We learned that Zoe is likely to have HLH on Wednsday March 10th. The hematologist (Dr. M) who made the diagnosis came into the room around 7pm to talk to us and presented the following information:
- Zoe currently presents 4 out of 8 signs of the disease, and as Dr. M put it, “half” of two other signs; he feels given this and his analysis that we have about a 95% chance that the disease is HLH
- There is a 5% chance (these are always estimates of course) that she has Neuroblastoma
- HLH is very rare, he has seen only 12 cases in his career; I estimate him to be around 50-55 years old. Michelle remembers him saying that the hospical, a major regional children’s hospital, has only ever seen 5 cases.
- There are two variations of the disease, one that is familial or inherited, and one that is not; both are triggered via infection of some sort. Dr. M feels certain that Zoe has the familial variation due to her age — she would be unlikely to have acquired the other variation so young. They will in time test to be sure which it is, but initial treatment is the same regardless.
- Zoe will need chemotherapy very soon. If she has the familial variation, she will need a Bone Marrow Transplant (BMT). There is no other method of cure, and the chemo only puts the disease in remission upon success.
- BMT carries a risk of both neurological and physical complications.
- The mortality rate of this disease without successful treatment is 100%.
This is devastating news. Michelle and I held out hope that Zoe had a viral infection, a possibility that the other doctors overseeing Zoe’s treatment continued to hold out as reasonable until the end. It was only upon failure of every test short of a bone marrow sample to diagnose the problem that we began to fear the worst.