Haley: Book II
This past round of check-ups at Sloan Kettering were quite positive: 1% in height, and 2% in weight. Haley’s just on the growth chart, but it still counts, which means no need to contemplate a feeding tube again. Her bloodwork is stellarly normal, with a bit but only a bit more help with her Vitamin D levels (her levels have always low– the Tacrolimus she was on to prevent her bone marrow from being rejected gave her a higher risk of skin cancer, so we kept her out of the sun most of these past few years). Her EEG was also particularly strong. Haley still has many issues since her bone marrow transplant– allergies, constant diarrhea, and inturning of her toes and feet making it hard to walk, jump, run and balance. And her latest symptom– burning sensation in her fingertips– has made us realize that though she is cured, she’s still a ways to go. Her path out of old conditions is still unclear, and the new latent complications from the chemo regimen she was on — a phenomenon called “late effects”– make that path even more uncertain. We’re working hard to tackle these things as they come, amassing an impressive entourage of specialists including a neurologist, dermatologist, and endocrinologist. As the parent, you feel like you’ve been on a marathon, and when you reach 26.2 miles, you then only find out that the end isn’t there, but rather 100 miles further down. It’s a daunting because there’s less familiarity with the complications– every kid responds differently to the chemo and other drugs and it’s impossible even if two kids had the same exact regimen, how they will do.
We’d like to all resume our daily normal lives, but we’re realizing finally that such is not the plan for us, not yet anyway.
The great news is that the 100 mile marathon isn’t run alone! It’s more like relay race. Or a maybe three-legged race… with or without inturned feet?!?!
We’re all here for you guys.
May 10th, 2011 | #
My daughter, Kate (8.5 months old) was just diagnosed with CAMT. She has two mutations – one that has only been seen a handful of times and the other is a mutation that has never been recorded via medical journal prior to Kate. We are starting the transplant process ASAP.
I just found your site and plan to read through your journey – Haley give my family hope. We will fight this!
Thank you for sharing and feel free to email me if you have any words of wisdom to pass along.
June 7th, 2011 | #
what are the two mutations? i’m very curious. i’m very happy to talk to you, anything i can do to help. and yes, you will fight this, and not only fight this but come out even stronger.
June 7th, 2011 | #
I just pulled out the official report. She has a duplication of a single “C” nucleotide in exon 2 (the the mutation is denoted c.256dupC at the cDNA level and at the protein level as p.His86ProfsX78).
The second mutation is a G>C nucleotide substitution at the +5 position of intron 3 (mutation denoted as IVS3+5 G>C or c.391+5 G>C).
I am still trying to understand what all of this means – I’m finding that there is not a lot of information readily available that isn’t filled with medical jargon.
June 7th, 2011 | #
Also, I just realized I said Kate was 8.5 months old – she’s 9.5 months! I am losing my mind already!
June 7th, 2011 | #