Happy 4 month birthday, sweet boy!
We were in STL to review final pathology and sign papers. Plot twist!
Final pathology report shows that his tumor is NOT a Pineoblastoma. It is in the same family, but the cells clustered differently, making it a new diagnosis, which they warned us could happen. The name of his tumor is BRD4:LEUTX Fusion. (Wth?)
Thought Charlie was already rare? Go ahead and sit down….because he is only the 10th known person ever in the entire world to ever have this.
It gets better.
They also found a gene called ABCG2. This makes his body unable to respond to certain medications. Several of those medications are sometimes used in chemo. But thankfully, none of them are meds we were planning on using. But, this has prompted the genetics team to do a pharmacogenetic test to see how good body metabolizes medications.
The Oncologist doesn’t feel like this new diagnosis changes anything, really. Same treatment. Just hardly any data we can use or numbers that we can look at. But we’ve already determined that those numbers dont matter to us anyways.
Next steps:
Tuesday, 5/12 – admission
Wednesday, 5/13 – g button and central line surgery
Friday 5/15 – MRI then depending on how quickly he can wean off IV, he could potentially go home (I’ll believe it when I see it).
Depending on the MRI and how much the tumor has grown, we will start chemo on either 5/19 or 5/21.
It’s almost go-time! 💪