Sam has decided that his entry into this world was not exciting enough, so he is now throwing us a few curve balls to make things interesting. On Wed. afternoon of this past week, we found out that there was an abnormal result from one of the metabolic tests that the state requires on newborns. We knew there was a possibility of this, and had actually had the state test done twice to see if the first result was an error. It was not. Long story, short, Sam has a high tyrosine level, which could indicate that he has the metabolic disorder, Tyrosinemia (the body's inability to break down tyrosine). I'm not going to go into it all now b/c we are not 100% that he has this disease and to be honest, some of it is still confusing to me. We met with a pediatric geneticist (at Univ. of IL - Chicago) on Thursday morning to review this disease and have his blood drawn for more tests. There are 3 types of Tyrosinemia and thankfully after getting back results from one test, we know that Sam does NOT have Type 1...the worse type to have. So, we praise God for that!
Other than having the disease, one possibility, that we are praying for, is that his liver, which should be breaking down the tyrosine on its own, is just not mature enough to do so (apparently this happens in some newborns). His liver just needs to mature and start doing what its meant to do. If he indeed does have Tyrosinemia, the good news is that it is not life-threatening. He will have it forever, but with a special diet, he can and should lead a normal, healthy life. This is why the newborn screening for these types of metabolic disorders is so important...to catch it early and get the child treatment before any symptoms appear. So, be careful if you "google" tryronsinemia...you may read "horror stories" but in those cases, the child has usually not been screened early and therefore, presents him/herself as sick before diagnosis.
We've also been dealing with Sam's bilirubin level. Bilirubin is also processed through the liver, so again, the fact that his is not necessarily going down (it's not going up either...staying about the same) could indicate his liver being immature. Again, this is what we are hoping and praying for...that his liver will "kick in" and do what it's supposed to do and Sam will be free from any disease and can carry on with his life being smothered by his big sisters!
I hope this made some sense...we wanted to let you all know about this now so that we could have any extra prayers we could get. We go back to UIC on Wed. morning for another blood test and to discuss where we go from here. If is tyrosine levels continue to go up, we will likely be putting him on a special formula diet soon. We'll keep you posted on that...
One other piece of good news is that Sam is continuing to gain weight. A few days after birth, he had gone down to 6 lbs. 8 ozs and as of yesterday, he is back up to 7 lbs. 6 oz.! Now, over his birth weight!
So, if you're the praying type...and we hope you are...please join us in praying for these specific things:
1. That Sam's tyrosine level goes DOWN on its own
2. That Sam's bilirubin level goes DOWN
3. That Brian and I stay positive and are able to do what is best for Sam
4. That the girls are not too affected by this
5. That Sam continues to grow and thrive
Thank you so much!
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