Summary for those who don't want to wade through the long explanation:
Nicolas does not have Hereditary Persistent Fetal Hemoglobin/Sickle Cell as we had hoped. However, the hematologist still thinks there is a good chance that he does not have sickle cell disease. After all of the tests they did, including a DNA test, they have no idea what Nicolas has, and we will likely never know (unless they decide he has sickle cell disease).
The long explanation:
The earliest test results that we got back indicated that Nicolas likely had HPFH/Sickle Cell, but the further testing that they did to be absolutely sure did not confirm it. The good folks up at Mayo ended up looking at Nic's DNA to examine the genes that control making hemoglobin. People with regular HPFH have a specific part of their genes missing, and Nicolas had that part, which means he does not have the usual HPFH. Now, you may be asking, as I did, since there are two genes to control the formation of hemoglobin, and sickle cell disease requires both genes have the mutation for sickle cells, why don't they check and see if he has sickle cell mutations on both genes? Apparently DNA is a little more complicated that those neat double helix-illustrations make it look. According to the hematologist, it is all too muddled up to determine if both genes have sickle cell mutations. There are no more tests they can run. There is the possibility of sending Nic's blood to a researcher who specializes in sequencing hemoglobin genes, but the doctor said that tends to be worthless because you typically are not allowed to see the results of the tests they run if they are using it for research.
The group of hematologists that our Dr works with are having a meeting (actually, the Dr called it a conference) on Nicolas' case next Tuesday morning at U of C. I sort of wish I could go. Anyhow, perhaps someone there will have an idea of what to do next, but I got the sense that the whole point of the meeting is to marvel at the oddity of Nic's results, and that the Dr is not expecting any new answers. That said, we are praying that someone will have a flash of genius and come up with something.
So here is where this non-news leaves us:
Apparently, there are other mutations of HPFH that Nicolas might have, they can be difficult to find with DNA testing. It is possible that Nicolas has one of these. His "good" red blood cells closely resemble those of someone with HPFH in their size, uniform distribution throughout his blood, and in their apparent ability to prevent sickling (both because Nicolas has been asymptomatic thus far and because in his blood smears they haven't found clumped up sickle cells - highly unusual for a child with sickle cell disease). In addition, his spleen remains normal and healthy (also unusual for his age if he had SCD). The Hemotologist believes that it is most likely that Nicolas has some sort of HPFH, but we may never know a type or have a test result to prove it (it is possible he has a mutation/type that hasn't been documented yet).
There is also the possibility that Nicolas has sickle cell disease with some unknown factor that has kept his fetal hemoglobin way higher than the norm. Most people with sickle cell disease have higher levels of fetal hemoglobin than the rest of the population, but the high end of that spectrum is 20% fetal hemoglobin, and it is frequently not evenly distributed in the bloodstream. Nicolas has 38% fetal hemoglobin, evenly distributed. There are a few things that can cause high retention of fetal hemoglobin, but we would need to know more about Nic's parents and his first mother's pregnancy to determine if these could even be a factor. That information is not available.
Because sickle cell disease is still a possibility we will continue to treat Nicolas as if he has it. He will stay on penicillin, we will continue to go to the ER if he has a fever of 101 or higher (we were told that if the fever is less than 103 and everything else is normal he can just get some antibiotics and go home instead of checking into the hostpital- woohoo!). He will continue his special vaccination series. In six months we will go back and do more blood tests (no DNA this time though), and if his level of fetal hemoglobin remains more or less the same and everything else continues to look good then his statues will be reevaluated and we may begin to treat him as though he has sickle cell trait as long as he does not have a sickle crisis before then or show any signs of SCD. Or, you know, we may wait another six months, run a few more tests, etc, etc.
As you all know, I suspected that something was not right with Nic's test results when we had to come in for the appointment. Thus it was not at all surprising when the hematologist tried to "gently" break the bad news that he has no idea what Nicolas has, and that he may never know. I know at some point I just started laughing at the absurdity of it all. Seriously, THIS IS ABSURD. Hopefully the Dr doesn't think I'm hysterical. I know he thinks Jeff and I have the retention of eight year old's because he explained sickle cell disease to us, again, and he couldn't have explained it in a more elementary way without using a flannel board. If our relationship with our doctor continues (and we hope it will because we like him, respect him, and trust him) Jeff and I are trying to figure out a way to politely explain to him that while we obviously don't know anywhere near as much as he does about any of this, we are fairly well-read on the subject and don't need all this repetition coupled with overly simple explanations. It wastes valuable time, it is boring, and it irritates us. These appointments are billed at over $400 an hour- I don't want to spend Blue Cross' money on nonsense. Do you know how much all this sickle cell stuff is costing them already? Nic's ER/hospital visit was six grand. OUCH. Now would probably be a good time to mention that we are so thankful that Jeff has a job that offers a group plan, even if we do sometimes have to harass our medical group to honor the terms of the plan and pay our bills.
Anyhow, we are happy that we didn't get terrible news, although we would have preferred not to have to spend another six months in limbo. We are thankful we don't have to wait a year for more tests, which is what would usually be suggested, except our hematologist feels we should bend the rules because he is "severely curious" to see how the next round of tests comes out, and thought we would be as well (can you say understatement?). Approaching this round of waiting feels easier, because our hematologist has "a good feeling" about Nic's case, and since we've waited before we know what to expect. We love Nic no matter how crazy his DNA is, and we trust that God will sustain us once again as we watch and wait for answers about Nic's health.
Nicolas does not have Hereditary Persistent Fetal Hemoglobin/Sickle Cell as we had hoped. However, the hematologist still thinks there is a good chance that he does not have sickle cell disease. After all of the tests they did, including a DNA test, they have no idea what Nicolas has, and we will likely never know (unless they decide he has sickle cell disease).
The long explanation:
The earliest test results that we got back indicated that Nicolas likely had HPFH/Sickle Cell, but the further testing that they did to be absolutely sure did not confirm it. The good folks up at Mayo ended up looking at Nic's DNA to examine the genes that control making hemoglobin. People with regular HPFH have a specific part of their genes missing, and Nicolas had that part, which means he does not have the usual HPFH. Now, you may be asking, as I did, since there are two genes to control the formation of hemoglobin, and sickle cell disease requires both genes have the mutation for sickle cells, why don't they check and see if he has sickle cell mutations on both genes? Apparently DNA is a little more complicated that those neat double helix-illustrations make it look. According to the hematologist, it is all too muddled up to determine if both genes have sickle cell mutations. There are no more tests they can run. There is the possibility of sending Nic's blood to a researcher who specializes in sequencing hemoglobin genes, but the doctor said that tends to be worthless because you typically are not allowed to see the results of the tests they run if they are using it for research.
The group of hematologists that our Dr works with are having a meeting (actually, the Dr called it a conference) on Nicolas' case next Tuesday morning at U of C. I sort of wish I could go. Anyhow, perhaps someone there will have an idea of what to do next, but I got the sense that the whole point of the meeting is to marvel at the oddity of Nic's results, and that the Dr is not expecting any new answers. That said, we are praying that someone will have a flash of genius and come up with something.
So here is where this non-news leaves us:
Apparently, there are other mutations of HPFH that Nicolas might have, they can be difficult to find with DNA testing. It is possible that Nicolas has one of these. His "good" red blood cells closely resemble those of someone with HPFH in their size, uniform distribution throughout his blood, and in their apparent ability to prevent sickling (both because Nicolas has been asymptomatic thus far and because in his blood smears they haven't found clumped up sickle cells - highly unusual for a child with sickle cell disease). In addition, his spleen remains normal and healthy (also unusual for his age if he had SCD). The Hemotologist believes that it is most likely that Nicolas has some sort of HPFH, but we may never know a type or have a test result to prove it (it is possible he has a mutation/type that hasn't been documented yet).
There is also the possibility that Nicolas has sickle cell disease with some unknown factor that has kept his fetal hemoglobin way higher than the norm. Most people with sickle cell disease have higher levels of fetal hemoglobin than the rest of the population, but the high end of that spectrum is 20% fetal hemoglobin, and it is frequently not evenly distributed in the bloodstream. Nicolas has 38% fetal hemoglobin, evenly distributed. There are a few things that can cause high retention of fetal hemoglobin, but we would need to know more about Nic's parents and his first mother's pregnancy to determine if these could even be a factor. That information is not available.
Because sickle cell disease is still a possibility we will continue to treat Nicolas as if he has it. He will stay on penicillin, we will continue to go to the ER if he has a fever of 101 or higher (we were told that if the fever is less than 103 and everything else is normal he can just get some antibiotics and go home instead of checking into the hostpital- woohoo!). He will continue his special vaccination series. In six months we will go back and do more blood tests (no DNA this time though), and if his level of fetal hemoglobin remains more or less the same and everything else continues to look good then his statues will be reevaluated and we may begin to treat him as though he has sickle cell trait as long as he does not have a sickle crisis before then or show any signs of SCD. Or, you know, we may wait another six months, run a few more tests, etc, etc.
As you all know, I suspected that something was not right with Nic's test results when we had to come in for the appointment. Thus it was not at all surprising when the hematologist tried to "gently" break the bad news that he has no idea what Nicolas has, and that he may never know. I know at some point I just started laughing at the absurdity of it all. Seriously, THIS IS ABSURD. Hopefully the Dr doesn't think I'm hysterical. I know he thinks Jeff and I have the retention of eight year old's because he explained sickle cell disease to us, again, and he couldn't have explained it in a more elementary way without using a flannel board. If our relationship with our doctor continues (and we hope it will because we like him, respect him, and trust him) Jeff and I are trying to figure out a way to politely explain to him that while we obviously don't know anywhere near as much as he does about any of this, we are fairly well-read on the subject and don't need all this repetition coupled with overly simple explanations. It wastes valuable time, it is boring, and it irritates us. These appointments are billed at over $400 an hour- I don't want to spend Blue Cross' money on nonsense. Do you know how much all this sickle cell stuff is costing them already? Nic's ER/hospital visit was six grand. OUCH. Now would probably be a good time to mention that we are so thankful that Jeff has a job that offers a group plan, even if we do sometimes have to harass our medical group to honor the terms of the plan and pay our bills.
Anyhow, we are happy that we didn't get terrible news, although we would have preferred not to have to spend another six months in limbo. We are thankful we don't have to wait a year for more tests, which is what would usually be suggested, except our hematologist feels we should bend the rules because he is "severely curious" to see how the next round of tests comes out, and thought we would be as well (can you say understatement?). Approaching this round of waiting feels easier, because our hematologist has "a good feeling" about Nic's case, and since we've waited before we know what to expect. We love Nic no matter how crazy his DNA is, and we trust that God will sustain us once again as we watch and wait for answers about Nic's health.
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3 comments:
We are praising God with you all for God's grace to Nic!
Maybe you could introduce yourselves as the Dr.'s Klug and he would stop the simple explanations ;)
Clear as mud for sure, but at least the diagnosis at this point is not definitive of sickle cell. There is much to be thankful for that, even if the next 6 months you need to treat him that way. I agree with mary about the Dr.s Klug!
Nic and Tommy are in our prayers.
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