Hi Ladies - it's been a long time since I updated - everyone has probably forgotten us by now !! - but for those who remember me / James, we got some big news this week and I'm finally trying to come back to the land of the living. Last time I updated, we had the diagnosis of HLH and were trying to wean James from the ventilator and were in the middle of chemo. Fast forward several weeks: James' breathing is still a struggle because his lungs were so badly damaged in the initial illness, but after 2 false starts (he's now been intubated a total of four times - don't get me started) we're finally on CPAP with regular cannula trials that are going well.
And even in the face of this craziness, this week has been insane. When we transferred to our current hospital, their first step was to sequence the DNA of me, my husband and James to figure out whether the HLH was genetic, because genetic HLH requires a bone marrow transplant for a cure. Everyone was sure that James' HLH must be genetic because it presented before 2 months of age, and we thought we were in a terrible situation because the transplant doctors did not think James could survive a transplant - so either he would die from HLH (which is 100% fatal) or die from an illness associated with his transplant. Either way, on Monday I started looking into hospice care for infants, which is literally the most unspeakable thing I've ever done.
And then yesterday we received the DNA results ... which show that James has something very rare called Kabuki Syndrome. His cleft palate, pelvic kidney and anal atresia are all explained by Kabuki, and his HLH is secondary (not genetic) and related to the Kabuki (which can have immune system involvement, though the association is not well understood). He had his last chemo treatment today. The doctors now say that James does not need a bone marrow transplant to finish treatment, although they will still watch him carefully because he is literally the first kid in recorded medical history to have Kabuki Syndrome with secondary HLH. In other words, he's now very likely to survive. And while he is going to need a lot of therapy and rehabilitation after all of this, has the chance of being a happy kid
At some point I will hopefully be able to share with you guys more of the craziness of the past months. But for now, I have to stop thinking of myself as giving James palliative care, and start thinking of myself as a mom of Jan '14 baby, because he's going to be here and with us for a long time. So hopefully you guys don't mind having me back... our experiences are still going to be pretty different from yours, but since I've been through it all before with Max, I can still relate! xoxo
DS1 born 08.02.11
DS2 born 12.05.13