sam that has the new mutation (and they hence don't have much of an explanation of how it affects people), I wonder if the reason his enzyme levels are so normal looking is that he possesses an adequate number of enzymes, but is missing out when it comes to transport of the enzyme or something of the like. Just getting into the molecularity there, and could clearly be so wrong with that hypothesis! But it's my current thought LOL.

Anyway, I will keep you updated on where we go from here. And as soon as we get our edited family pictures back, I will throw a few up on here. Be prepared for some serious cuteness from the boys :]