Thanks all for your replies, and I'm sorry to be slow in updating the thread.

We met my mum’s primary haematologist yesterday. It was an odd consultation, as they often are. The Dr was evidently reading my mum’s results as we were in the room, and so it started as good news, as she suggested that the initial view of the aspirate and trephine showed a low blast count (about 3%) and a functioning bone marrow, but then turned more negative as we got to the myeloid panel. My mum has a new RUNX1 mutation, which from what we understand has a very negative prognosis in MDS/AML, putting her in the higher risk category. My mum’s doctor also suggested my mum might have a form of MDS/MPN overlap, as her monocytes have been spiking since she stopped the venetoclax, though she didn’t seem very sure about this.

Right now, the doctors seem mostly fixated on trying to resolve my mum’s thrombocytopenia. Based on what they’ve seen on the bone marrow, they seem to think it might be something like ITP causing the low platelets rather than the MDS. I don’t know if this is the right conclusion, or if takes into account the most recent results from the myeloid panel, but it seems they use similar drugs to treat both ITP and MDS-induced thrombocytopenia, so perhaps the diagnosis doesn’t matter if the treatment is going to end up being the same. Right now she is still taking eltrombopag but it doesn’t seem to be having any impact. Her platelets were down to 7 on the most recent blood test results, so they’re going to do another platelet transfusion tomorrow. They’ve suggested they might try immunoglobulin infusions. They’ve also mentioned steroids, but seem reluctant to go down this route given that my mum was recently diagnosed with osteoporosis.

We have another appointment with the transplant centre scheduled for later this month. It was originally due to take place in July but we asked if we could bring it forward given the most recent bone marrow results. I think my mum is now inclined to have the transplant and so is going to ask if it’s still an option for her and if it can be done this summer. We’re making plans now on the assumption that this is what’s going to happen, though we don’t actually know what they are going to say. The doctor that had originally approved my mum for the transplant was a locum, and since he left the doctor who he was covering for has seemed much more reticent about the prospect of offering my mum a transplant. Thought maybe the most recent bone marrow results will change that.

Despite all of this, my mum says she feels well. We did a long walk today. Sometimes she seems suddenly tired, so I expect she is feeling worse than she lets on. I know she isn't sleeping, and relies on sleeping pills. She is also covered in bruises from the thrombocytopenia. But at the same time, she’s always saying that she wouldn’t know she had cancer if she hadn’t been diagnosed.

My hope now is that the transplant is going to be an option, though I’m terrified we’ve made a mistake in not going ahead with it in Feb, and that my mum’s MDS is going to suddenly progress to AML while the doctors are deliberating on what treatment to offer my mum and we will miss the window of opportunity for her to have the transplant. My understanding is that the RUNX1 mutation will make it much harder to get my mum into the sort of remission needed for her to have thetransplant if the MDS progresses to AML.