Thursday, 23 February 2012

Green Milk = Luck of the Irish?

I realized after logging off last night that I didn't do any updates in regards to Braeden yesterday...

We had a busy day yesterday with Genetics and a visit to ENT for a scope.  We finally got to touch base with genetics after the discovery of the cysts in the kidneys.  Unfortunately it is another piece of the Braeden puzzle but not one that points genetics in any particular direction.  The geneticist feels that they are not really much closer to solving the 'Braeden Syndrome' but for me to keep in mind they are looking into syndromes that are very rare.  The one that she has her eye on that she is looking to test him for is 'Costello Syndrome', this is a particularly nasty one as the children with this syndrome have a 1-5 chance of developing cancer(s) early in life and they seem to be in a fairly constant level of pain all over.  It is a VERY rare syndrome with only 200-300 people worldwide with this condition...yikes.  She feels like it isn't a huge push to test for it, it is just another to cross off our list.  She is so casual about it that she is going to wait another month for his blood to clear out all of the transfusions so that we get a clean Braeden sample.  I did read up on it a bit before bed last night (not a good idea, it was an Ativan night to get to sleep) and I was surprised to see that I could see Braeden's little face in the pictures of the kids with this syndrome.  No need to get ahead of myself until it becomes a reality but it is pretty scary.  It goes to show you how out in left field B is for the Dr's if they are now looking at things that are so genetically rare.  The other new thing is that they are going to be taking photos of B as he grows so that we have a comparison as well for the file.  If you want to research this condition, do so at your own risk, it is not pretty and it might just stress you (I mean me) out till it is diagnosed or not.  She did go through and add up his genetic anomalies and there are SO many.  We all have a few if you look for them but Mr.B has many, just not so that they all fit into a puzzle piece of who he is.  I've been saying all along that something must be there genetically but what?  The genetics Doc is also ordering some more metabolic tests to rule out some of those as well.  Hurry up and wait and see.

We had an adventure yesterday by getting to go down to the ENT offices for a scope of B's swallowing and vocal cords.  We transported him via crib to the office and I got to sit in a chair (similar to a dentist's) and hold Mr.B while the ENT (Dr. Brookes) put a scope up the nose and down into his throat.  He was then given green (yes, St.Pat's GREEN) dyed breast milk via a syringe and then we all got to watch him swallow it (or not).  He was able to take a few sucks off a bottle of green milk too but he wasn't too keen on it since he's not ever had a bottle before and he was even more unimpressed that he was hungry (they stopped his feed a few hours earlier) and had to work for his food for the first time ever in almost 16 weeks!  Poor kid! He did well, as well as can be expected without fully functioning vocal cords.  Dr.Brookes was happy with what he saw and he felt there had been some progress since the last scope.  The SLP (speech and language pathologist) is still erring on the side of caution and doesn't  want any kind of oral feeding or tastes.  I'm not surprised by this, it is certainly unfortunate though but it is just another thing we need to wait on.  When I spoke to Dr.MacNeil (B's new Paediatrician, she's on the 'purple team' or the long term care team) about it this morning she wants to err even more cautiously by leaving him on his 24 hr feeds and not put him back up to bolus feeds as Dr.Brookes suggested.  Caution is good, it is just time consuming! Bah, it will all come, sooner or later. 

I also voiced my concerns to Dr. MacNeil about the fact that an RT had weaned B's oxygen yesterday from 30% down to 25%.  It might not seem like much but it was only an hour later that it had to be put back up.  I expressed my confusion about the fact that we were told repeatedly that they were NOT touching his oxygen this week...apparently Dr.MacNeil wasn't too impressed with this finding either.

Tomorrow is my first solo flying day since October, my Mom is heading to the airport as we speak!  I'm not too concerned about it, I'm just not going to have a clean house, well chosen meals or clean laundry anymore!  It will certainly be a huge adjustment not having someone here for support and my Mom did so many small things along with the big that I couldn't name it all.  So another huge thank you out to my super Mom that has sacrificed her own freedom and life for the past four months to come and live ours with us.  If you happen to see me in the next week and I am walking dazed you'll know why!  I am glad though that she got to have a loooong and sweet cuddle with B today for a few hours, that is all the currency I have these days not having a job and all! :)

Other than Mom leaving today (for sure this time although it is snowing...), it was a pretty uneventful day for Mr. B.  It is nice to have relatively quiet days now and not be waiting, chewing my nails for the other shoe to fall.  Not that I think the drama is over, far from it, but I'm enjoying the quiet whilst I can!

"The family is one of nature’s masterpieces"
- George Santayana

1 comment:

Anonymous said...

What would we do without our Moms :-) You are very lucky to have yours and B is very lucky to have you!!!!