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 :]

October = Pumpkin Patch Time!

Happy fall! Since (mostly) recovering from our nasty bouts of sickness, we've tried to get out when we have a chance and do some fun stuff :]

One of the most fun things we did a couple of weekends ago was visiting a pumpkin patch up in Farmington. Entry was free (fantastic for young families like us with short attention spans lol), and you even got to push your own wheelbarrow around to haul around pumpkins. That really turned into hauling a toddler around in the wheelbarrow, but hey, he enjoyed it so it was well worth it. The pumpkins were only 29 cents a pound, which wasn't much more than the stores at the time, so we escaped with five smaller pumpkins for under 10 dollars. Big win in my book. We were only going to get four pumpkins (one per person), but Jayson got really attached to a little baby pumpkin he saw on the way out, and didn't want to let it go. Since it was little and cheap, we went with it. But enough talk, here are some of the pictures I took:

The boys enjoying the nice weather at the pumpkin patch--5 pm was a good time to go on the weekend!

Jayson also enjoyed pushing around the wheelbarrow, as opposed to just sitting in it. It was practically as big as him though, so it didn't last for very long.

Three of our five pumpkins. I believe Jayson was excitedly pointing at a giant pumpkin in this picture.

Jayson and Max posing for a picture. I don't think Max has quite figured out how to smile on command haha.

Jayson and I being a farmer; just proof that I actually tagged along on this expedition!

 I'm not sure what type of strange gourd this was, but Max seems just as confused as Sam was to its name.....

Max didn't help us pick out any of our final five pumpkins (he's just not strong enough to pick them up yet) but he did enjoy getting to explore the mini-pumpkins since he could hold them all by himself. Ultimately, he preferred to chuck them on the ground, but hey, he at least had a chance.

We've also visited the zoo several times, but I will have to post those pictures once I figure out how to get them off of my new phone and onto the computer. We are going to attempt to take some family pictures this weekend as well, so hopefully in the next couple of weeks I will have some of those to show off as well :]

P.S. On October 3rd, I had my blood drawn to be sent out for CSID genetic testing. We are eagerly awaiting the results to come back (but will probably have to be patient for at least another week) and I will most definitely post about that when I know!

Looking Back: Sickness Follows Us EVERYWHERE!

Getting hopelessly behind here.....so we are going to slam 1.5 months into one post...........sounds good right? Really though, the only exciting things I can think of that have happened to us since then are primarily sicknesses. So enjoy the read, and be glad you weren't us!

Mid-End August
The boys had seriously only logged a couple of days in daycare before we got our first nasty bug. On Wednesday when Sam picked up Max, they said he had thrown up a little earlier in the day. I figured that they were talking about a large amount of spit-up since no one at the daycare seemed to be concerned enough to call us when it happened. Later that evening, as I was holding Max and bouncing him on the counter, he had the biggest baddest nastiest throw up ever. I felt awful for him (and almost as bad for me, because I was totally covered in butternut squash/soy formula throw up). But it only seemed to be a one time thing, and he was his happy self the next day, so we sent him off to daycare. We were being so naive. Not only did he throw up a few more times that day, he started having awful diarrhea...like even worse than uncontrolled CSID diarrhea. It wasn't contained by any diaper ever invented, and smelled like rotten eggs gone all wrong. Max was still drinking his bottles, but I'm pretty sure everything was running through him from one end or the other. It was terrible.

On Saturday (something like three days later) Max was still pretty sick. My sister, who hadn't seen him in days, happened to drop by, and mentioned that it looked like he had lost some weight. At this point, Sam and I figured we would just all go in as a family to Primary Children's and get Max checked out. No sooner had we decided this than Jayson totally barfed up his breakfast. Now we were two for two. So I took Max up to Primary Children's all by myself--that kid wore me out! For a sick baby, he was sure interested in being mobile....it made for a long five hour experience in a small ER room. To make a very long experience short, they ended up admitting him to the recovery unit for the night. He had to get an IV because he needed to get/keep in some fluids so his little body could heal. It was so sad to see my little baby with a needle in his hand, but I knew it was necessary. The worst part of the whole experience was that he couldn't eat through the night because they wanted his gut to get a break. And I just can't swaddle him the way Sam does, so he lacked that comfort too. It made for a long night with not enough sleep. I was very excited when they let him start eating that next morning, and especially when they decided we could go home around 11:30. He had stopped throwing up, and the diarrhea had lessened. What I didn't know was that the diarrhea was quite lingering, and wouldn't go away for several more days. But one day, about a week after the illness, he was just magically all better. That was seriously a fantastic day.

I thought after Max's ER experience that we were over the worst of it. Unfortunately, Jayson took a turn for the worse on Monday evening, and I ended up dragging him into the ER around 10 pm after I got off work. (Poor Sam, this was all on his birthday!) By this point I was feeling like a pro with this stomach virus, and the doctor recognized me from a few days ago, so we both agreed to just go the IV route. I was SO proud of Jayson--he didn't even flinch or cry when they put in the needle (they even had to move it around a bit to get in the vein). When the labs came back, they showed he was quite dehydrated like Max was, so we stayed in the recovery unit overnight. The actual night wasn't so bad, because once we got into our room, he slept through it. But right at 7 am sharp, he was awake, and so ready to be off the IV. We did several wagon ride trips and played with big boy legos to distract him, until the doctor came around and said he'd probably be good to go home. His sickness was about a day shorter than Max's in duration, but it still seriously felt like forever.

The ER doctor theorized that the boys picked up a mutation of rotavirus that had been going around, and I'm sure it was from daycare. All I have to say is thank goodness for immunizations to the common strain of rotavirus, because it would totally stink to have that around all the time! Sam got a little bit sick from this weird illness in the long run, but it totally passed me over. This may very well be the only occasion I can ever remember in which my family got sick and I didn't!!

Early-Mid September
I'd say we had a week of general healthiness before Sam got a terrible cold. Sam doesn't usually get sick, so this is saying something. It was so bad that he lost his voice for about four days. Probably because he had such a hideous cough! Max totally picked up on the hideous cough thing too. Especially at night. Oh man, it was a drag every time Max coughed so hard that he puked all over his pajamas and crib sheets. It was sad for him, and way not fun for us to clean up (particularly when Jayson tried to help out with the cleaning). I was sick with all the fun colored mucus stuff (and still am), but no terrible cough, to which I have been incredibly grateful. Jayson seems to only have a slightly runny nose, which is great all things considered. As I learned with our last illness, two kids really sick at the same time is CRAZY, so it was nice to only have one down for the count this time. May you all avoid this cold, because it is the longest lasting thing I have ever seen. Almost one month out we still haven't entirely kicked it.

Mid-End September
My sister's moving date to Idaho was Saturday, September 20th. My main job in this was to watch the 7 kids the Friday night before, so the boys could move the Penske up that night and Autumn could clean the old house. Plus, I had make the five hour drive up there the next day to fetch my husband and check out their new house/town. This was a daunting task after 10 hours of work anyway, but then sickness made it way worse. My eyes had been burning all day (Friday) at work, and I thought it was just because I was really sleepy. Oh no. My right eye just kept hurting more and more as the day wore on. I went to bed around 11 pm and woke up with Max about 1:30 am. In that short 2 and a half hour time window, my eye made so much goop that it had sealed itself shut. Pinkeye had struck. I'd seriously never had pinkeye in my life before, so the timing was hideous! I had to drag myself down to St. Mark's ER at 2 in the morning so I could get a prescription for eye drops. Then I had to drive to a 24 hour Walgreens pharmacy at 3:30 in the morning to obtain said eye drops. 70 dollars later, I had what I needed.

I crawled back into bed around 4:30 with my cranky toddler (I still don't know why in the heck he thought it was time to wake up when I got home) and crashed until 7 am. Then I got two kids and myself ready, threw together our bags in a frantic hurry, and hit the road by 8:45. You can call me wonder woman now LOL :] Thank goodness my eye remained open enough (and not in terrible pain) so that I could safely make the drive. But man, I hope I never get pinkeye again, it was a nasty experience!

And just when I thought we couldn't get any sicker, we found a weird rash all over Jayson's bum, legs, feet, and hands on Sunday afternoon. It was really the last thing I wanted to see. I'm thinking hand/foot/mouth disease. Hoping he doesn't spread it to all his friends at daycare. At least it isn't bothering him all that much.......

Just for fun, since the post was so full of depressing stuff, here's a super funny picture of my kids being bad children/playing in the kitchen stuff--seriously, Jayson knows way better, and is already trying to teach Max how to misbehave!

Illness Update: Sam's cold is almost gone, hurray! Max is still trying to kick the nasty cough, but it hasn't made him throw up in like a week. Now we are just dealing with two teeth trying to come in lol. My pinkeye is getting better, and my cold hasn't gotten worse. Jayson's rash hasn't gotten worse since we discovered it, and his nose isn't any runnier either. Here's to hoping October is healthier for us!!!