I'm reaching out in the hopes that someone has had a similar experience or has some insight on my current situation.
I was diagnosed in June 2013 and originally enrolled in the EPIC trial in which I was assigned to ponatinib. In my original biopsy, all 20 metaphases had the Philadelphia chromosome, but some also had an uncle gene in which the mutation had split twice. Essentially 2 chromosomes on every metaphase. When the trial was ended by the FDA, I had a biopsy in October. I had been on the drug for 3 months and the biopsy showed that although the marrow looked healthy and typically developing, the cytogenetics had showed no progress and still all 20 metaphases had the BCR-ABL split. I went on 100 mg of sprycel and was biopsied again in the end of January. And the biopsy showed the same result. We did multiple mutation testings. But I had none. We bumped my dosing up to 140 mg and I've been on that for 6 weeks. I had another biopsy last week and the results were the same! What is interesting is that in all biopsies the uncle gene is gone.
I'm so discouraged and disheartened by my body's lack of a full response. My dr is amazing and I'm lucky to have him as he's determined to give me the best treatment. At this point he would like to transplant but we are hesitant as I'm only 24 and I don't want to lose my fertility. It is an option however as my sister is a perfect match thankfully.
He is calling some different colleagues, specialists in cml to get their advice. One guy thought that I should try nilotinib.
Any thoughts, experience, or advice is welcomed! Thank you all!