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. L
ast 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
Re: James Update (AW)
BFP #2 (5/18/13) due 1/26/14. Grow baby grow!
Its a surprise! Team green!
_________________________________________________________________
Missing Our July Sparkler
BFP#1-11/12/12, MMC 1/16/13-baby stopped growing @ 9wks, found out at 13wks, D&E 1/25/13
BFP#2-4/23/13 EDD-01/02/14 baby BOY born 12/31/13 Michael Cameron
BFP 11.8.12 * EDD 7.17.13 * MC 12.20.12
Of course we want you back here. we have missed you and James! Can't wait to hear more about him!
Baby Chugging born 12.28.13
induction due to HELLP
If I didn't have a 2 year old at home, there would have been a LOT of smoke to my face in the past two months. Instead there's been wine. Lots and lots of wine ... that's more acceptable...right?
__________________________________________________________
DS1 born 08.02.11
DS2 born 12.05.13
DS1 born 11/3/06 * DS2 born 3/29/08 * DD born 3/15/11
Scarlett Mae born 1/14/14 Our family is now complete!
Emma Kate - born 10.16.03 @ 29 weeks, weighed 1lb 13oz and 13.5" long.
TTC #3
BFP #5 11/15/14, Team Green EDD 7/22/15
BFP #4 4/30/13, baby girl born med-free Jan. 2014
BFP #3 9/24/12, Missed m/c at 9w1d (baby measured 8w5d)
BFP #2 9/23/10, healthy baby girl born med-free June 2011
BFP #1 5/21/10, Missed m/c at 10w4d (baby measured 8wks), D&C 6/29/10
"Life is like a camera, just focus on what's important and capture the good times, develop from the negatives and if things don't work out, just take another shot."
@chuggingwater Pass the smoke!!!
______________________________________________________________
BFP 10/8/12 | Missed Miscarriage - D&C 11/12/12
Married: 4/2/13
DS born 12/19/13
Due Date 11/10/16
J14's January Signature Challenge: Favorite Post-Delivery Indulgence
My cat can read EKGs, can your human do that?
_________________________________________________________________