Results are in...
I finally heard from our doc in Seattle this afternoon. After 7 long weeks of waiting and wondering we have another mixed bag of fun. Where to start, the good news or the bad...
The good news is that all three kids' bone marrow is stable from 6 months ago. The bad cells are still there in the same quantity, the cellularity is the same which means their marrow is basically empty of producing even a minimum number of cells. Depending on where you stand this is either good news or bad news. From my vantage point this is good news. Of course I would have rather heard that things looked better but I will gladly take stable too! So, we breathe for another 6 months and do it all over again!
The bad news...She ran some specialized tests on Shelbie which I was actually unaware of and those came back very abnormal. It was to test her telomeres. Hers are abnormally shortened. A telomere's job is to protect the ends of the chromosone from deterioration. Hmmm...so now what. Well, she is unsure of what to do with this information at this point. She wants to test for another genetic disease called Dyskeratosis Congenito. Interestingly enough, this disease is very rare and can look an awful lot like bone marrow failure, shwachman diamond syndrome and even mitochondrial disease. I am speechless!
She also did additional testing on the kids' pancreas and Shelbie and Spencer tested borderline for pancreatic insufficiency even though their fecal fat testing came back normal.
Now what? We continue to live in limbo I guess. She had no idea what to do to help Shelbie with the infections we can't seem to shake but she has had two meetings already with the immunologists to discuss our kids and she had another later this afternoon. She said they are getting closer to a plan and the Immunologist will be calling soon with results and a game plan...I can hardly wait!
In the meantime, Shelbie is hanging in there post IVIG. The actual infusion was bad. She had so many side effects but they tried a new drug to counteract that a few hours into it and she was able to get relief. I'm hoping those effects will keep the headaches at least manageable. She currently has a bad one along with nausea but I think we will be able to handle it at home instead of the ER.
The good news is that all three kids' bone marrow is stable from 6 months ago. The bad cells are still there in the same quantity, the cellularity is the same which means their marrow is basically empty of producing even a minimum number of cells. Depending on where you stand this is either good news or bad news. From my vantage point this is good news. Of course I would have rather heard that things looked better but I will gladly take stable too! So, we breathe for another 6 months and do it all over again!
The bad news...She ran some specialized tests on Shelbie which I was actually unaware of and those came back very abnormal. It was to test her telomeres. Hers are abnormally shortened. A telomere's job is to protect the ends of the chromosone from deterioration. Hmmm...so now what. Well, she is unsure of what to do with this information at this point. She wants to test for another genetic disease called Dyskeratosis Congenito. Interestingly enough, this disease is very rare and can look an awful lot like bone marrow failure, shwachman diamond syndrome and even mitochondrial disease. I am speechless!
She also did additional testing on the kids' pancreas and Shelbie and Spencer tested borderline for pancreatic insufficiency even though their fecal fat testing came back normal.
Now what? We continue to live in limbo I guess. She had no idea what to do to help Shelbie with the infections we can't seem to shake but she has had two meetings already with the immunologists to discuss our kids and she had another later this afternoon. She said they are getting closer to a plan and the Immunologist will be calling soon with results and a game plan...I can hardly wait!
In the meantime, Shelbie is hanging in there post IVIG. The actual infusion was bad. She had so many side effects but they tried a new drug to counteract that a few hours into it and she was able to get relief. I'm hoping those effects will keep the headaches at least manageable. She currently has a bad one along with nausea but I think we will be able to handle it at home instead of the ER.
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