Friday, February 1, 2013

"She's a Medical Enigma"

"A Medical Enigma" That's the statement we were met with when seeing our paed and trying to put all the pieces together from our last run of appointments and tests in Melbourne in these preceding weeks.  Apparently our little Aerynn has all the specialists scratching their heads and admitting they've no idea what is going on.

Sampling the sand at the sand pit "yummy"!
Basically we walked out of the RCH feeling incredibly deflated, confused and concerned with threats of re-admitting our baby girl back for long term trials and treatments after being accused of "not pushing her hard enough" in regards to food challenges and dealing with her reactions.  To say this really stung would be an understatement.  We were also told at one stage her reactions were "normal" and "expected" in a child of her age :/  Advised that we were to introduce mixed foods together to see if that will make her tolerate them better but at the same time only introduce at a slow rate and individual foods... Yes, confusing, contradictory and lots of blame put back on our shoulders, hence not updating here until we knew more and had clarity through the eyes of our paediatrician who could hopefully read through the reports and try to make clear for us what we were really being told.  And basically, what we were being told is that they have no idea, we're all clutching at straws and hoping for the best.  Still doesn't explain the contradictory information of how we were left up in the air, but I can imagine the frustration when these doctors are expected to have all the answers yet a whole team of them can't seem to work together and come up with anything for Aerynn.  Mind you, they've still not communicated with the genetics team from what we can work out either, so maybe if they got together there they may come up with something??  Not sure, just an idea perhaps :P

So, from todays appointment, Miss A is still putting on weight but not grown a millimeter in the last 8 weeks.  She is now 9.2kilo and 76cm.  This increase in weight but not growth apparently supports the prognosis of a dwarfism diagnosis. She is developmentally doing incredibly well and the paed is very happy with how far she has come in the past 6 or so months since we finally were able to secure a referral to a paediatrican.  I still struggle to understand how the local doctors here were satisfied with her growth and general health and would hate to know where we would be if we hadn't fought to get here!!!  6 months ago she was very fragile and weak, today if you saw her on the street (and not know her current situation) you'd not think there was anything wrong with her, she's active, chatty, robust and has colour in her cheeks :) 

Back to the Melbourne visit...  

Time out in the playground between appointments
No reports have come through from her tests as yet.  Our paed   following up on these urgently.After our last visit with the geneticist in Warnambool back in November he advised our paed that he is incredibly keen to follow her through to a diagnosis - even if it means in 5 or so years time there is a syndrome named after her (words from the paed!!)  Aerynn  has a LOT of genetic markers which is apparently exciting for them.  So far the closest thing that fits her is Cartlidge-Hair Hypoplasia, but they are still not discounting Russell-Silver Syndrome.  Unfortunately genetic testing takes a long time to complete but hopefully we'll find out more soon.  We do have to keep an eye on her though in relation to her skeletal growth and formation as she appears to have visibly bowing starting with her lower limbs.  The x-rays taken last week (or was it the week before??) should be able to confirm if this is only visual or actually the start of a deformity in her limbs.

Being cheeky in the playground at the RCH
We also were finally introduced to the dermatology team to try and work out what is going on with the sores, blisters and ulcers on her bottom.  When an experienced dermatologist says they have never seen anything like it you know that something odd is happening.  Their first guess was it could be an allergic reaction, however Aerynn isn't testing positive to anything in relation to allergies.  As there was a fresh blister that came up in the hours preceding the examination they decided to do a couple of full thickness skin biopsies at the site of the blister, which happened to be on her cushie right butt cheek :(  It wasn't a pleasant experience at all.  Nathan had to leave the room as he hated seeing Aerynn screaming from the combination of being held down and pain...  We were strongly advised that there is a distinct possibility that we wont get any diagnosis from the biopsies, but after so long with this happening we needed to take the risks and see if we can get answers.  I had a phone call a couple of days ago to advise me they have some results from the samples, but no diagnosis.  They couldn't provide the results over the phone so we have an appointment in April to go back for a follow-up and to get the results.  There was nothing we can do to help whatever is going on, so it appears it is going to be a chronic condition with no ready cure or successful medical treatment.  We are to continue treating her as we are with the Aromababy Barrier Balm which is still the only product that goes anywhere near clearing the burns, sores and ulcers.

As a direct result form the barrage of tests performed in Melbourne Miss A now rebels against being sat, layed or even going near a dr's examination table :(  She remembers what happened, I suspect the skin biopsies are the ones she recalls the most, and associates the bed with tests and pain now :( It sure is going to make future examinations and appointments "interesting" to say the least :(

Playing with reflections and corners in the windows
Now back to our appointment today...  We are to continue trying to introduce foods as we have been. If we ever want her to be admitted to get some support we only need call the paed and she will organise an admission at Warnambool rather than going through the RCH again. This means she can see first hand and we will have support from someone who knows the full story - something we never really felt we received from the Melbourne hospital. The biggest concern currently while we await these results is that Aerynn has started to wean herself or at the very least reduce her intake of the neocate formula. She has dropped back to what is still an acceptable amt, but if she drops any further we could be in trouble if she hasn't have adequate safe foods introduced and tolerated by her body to maintain her current weight let alone continue to gain...  Our Paed believes this may be what the allergist in Melbourne was trying to say when she threatened us with another admission if we didn't push her little body any harder to get foods in, but our paed also agrees with me that we need to be careful to not push her to the point that she becomes very ill again, starts losing weight or refuses food altogether.  Just how hard is too hard is something we simply don't know and something that we as parents shouldn't be expected to work out and deal with - hence her offer to hospitalise in Warnambool if we start feeling too desperate. 

To make things easier for us in the coming months with things happening at home etc, we will be getting Aerynn weighed at our local child health nurse rooms and calling up for a phone appointment and going from there.  The next time she is seen by the paed will most likely be in late April when we head back down to the Melbourne RCH for more follow-up appointments and tests. 

So our immediate plan is to continue waiting for test results and starting to re-challenge potato, sweet potato, zucchini, maybe some rice and then lamb again.  We are NOT to trial soy or oats as the allergist in Melbourne wanted.  We are to go slow and steady, not mix things up...  a teaspoon a day and building on that and hoping that we can get some food tolerated before Aerynn decides she is too grown up for formula ;)  Oh and of course to continue to love and embrace all that Aerynn is - a little package of "Concentrated Awesomeness"

No comments:

Post a Comment