Of Course...
We got genetics back on the POLG1 test....drum roll....shock and awe.... NEGATIVE!!! Negative for one of the most common Mitochondrial diseases. Of course it's negative! Another dead end. I talked to the nurse again today and asked her what we do now. Well, we could continue with diagnostic testing which means a muscle biopsy or we just continue to treat it as clinical mitochondrial disease. I'm leaning towards putting off the muscle biopsy for now, maybe a year or so.
The advantage to having a name for this beast is that we will know the progession of the disease and there may possibly be other treatments that could be more supportive than what we are doing. Keep in mind, there is no cure, no great treatment for Mito.
It is so frustrating! Shelbie has yet to bounce back from her IVIG infusion. She feels crummy and sleeps alot. She has now developed more petechiae and purpura which is strange since her platelets are holding nicely at 174,000. Her red blood count took a dive just 24 hours after infusion and naturally, her hemoglobin did as well. I have been wracking my brain trying to figure you why she has petechiae.
I think I have figured it out. Vasculitis. Vasculitis is inflammation of the veins and arteries. It can weaken the cell walls so blood spills out, hence the petechiae. It can be serious, even life threatening and in rare cases can result from IVIG, so we are going to the doctors on Wednesday to confirm it or for him to make a different diagnosis. Whatever it is, it's not right. I also read it could be that one of the plasma donors had TTP- another platelet disorder.
I have a feeling I will be super angry if Shelbie has contracted another problem from plasma transfusions. I guess I will wait for the doctor to weigh in. Either way, it stinks. She is just not getting much of a benefit anymore from IVIG, in fact, I feel like it is doing more harm than good so I am hoping we can take a break without risking her life with an infection.
So many hard decisions to make. It will have to be made with faith and courage. Hopefully, after we meet with the Oncologist, we will have a better plan.
The advantage to having a name for this beast is that we will know the progession of the disease and there may possibly be other treatments that could be more supportive than what we are doing. Keep in mind, there is no cure, no great treatment for Mito.
It is so frustrating! Shelbie has yet to bounce back from her IVIG infusion. She feels crummy and sleeps alot. She has now developed more petechiae and purpura which is strange since her platelets are holding nicely at 174,000. Her red blood count took a dive just 24 hours after infusion and naturally, her hemoglobin did as well. I have been wracking my brain trying to figure you why she has petechiae.
I think I have figured it out. Vasculitis. Vasculitis is inflammation of the veins and arteries. It can weaken the cell walls so blood spills out, hence the petechiae. It can be serious, even life threatening and in rare cases can result from IVIG, so we are going to the doctors on Wednesday to confirm it or for him to make a different diagnosis. Whatever it is, it's not right. I also read it could be that one of the plasma donors had TTP- another platelet disorder.
I have a feeling I will be super angry if Shelbie has contracted another problem from plasma transfusions. I guess I will wait for the doctor to weigh in. Either way, it stinks. She is just not getting much of a benefit anymore from IVIG, in fact, I feel like it is doing more harm than good so I am hoping we can take a break without risking her life with an infection.
So many hard decisions to make. It will have to be made with faith and courage. Hopefully, after we meet with the Oncologist, we will have a better plan.
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