The lab tech that did Nic's tests last week forgot to send that extra vial of blood off to Mayo clinic for the ONE TEST that we really needed. I wonder what he/she thought it was for?
Which means, not only do we not have any answers, but Nic had to get his blood redrawn this afternoon. Since the last draw was only a week ago, he had some pretty distinct memories of the experience, making this draw a lot more traumatic. It's so much easier when they don't know what's coming.
Needless to say we are pretty irritated that he had to be poked again, but, what could we do? We still attended the appointment with the specialist. Nic looks great and has no indications of sickle cell disease. His iron levels are good, he has no signs of jaundice, and his spleen is not enlarged. Without the blood work the hematologist couldn't speculate on Nic's future diagnosis, but we did discuss what we will do if the tests are definitive for sickle cell disease, and at this point we would just continue to do what we have been doing, and start thinking about when he might start more intense medication. There is a medication in use right now in pediatric sickle cell treatment that looks very promising, but it also has some serious side effects, so it isn't something we would want to start until we were sure he had sickle cell. The other main treatment for sickle cell disease is a bone marrow transplant, and our hematologist said that there is a growing belief that children with sickle cell should get transplants while they are young, because by the time things progress with the disease it can be much more difficult/too late. However, Nic is not a good candidate for transplant because he doesn't have a sibling to donate... so it may not matter in his case at all (and certainly not right away anyways).
So, what it boils down to is that regardless of the outcome of the tests, we are currently doing everything for his health that we would be doing anyway and thus waiting a few more weeks is unfortunate, but it doesn't harm Nic at all. Mom's blood pressure is another story...
The other thing we discussed is what will happen if the blood work shows that his fetal hemoglobin has not dropped. If that is the case, the doctor will be pretty certain that Nic has sickle/HPFH but since the tests won't prove without a doubt that he does (because it would mean he has a genetic mutation they don't have a test for), we will continue to treat Nic with the standard sickle cell precautions (penicillin, ER visits for fever) just to be on the safe side, but do so thinking that it is simply precautionary and that he will have a relatively normal life.
Apparently there is some third condition that Nic might have (if it isn't HPFH), but they also don't have a test for that (ah, what a theme), but it would explain his funny hemoglobin and why he has hasn't had any issues thus far, and it would overall be a positive thing...but we didn't talk much about it since there were no blood results to talk about.
Now we wait some more. I expect that we will hear something either next Wednesday or the following Wednesday. It just depends on how busy the Mayo lab is this week. For now, I suppose we will be practicing waiting patiently while we continue to pray for Nic's health and a clear test result.
Which means, not only do we not have any answers, but Nic had to get his blood redrawn this afternoon. Since the last draw was only a week ago, he had some pretty distinct memories of the experience, making this draw a lot more traumatic. It's so much easier when they don't know what's coming.
Needless to say we are pretty irritated that he had to be poked again, but, what could we do? We still attended the appointment with the specialist. Nic looks great and has no indications of sickle cell disease. His iron levels are good, he has no signs of jaundice, and his spleen is not enlarged. Without the blood work the hematologist couldn't speculate on Nic's future diagnosis, but we did discuss what we will do if the tests are definitive for sickle cell disease, and at this point we would just continue to do what we have been doing, and start thinking about when he might start more intense medication. There is a medication in use right now in pediatric sickle cell treatment that looks very promising, but it also has some serious side effects, so it isn't something we would want to start until we were sure he had sickle cell. The other main treatment for sickle cell disease is a bone marrow transplant, and our hematologist said that there is a growing belief that children with sickle cell should get transplants while they are young, because by the time things progress with the disease it can be much more difficult/too late. However, Nic is not a good candidate for transplant because he doesn't have a sibling to donate... so it may not matter in his case at all (and certainly not right away anyways).
So, what it boils down to is that regardless of the outcome of the tests, we are currently doing everything for his health that we would be doing anyway and thus waiting a few more weeks is unfortunate, but it doesn't harm Nic at all. Mom's blood pressure is another story...
The other thing we discussed is what will happen if the blood work shows that his fetal hemoglobin has not dropped. If that is the case, the doctor will be pretty certain that Nic has sickle/HPFH but since the tests won't prove without a doubt that he does (because it would mean he has a genetic mutation they don't have a test for), we will continue to treat Nic with the standard sickle cell precautions (penicillin, ER visits for fever) just to be on the safe side, but do so thinking that it is simply precautionary and that he will have a relatively normal life.
Apparently there is some third condition that Nic might have (if it isn't HPFH), but they also don't have a test for that (ah, what a theme), but it would explain his funny hemoglobin and why he has hasn't had any issues thus far, and it would overall be a positive thing...but we didn't talk much about it since there were no blood results to talk about.
Now we wait some more. I expect that we will hear something either next Wednesday or the following Wednesday. It just depends on how busy the Mayo lab is this week. For now, I suppose we will be practicing waiting patiently while we continue to pray for Nic's health and a clear test result.
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