Daley Ponderings

Short version of the post - all good results!  You can read the longer version below.

We are very happy and it has been a weight off of us.  Until a couple days ago, it was seeming like it was quite likely going to be a bad answer, as we've been praying and thinking over this last week, I had eliminated a couple possible theories.  The clerical copy and paste error wasn't correct, because there were some small changes from the previous test.  The false positive result is quite unlikely.

Two new theories emerged this week, that Faith's marrow is successfully working in Grace, but had become "infected" (probably not the right word for gene mutations) by Grace's JAK3 mutation, and the second is that Faith actually has the JAK3 mutation herself.  It turns out that the latter is most likely the right answer.  We've been talking and emailing the doctors over the last couple days and it turns out that the JAK3 was originally reported as pathogenic since it was in the presence of leukemia, but they are now thinking that it is a "regular" mutation and not going to be a problem.  Faith's bone marrow wasn't tested, but JAK3 (and others) can be detected in the blood, but, basically, since she is old enough that if it was going to cause a problem, then weren't concerned about it, and so the pathologist who saw Faith's results considered it a normal variant and it was "filtered out" of the prior reports.  They are going to go back and modify some of the reports to make it more clear for future readers.

It is also likely that since both Faith and Grace have it, that either Heather or I have it as well.  There is an immunologist at Boston who agrees with our oncologist that it is "overkill" but is willing to do some blood tests to do further checking.  There are very few documented cases of this particular variant in gnomAD (good luck trying to figure out that site; even when I type in the specific protein alteration/variants, I still can't figure out how to find any useful data), but there is a similar variant that causes some immune system problems, so in the interest of reducing anxiety, the doctors thought it could be worth a meeting and a blood draw, but they don't expect anything interesting to come out of that.  We aren't currently due for a visit to Boston, but the doctor suggested we schedule one for Grace and Faith and meet with immunology on that day, so we'll probably do that once summer vacations and trips are over.

We can't quite tell if the chimerism test result came back, as Heather and I interpreted an email differently, but other related tests don't show any presence of JMML, so everyone thinks everything is still going well.  And I forget if I wrote this before - Grace's blood tests are the closest to within normal limits than any test I can remember.  She just has a few tests (out of ~30) reporting just barely outside what would be normal for the general population, and her "normal" isn't normal, at least not yet, so nothing interesting to report there either.

Her loaner hearing aid is doing well, and we are going to purchase one at her next appointment. (probably the main reason to do that is if we lose or break the rental one, we have to buy a new one, and the owned one has insurance).  She went swimming yesterday and it wasn't until after I dunked her under that I thought to remove the hearing aid, but fortunately, Heather and Joy are more on top of it than I, so it was already taken out...

She continues to impress everyone taking her daily medicines, she now takes them without water, but just swallows the pills, though does still insist/enjoy the post-med tic tac.

She'll be going to Dartmouth on July 9th for a pretty extensive workup: audiology, opthamology, MRI, CAT scan, and the regular blood draws.