Tuesday, 23 April 2013

Finally Some Good News!

Mr.B helping Mommy work!
The funny thing about good news is that it also means that we don't have any answers to the questions that we were waiting for. Huh.

Braeden has come back 'normal' (the Geneticists' word, certainly not mine) in regards to his cheek scrub test for Chromosome 12p (Pallister Killian Syndrome).  Now of course as I mentioned earlier this only means that the cheek scrub test is negative, but not necessarily true.  Only 70% of kids with PKS have a positive result through cheek scrubbing and the other 30% are diagnosed through the skin punch biopsy.  Back to the decision of the skin punch or not.  There are many benefits to having the procedure done because they take the skin sample and grow it into a larger sample that can be used at a later time as well for further testing.  Great idea right? 

The biggest issues I have are that:
1) Mr.B is now aware of cause and effect, as soon as we enter an exam room he immediately starts to cry (somewhat hysterically).  For those of you personally aware of my son you know that is certainly not his regular personality.  I am trying to lessen the traumas that he has to endure simply by making other choices for him at this point.  The fact is, we are going to spend a good deal of B's life with Dr's and at Children's so I want him to have a 'happy' view of ACH, if at all possible.  The friendly faces we see and the wonderful people we meet certainly play into that but the cold reality is that it isn't all roses that's for sure!

2) It is a small procedure but still a procedure nonetheless.  It entails the Dr applying a numbing cream to his arm and then we return an hour later for the actual 'punch' removal of the sample.  Some Dr's use a stitch following the procedure but this one does not, she prefers to just apply pressure until the bleeding stops (although she did inform me that there could be excessive bleeding due to the depth of the sample).

3) It's Braeden, need I say more?  He loves, loves, loves to be in that infinitely small percentage of kiddos that don't react or behave how the typical test would go.  I'm not saying that it would happen but I am certainly more cautious with anything in regards to this little man.

Choices, choices.  What if we don't do it?  Then we don't do it.  They have completed all of the genetic testing that they can do on him to this point by blood samples.  Mr.B has been tested for anything and everything under the sun in terms of genetics thus far and we've still come up negative.  So what if we do?  Well we might just have an "answer" in terms of his genetic make-up or we might not.  The Geneticist does want to study him further to see if there is something else she can 'see' as well.

I guess what is really is is that I'm torn about the need for the Genetic 'answer'.  I understand from a medical point of view that it is a good thing, it can help us predict (ha ha) his future a bit better and it would be great from a research perspective for the Genetics Program at ACH (chances are he'd be the only child in Calgary/Alberta or even Canada with 'said' Syndrome).  Having a label gives me some anxiety and I can't quite place just why that is.  Having a label ensures further funding (not that they can deny him any with his history), and might make the process a bit easier (double ha).  And it has nothing to do with anyone else 'labeling' him (the average person won't have any idea what his syndrome is if I were to tell them), so what?  I don't know.  Maybe I like my 'mystery' baby?  I guess what it is really is that I don't know if I want to know what the (possible) future holds.  I like that we have been given the grace of living life day to day.  We have been shown that life changes, and certainly can change again, in an instant.  When it comes to B, there is no road map, we just get to be blessed with 'surprises' along the way (some great, some not so great).  I guess what it comes down to, as it invariably always does, is what works best in our lives right now?  I'll let you know next Monday what we've decided.

We also took the time last week to get B's standing frame properly fitted for him at ACH and we were even able to put all of our brilliant heads together to adapt his specialized bath seat to suit his needs.  I don't have any updated pics of the standing frame yet, I will get it back this week but I will also have to post a short video of B in the tub with the 'new' seat.  He loves it and just goes to town in it, bicycling his legs and making huge splashes!  The first time I put him in it I had to pull him out of the tub after 5 mins because his lips were blue and he needed oxygen, he'd been playing so hard!  It was so nice to see (the playing part, not the blue part).  I want him to enjoy life and having a bath is certainly one of those enjoyments.  His Physical and Occupational Therapists will be beyond thrilled when they see us next!

it's kind of hard to see but the 'ridge'
closer to the right hand side is
 his spine (you can see
 how it is much closer to the
 right side then the left) and
that his spine goes on an angle
up to the left side.
The other good news is that Mr.B has mild Scoliosis!  NO Kyphosis was seen, YAY!  The curve is so mild right now that it is simply a 'watch and wait' scenario.  While this is a huge relief it also led us to the question of, 'what the heck is the mass on his back then?'.  Braeden's Pediatrican actually put her head on her desk the last visit because he was also running a low grade fever at the time (no reason that we know of).  He's certainly a brain tease this kid!  Dr.Cassie ordered a full abdo ultrasound as well as an ultrasound of his back because after examining him she noted that he's thinning out even more (this kid has NO fat stores) and his belly is/was a bit barrel shaped (swelling out under his ribs).  So off to the ultrasound we went!  After a 45 minute ultrasound the Tech told us to wait as she thought the Radiologist would want to speak to me directly (NEVER a good thing), but 10 mins later she said we were actually good to go.  I was a tad concerned but I also know that the Rad's that work at that clinic also work at ACH so there was a good chance he was somewhat familiar with B's case (he's one of the 'water cooler' kids after all).  The biggest fear was that the 'growth' was a tumour but from what I could tell (in all my studies as a Radiologist, not) was that the mass was muscular.

His wonderful, kind and thoughtful Dr.Cassie (Pediatrician) texted me late that night (Fri), long after she should have been working, to tell me that B's urine had come back clear, no UTI (looking for causes for the low grade fever) and that the mass was/is in fact muscular in nature.  Phew.  But wait, what?  Why is B's back muscle going into overdrive when he's clearly hypotonic (floppy) through his core?  That I don't know yet, I meet with Dr.Cassie next week to discuss it.  Dr.Cassie said she'd be a lot more concerned if it were happening elsewhere in his body as well (which it is currently just the left half of his back).

So really we've got good news but no real answers.  I have a feeling that Genetics will be interested in the muscle over-growth in his back as well.  What it comes down to is that he's still our Mr.B and he's still as perfect as ever.  A little man literally FULL of surprises!!

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