Okay, so the title of this post probably makes it sound WAY cooler than it actually is.....but I was kind of going for eye-catching. And it's technically true, even if the phrase is beefed up.
As you may have guessed, last week we got the results for the CSID genetic blood test that Max had done, back when they took tissue samples during the endoscopy. I was kind of on the fence about getting the genetic blood test done--after all, the enzyme level test would tell us whether he had CSID or not--but my nerdy genetic side won out. I just really wanted to know exactly what mutations he was walking around with(and subsequently what Sam and I at least carry). Plus, it was going to be a great time, when he was already asleep and it wouldn't hurt him at all. To put icing on the cake, the insurance agreed to cover its usual 80/20, even though there is only one lab in the US (Washington University Labs) that does the test.
Sold. And totally glad that we did. I must have done research on the results for a good hour after I read the report, trying to put some puzzle pieces together. It tickled me pink that I could put five years of a science degree and my boring molecular biology class to good use. Here's what I found out (hopefully in non-scary, easy to understand language):
The mutation for CSID lies on chromosome three, in the SI (Sucrase-Isomaltase) domain (area). It is approximately 1800 proteins long, which really isn't super big in the scheme of our whole genetic makeup. The first 1000 or so proteins are the isomaltase domain, and the last 800 belong to the sucrase domain. While the isomaltase domain is larger, there tend to be more mutations on the sucrase domain. As of 2011, I believe there were some 25 different mutations discovered in CSID--I'm guessing the number is a bit bigger now. The majority of these are missense issues with the protein.
That last sentence probably doesn't sound like English if you've never taken molecular biology, I know.....so time for a simplified biology lesson! Basically, every protein is composed of three different amino acids (which is why you will often hear amino acids referred to as the building blocks of proteins). There are four different amino acids, which each have their own "letter" (think of it as a nickname): adenine (A), tyrosine (T), cytosine (C), and guanine (G). If you do the math/chemistry--and thankfully somebody else already did it for me a long time ago--you can pair that "four amino acids in a set of three" combination 21 different ways. If you are doubting my math skills because you were crazy enough to do that algorithm, I will tell you that each protein has at least three different amino acid combinations that it can be coded for. So, you should just take my word for it.
Anyway, 21 different proteins can assort themselves in any order that they choose to make a domain (area) of genetic code, like the SI region I was mentioning earlier. As you can imagine, every once in a while the human body makes a mistake and sticks an incorrect amino acid "letter" into a protein. I won't even go into how our bodies assemble them and how the mistakes can happen, cause it's ridiculously complicated, but just know that mistakes happen. When one letter is mistakenly exchanged for another it is called a missense mutation in the biology world, like I was mentioning earlier. Some mistakes don't change the protein at all (because as I mentioned earlier there is more than one way to combine amino acids to code for the same protein), some change the protein but not the overall functioning of the domain (lucky pass!), and some mistakes change the function of the domain altogether (like in my boys with their sucrase and isomaltase enzyme activity level).
Okay, enough of the complicated stuff, sorry to put you all through that. As I mentioned earlier, there are 20-some known mutations that cause CSID. As the good laboratorians at Washington University tested more and more people, they realized there were 4 mutations that kept commonly popping up in people diagnosed with CSID. Of these, Max carries one gene for the third most common mutation, which shows up in approximately 7% of CSID patients. It is on the sucrase domain, in position 1745, and the letter G is replaced with T, which changes that particular protein from Cysteine to Phenylalanie. Not a good change as my boys can tell you! Okay, Max can't exactly talk yet, but that's beside the point. I think this is the mutation that Sam carries. Sam has always had more issues with sugar than I have, and seeing as this particular mutation is on the sucrase domain, it would make sense.
The other mutation Max has is on the isomaltase domain in position 975, and the letter C is replaced with T, which changes that particular protein from Histidine to Tyrosine. And here's where the title of my blog post comes into play.......it is a mutation which hasn't been discovered before. Ever. Kudos to us for being weird enough to breed that lol. Actually, I guess the real kudos go to whoever originated the mutation. I suspect Max inherited this mutation from yours truly--I don't tolerate starch all that fabulously the more I think about it--, and if that's true, I'd bet this one came from my daddy (if I actually have CSID anyways....if I only carry it I change my vote to my mom). Beyond there it beats me. But thanks long gone ancestors for throwing this one out there.
Obviously to prove any of my theories about who carries what, Sam and I will both have to have the genetic testing done as well. Once again, the nerdy side of me is kind of stoked. However, the practical side of me (and probably Sam) is a bit leary. What if one of us actually has CSID? Or worse, what if we both do? We have two children with CSID, and we love them to tears, but it's not exactly something you want to just keep passing on. It's expensive to keep up with, and a real social misery. If we are both carriers, there's just a 25% chance of passing it to each child. If one of us has it and the other carries, that goes up to 50%. And obviously if we both have it, all of our kids will have it. And before you say "Well wouldn't you know if you had CSID since it was so obvious with your kids?" let me just say no. If you've lived your whole life with things a certain way, it doesn't seem so odd after a while. And every person is symptomatically different, I believe due to the combination of mutation(s) you carry.
If we do have CSID after all, do we change the way we eat and ultimately feel better, or continue to enjoy the foods we've been eating for years and just suffer on? Because I've got news for you--my toddler might not know that coconut flour bread makes kinda gross sandwich bread in comparison to regular flour, but I sure do. And honestly I really love a good piece of fruit when the urge strikes (although I guess Sucraid could assist with that). So many things to weigh out.
Last interesting thought. I've often wondered why a lot of other people's kids have more tolerance to starches in CSID than Jayson has ever seemed to. I'm starting to think a lot of people who have CSID just possess mutations on the sucrase domain. While it obviously doesn't protect you entirely from starch intolerance, I think having a mutation on the isomaltase domain gives you much less starch tolerance, and much less chance to ever build more tolerance. All my theoies people, but they do make logical sense.
Monday, June 24, 2013
Wednesday, June 19, 2013
Father's Day 2013
Father's Day this year was almost an epic fail on my part. I am apparently not a good planner after having surgery and being busy with work. As of the day before Father's Day I had nothing for Sam. I started to panic, but at the last minute decided to go to Costco and get him what he really wanted: the Samsung Galaxy Note 8.0. I may or may not have almost cried in the checkout line after spending so much money, but I really love my wonderful husband and wanted to totally surprise him for his special day. Plus I wanted to get him something that reflected how much I appreciate all of the wonderful things he does for our family. I don't think I could even begin to say how great Sam is with our kids, and how much he pitches in when I am not around/at work. It really doesn't get better than him :]
Anyway, on Father's Day first we went to church and taught our primary class--well Sam taught and I tried to keep the kids in line. It didn't go too badly lol. We got to walk home with the kids in the stroller, which was actually quite enjoyable, considering it was kinda hot outside. Once we put Max down for a nap and fed Jayson lunch, I went and put Sam's tablet in a giant Christmas bag and hid it in a bunch of tissue paper. Then I had Jayson drag out the gift bag to give to Sam. It was pretty hilarious if I do say so myself :] Of course, Sam was totally psyched to get his new tablet, and very much enjoyed getting to set it up once Jayson napped too. Later on that evening, we went over to my sister's house and all the grown ups had Costa Vida in celebration of the dads. Guess I managed to save Father's Day after all, thank goodness!
I couldn't let my Father's Day post go by without mentioning my own father and father-in-law. As a child my dad was the biggest kid ever, which made him so much fun to do things with! I honestly have the fondest memories of going to the local arcade, riding bikes all around town, and getting ice cream with my dad. He was always up for anything I wanted to do--even though it became increasingly shopping related as I got older lol. My father-in-law has also been a great example to me for the past four years, and I have really appreciated the sound advice he has given to Sam and I as we have had to navigate finances and whatnot in marriage. Both of these great men are wonderful to my boys when they come visit, and I am glad that their grandpas are good examples for them.
My three boys :]
Anyway, on Father's Day first we went to church and taught our primary class--well Sam taught and I tried to keep the kids in line. It didn't go too badly lol. We got to walk home with the kids in the stroller, which was actually quite enjoyable, considering it was kinda hot outside. Once we put Max down for a nap and fed Jayson lunch, I went and put Sam's tablet in a giant Christmas bag and hid it in a bunch of tissue paper. Then I had Jayson drag out the gift bag to give to Sam. It was pretty hilarious if I do say so myself :] Of course, Sam was totally psyched to get his new tablet, and very much enjoyed getting to set it up once Jayson napped too. Later on that evening, we went over to my sister's house and all the grown ups had Costa Vida in celebration of the dads. Guess I managed to save Father's Day after all, thank goodness!
I couldn't let my Father's Day post go by without mentioning my own father and father-in-law. As a child my dad was the biggest kid ever, which made him so much fun to do things with! I honestly have the fondest memories of going to the local arcade, riding bikes all around town, and getting ice cream with my dad. He was always up for anything I wanted to do--even though it became increasingly shopping related as I got older lol. My father-in-law has also been a great example to me for the past four years, and I have really appreciated the sound advice he has given to Sam and I as we have had to navigate finances and whatnot in marriage. Both of these great men are wonderful to my boys when they come visit, and I am glad that their grandpas are good examples for them.
Sinus Surgery 101
Long overdue blog post I know.....I honestly thought I'd have more time to blog when I was recovering from surgery, but I was either sleeping like crazy, too tired, and/or too busy watching my kids and getting back to normal life. I know, no big surprise, but I really had no idea what to expect in terms of recovery seeing as I'd never had surgery before.
On the day of my surgery we got to the surgical center about 9 am. They took me back for my surgery right around 11, so it was two hours of me being really nervous and waiting (I just didn't really know what to expect). You'd think after getting an IV three other times in my life I wouldn't be nervous about that, but I was. And every other little thing too. Like even when they put the "relaxing medicine" in my IV before taking me back to surgery, I was freaking out that I would have some kind of bad reaction to it or something. Not so, but it really didn't do a heck of a lot to relax me. I remember going into the operating room and thinking it was really weird that they had egg-crate looking stuff in some of the cupboards; I was expecting more of a sterile OR style room I guess. I remember moving from my bed to the table. I also remember them telling me I was going to have a good nap.....but I don't even remember closing my eyes lol.
Next thing I know someone is asking me how my pain is. All I could think to say was "my throat" because it hurt (probably from being intubated). As the guy fed me an ice chip, I asked if the doctor had to break my nose, and they confirmed the answer I thought I already knew--yes. Then I noticed that the headache and sinus pain that I had felt right up until my surgery was gone, and decided it was worth it!! Then I fell asleep again (you'll hear that phrase a lot haha). The next thing I remember is something painful being injected into my IV (pretty sure that was an anti-nausea med). Then, you guessed it, I fell asleep again. Finally I was able to keep my eyes peeled open for more than five seconds, and noticed Sam was there with me. I decided anesthesia was a really powerful thing, since I didn't even notice being transported to the recovery area where Sam was.
A little while after that, the doctor came in and explained what he had done in surgery. They cleaned out my yucky sinuses, had to break my nose halfway through due to a bone spurr that got in the way of their instrumentation, and ballooned open my forehead area sinuses. I tried really hard to stay awake and alert during his whole explanation, but I'm pretty sure I was in and out of it. I think the recovery nurse encouraged me to eat and drink a little bit, but the cracker and juice I had weren't very appealing. I just was not hungry one little bit. Then they wanted me to try and get dressed. I tried to stand up, but Sam had to help me put on my clothes because I was so unsteady and tired. Plus I felt really sick to my stomach, so I decided to lay back down and sleep some more. I think we finally left the surgery center around 3:45, and I slept the entire way home.
The next 24-48 hours were pretty rough. The pain wasn't so terribly horrible (probably thanks to the Percoset I was taking), but the nausea sure was. I threw up blood (and who knows what other goo from surgery) a handful of times--you really take for granted how your nose works until everything from it is draining down your stomach. So gross. I don't think I ate or drank hardly anything during that time period. And I slept a TON. Percoset makes me really drowsy. Then after the 48 hours my nose started drying up a ton and that was kind uncomfortable. It kept getting worse as the bleeding slowed, until I got the splints out of my nose a week after surgery. Now there's another gross experience that was uncomfortable, but SO worth it. It was like breathing for the first time after they were gone!
It's been two weeks since my surgery, and I definitely don't regret it. However, I wish I would have known that there would be so much bleeding for quite a while, and that I get really stomach sick if I take Percoset without eating. Oh and that I was going to be so tired for the first week. But hey, guess I know now. Luckily everyone was very nice at work and took my shifts that I ended up not being able to do (instead I was watching my kids and trying to gather up energy). I have one more post-op appointment on Monday that I'm not really looking forward to, where they numb me and go up and do a last check on the sinuses/remove any scabbing or packing left. Ugh. But I bet I will feel even better after that ultimately. And once I kick the cold I've picked up, I will know just how good the surgery was for me :]
On the day of my surgery we got to the surgical center about 9 am. They took me back for my surgery right around 11, so it was two hours of me being really nervous and waiting (I just didn't really know what to expect). You'd think after getting an IV three other times in my life I wouldn't be nervous about that, but I was. And every other little thing too. Like even when they put the "relaxing medicine" in my IV before taking me back to surgery, I was freaking out that I would have some kind of bad reaction to it or something. Not so, but it really didn't do a heck of a lot to relax me. I remember going into the operating room and thinking it was really weird that they had egg-crate looking stuff in some of the cupboards; I was expecting more of a sterile OR style room I guess. I remember moving from my bed to the table. I also remember them telling me I was going to have a good nap.....but I don't even remember closing my eyes lol.
Next thing I know someone is asking me how my pain is. All I could think to say was "my throat" because it hurt (probably from being intubated). As the guy fed me an ice chip, I asked if the doctor had to break my nose, and they confirmed the answer I thought I already knew--yes. Then I noticed that the headache and sinus pain that I had felt right up until my surgery was gone, and decided it was worth it!! Then I fell asleep again (you'll hear that phrase a lot haha). The next thing I remember is something painful being injected into my IV (pretty sure that was an anti-nausea med). Then, you guessed it, I fell asleep again. Finally I was able to keep my eyes peeled open for more than five seconds, and noticed Sam was there with me. I decided anesthesia was a really powerful thing, since I didn't even notice being transported to the recovery area where Sam was.
A little while after that, the doctor came in and explained what he had done in surgery. They cleaned out my yucky sinuses, had to break my nose halfway through due to a bone spurr that got in the way of their instrumentation, and ballooned open my forehead area sinuses. I tried really hard to stay awake and alert during his whole explanation, but I'm pretty sure I was in and out of it. I think the recovery nurse encouraged me to eat and drink a little bit, but the cracker and juice I had weren't very appealing. I just was not hungry one little bit. Then they wanted me to try and get dressed. I tried to stand up, but Sam had to help me put on my clothes because I was so unsteady and tired. Plus I felt really sick to my stomach, so I decided to lay back down and sleep some more. I think we finally left the surgery center around 3:45, and I slept the entire way home.
The next 24-48 hours were pretty rough. The pain wasn't so terribly horrible (probably thanks to the Percoset I was taking), but the nausea sure was. I threw up blood (and who knows what other goo from surgery) a handful of times--you really take for granted how your nose works until everything from it is draining down your stomach. So gross. I don't think I ate or drank hardly anything during that time period. And I slept a TON. Percoset makes me really drowsy. Then after the 48 hours my nose started drying up a ton and that was kind uncomfortable. It kept getting worse as the bleeding slowed, until I got the splints out of my nose a week after surgery. Now there's another gross experience that was uncomfortable, but SO worth it. It was like breathing for the first time after they were gone!
It's been two weeks since my surgery, and I definitely don't regret it. However, I wish I would have known that there would be so much bleeding for quite a while, and that I get really stomach sick if I take Percoset without eating. Oh and that I was going to be so tired for the first week. But hey, guess I know now. Luckily everyone was very nice at work and took my shifts that I ended up not being able to do (instead I was watching my kids and trying to gather up energy). I have one more post-op appointment on Monday that I'm not really looking forward to, where they numb me and go up and do a last check on the sinuses/remove any scabbing or packing left. Ugh. But I bet I will feel even better after that ultimately. And once I kick the cold I've picked up, I will know just how good the surgery was for me :]
Monday, June 3, 2013
Biopsy Results
I've been a slacker about writing this post, seeing as our GI doctor called us last Wednesday with Max's biopsy results....but it was a busy week at work and definitely a busy weekend at home.
Anyway, last Wednesday Dr. Patel called me around noon, and asked if I was ready for a surprise. All I could say was "Oh no...." as I thought that maybe he was going to tell me that Max didn't have CSID and we were dealing with some other crazy issue! Thankfully he said "Just kidding, it's really not a surprise...." and proceeded to tell me that Max was absolutely textbook CSID. I breathed a sigh of relief then, just because I knew what we were up against 100%. Not that I really had any doubt before, but it's always good to back what you know right? And yes, I was hit with a moment of sadness that Max didn't dodge the bullet of a more dietarily difficult life, but I was at least prepared (unlike when I got the call with Jayson). And now I know for sure that my two boys will be forever bonded--not too many other people are ever going to understand what they go through every time they want to eat something!!
For those of you who are curious, here's a comparison of my boys' enzyme levels. Keep in mind that Max was almost 4 months old, and Jayson was 17 months old. I don't know exactly how much age factors into the equation (it's not like they are really ever going to get massively better) but I do wonder what Jayson's levels would have been at Max's age.....
*Sucrase: Jayson=0, Max=0, Normal=50+
*Palatinase (part of starch digestion): Jayson=0, Max=0, Normal=10+
*Isomaltase: Jayson=33, Max=21, Normal=100+
*Lactase: Jayson=19, Max=13, Normal=15+ (I will note here that Jayson struggles with lactose intolerance despite his "normal" level)
And there you have it. We are oh so curious to see what mutation(s) Max carries for CSID once they process his blood sample, although I don't know if there is a lot of research as to what mutations cause what symptoms in CSID. Maybe that's something that should be tackled next in the CSID world. Not that I need any more projects on my plate, but hey, it would be well worth having it out there in my opinion.
Anyway, last Wednesday Dr. Patel called me around noon, and asked if I was ready for a surprise. All I could say was "Oh no...." as I thought that maybe he was going to tell me that Max didn't have CSID and we were dealing with some other crazy issue! Thankfully he said "Just kidding, it's really not a surprise...." and proceeded to tell me that Max was absolutely textbook CSID. I breathed a sigh of relief then, just because I knew what we were up against 100%. Not that I really had any doubt before, but it's always good to back what you know right? And yes, I was hit with a moment of sadness that Max didn't dodge the bullet of a more dietarily difficult life, but I was at least prepared (unlike when I got the call with Jayson). And now I know for sure that my two boys will be forever bonded--not too many other people are ever going to understand what they go through every time they want to eat something!!
For those of you who are curious, here's a comparison of my boys' enzyme levels. Keep in mind that Max was almost 4 months old, and Jayson was 17 months old. I don't know exactly how much age factors into the equation (it's not like they are really ever going to get massively better) but I do wonder what Jayson's levels would have been at Max's age.....
*Sucrase: Jayson=0, Max=0, Normal=50+
*Palatinase (part of starch digestion): Jayson=0, Max=0, Normal=10+
*Isomaltase: Jayson=33, Max=21, Normal=100+
*Lactase: Jayson=19, Max=13, Normal=15+ (I will note here that Jayson struggles with lactose intolerance despite his "normal" level)
And there you have it. We are oh so curious to see what mutation(s) Max carries for CSID once they process his blood sample, although I don't know if there is a lot of research as to what mutations cause what symptoms in CSID. Maybe that's something that should be tackled next in the CSID world. Not that I need any more projects on my plate, but hey, it would be well worth having it out there in my opinion.
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