We got a shiny new piece of equipment (or furniture?) in our living room this month. B's Buffalo standing frame has finally come in! It is an impressive looking piece of equipment (kind of looks like a torture device) and it takes some getting used to put him in it (and out) but B loves being upright and more at his brother's level. Unfortunately we also found out that the rep that came into our home to set it up didn't do a stellar job (there a few key mistakes) so we have to have it taken to ACH this week to have it adjusted with his Physical Therapist present to ensure it is done correctly this time (frustrating). I won't gripe about this but I am certainly annoyed about it that's for sure! The purpose of the device is to get Mr.B on his wee feet and legs and get them used to having pressure on them. We can adjust his angle and therefore adjust the amount of pressure he feels on his legs/feet and it will hopefully inspire him to want to put some pressure on them himself!
I've come to the conclusion that I'm not very patient at waiting, I'm too used to (spoiled by) life 'in' the hospital in which you get immediate (mostly) answers to any testing you have done. We are in the process of waiting for a couple of different things at the moment, a genetics test (which we'd have to wait for regardless), a new Opthomolgist and some spinal x-rays.
We had a visit to Genetics two weeks ago for a routine check-in and follow-up. I went over anything that is new in the past few months (takes awhile) and then the 'confer' and decide if there is anything new to test for. We've had so many genetics tests done that I can't even remember them all at this point. The Dr said herself that she was surprised at the tests they've run (without an answer among them). The funny thing about the genetics is that I've just come to realize that B is B, with our without a diagnosis which is why I was surprised at how stressed out I've felt with them looking into a new syndrome. Upon review, the Dr decided that she wanted to test for Pallister-Killian Syndrome, they figure there are about 200 cases worldwide. Interestingly enough it involves the chromosome 12p, which is also responsible for ALS, the disease that took my Grandmother from us at an early age. I can see how she can see him fitting into this one syndrome but there are still discrepancies (of course). She informed me that she wanted to take a skin biopsy (I didn't think they were doing any further testing that day) and I asked what was involved with that. She informed me that they do a 'punch' of the skin and then in turn grow it into a larger sample for testing. Torturing B with an unscheduled procedure (I wasn't mentally prepared) wasn't my first choice so I asked if there was another option. She informed me that we could do a cheek scrub in which they insert a 'wiry' brush into the mouth and take a sample (scrub) of each inner cheek. I was a bit annoyed that she'd not presented me with both options initially, I would certainly rather a cheek scrub over a biopsy of the skin. She did go on to explain that the cheek biopsy isn't as conclusive as the skin punch and that if it came back negative she'd like to still proceed with the skin biopsy (lovely). (This is not a test that can be done by blood as it doesn't present in a blood sample) I became instantly stressed about the results of this test, I'm not sure why. It would be positive to have an 'answer' or a diagnosis but on the flip side it doesn't change anything with how Braeden will be treated medically (or emotionally). It will give us insight into what things we might need to look for in the future. I guess part of it was that I had kind of given up on finding a diagnosis and just came to the conclusion that he simply is Braeden (or had Braeden Syndrome).
We had a routine exam scheduled with Opthomology for May but I asked if we could move it up to April due to B's eye lids getting more droopy. We've noticed that his eyelids (the left especially) are getting increasingly droopier over the past few months. Droopy eyelids can be due to a genetic syndrome but I think partly they are also due to his strokes. We saw our routine Opthomolgist but she informed me that she is a retina specialist and therefore can't report on the eyelids. She let me know that Mr.B's coloboma (key hole shaped pupil) is doing well and shouldn't be affecting his vision (which is great news) but that we would have to be referred to a new Pediatric Opthomologist as well as an Orthopist (an eyelid specialist/surgeon, conveniently there is a married couple that shares these roles). The Dr suggested that we might be able to patch B's right eye and therefore forcing his left eye to work harder and open up a bit more but chances are we are looking at eyelid surgery in the future. They don't generally worry about the eyelids drooping unless it is covering more than 1/2 the pupil (which B's left eye certainly is most times). So two new (more) Specialists to add to our roster. We see the Orthopist in a month so we'll see what the process is after that if they'll do some patching or recommend surgery.
The biggest weight on my mind these days however is the 'unknown' about Braeden's back (spine). Mr.B's had a 'lump' on his left lower back for over a year now and it's been looked at on more than one occasion as well as ultrasounded. The thought initially is that it was muscular (or rather lack of muscle tone) causing it and was only really noticeable when B was bent forward. The lump has now grown rapidly in the past two months and is very noticeable in any position and I'm almost thinking that it could be partly responsible for our lack of sleep (pain). We can see Mr.B's back changing as well as his right rib cage (angular now instead of a smooth curve) and it is scary. I know it is probably due to the fact that he is growing rapidly and it is now more pronounced. The initial thought (without the test results) is that it is either Kyphosis or Scoliosis (OR both).
The term "congenital scoliosis" refers to a spinal deformity caused by vertebrae that are not properly formed. This occurs very early in development--in the first six weeks of embryonic formation and often before the mother knows she is pregnant, and the cause is not known. Congenital scoliosis does not seem to run in families. Genetic studies to date have not yielded much evidence that this condition can be inherited. Although congenital scoliosis is often discovered during the infant or toddler period, in some children it does not appear until their adolescent years.
Needless to say, we are more than a little concerned! I took B for some spinal x-rays last week and we should have the results tomorrow when we see his Pediatrician, Dr.Cassie. When we went for the x-ray the tech said that they'll do a full spinal x-ray (laying on his back) and if needed they will do side pictures (all I could think is that "you'll need the side shots too"). Sure enough side pics were requested as well and the tech took one look at the first shot and asked if we'd been tested for Scoliosis. She also mentioned that the Dr might want us to get another ultrasound done if there is soft tissue involved. I'm not sure what that means at this time, I can hypothesize out the wahzoo but won't be any closer to an answer. I am looking forward to hearing the test results tomorrow to simply stop my mind from going full tilt worrying about it but am also terrified of what this could mean. The ironic thing with Kyphosis is kids with the congenital form also often have congenital defects of the heart (check), kidneys (check) and the GI tract (and, check).
Worst case scenario (I think) is that we are looking down the road at one or possibly two surgeries (spine and eye lids). I often wonder what other wonders Mr.B is 'hiding' in his little body that we'll discover one day.
I am certainly feeling a little stressed these days! I am incredibly fortunate though because Calgary Family Services has sent me a very energetic and sweet 22 yr old to give me some assistance and hypothetically let me get some rest (the rest part hasn't really happened yet because someone might be a bit of a control freak...might be me...just sayin'). Ashley got a crash course in Mr.B last week however when he had a major reaction to a new formula trial and wouldn't stop retching as I was driving. After pulling off the road and venting him twice I pulled back on the road and it happened again 30 sec down the road and Ashley jumped in the back of the van and vented him the whole way home so that I could drive. What a trouper! She was a bit terrified I think and a wee bit scarred by it but she showed great initiative and confidence (who needs medical training??)! Please be proud of me though, not only did I ask for help but I am trying to accept it! The sad part is I have to give her back in a few weeks but am hoping that my house and life might be a bit more organized at that point AND who knows? Maybe I'll know what it feels like to get a few hours of consecutive sleep??