As Suspected....

We did Aerynns weight and measures today and I have to say I'm not surprised.  She has registered slight increases in height, weight is increasing quite well still as is her head circumference.  I'm awaiting a phone consultation with her Paediatrican now to see where we go from here. 

Her stats as of today at 19 months:

Length 77cm

Weight 9.4kg

Head Circ 48cm

Her lower limbs are starting to look noticeably bowed and her head shape is starting to look a little unusual and has drawn some comments regarding the bossing of her forehead and being asked if she has "something wrong"...  I'm ok now with the questioning, but would love to finally have a diagnosis for certain so we can move forward knowing where we stand... 

Muddling Along

There's not much to really report at the moment.. Everything is still the same...  Trying foods and having mixed results - no clear passes that we can speak of, some clear failures (such as carrots today - All over body rash and vomiting - ahh fun!!!) and still a bright button of a little girl in and around it all.

Totally innocent, she doesn't deserve this hand that life has dealt her

 Aerynn in herself has become a very independent little miss over the past weeks.  She is adjusting really well to Dommy going to kindy and having time at home playing by herself or soaking up mums individual attention.  She has also started showing signs of the "Bricknell Temper"  and that the terrible twos are just around the corner - yes, 19 months old almost - where on earth has the time gone to!?!?!  She has started climbing, jumping, saying "no" (lol) and independent role playing (she loves dress ups!!!!)  <3

Bubble play, Feb 2013

Some days I look at her and think that she has grown somewhat, or that her hair has gained some thickness or length or even that she has chubbed up even more, but I can't be certain of any of that as the next day I think she's still the same.  We will have a weight and measure done next week and a telephone consult with her paediatrician to track everything and make some tentative plans for the next month or two. 

Fast asleep, oh so peaceful <3

 One little victory we have had is a few nights she has slept from midnight to 6am!!!  She used to sleep so well as a baby but once she started becoming ill that was one of the first things to suffer.  She has been waking every 4 hours to have her "ippy" (sippy cup) of formula and then a little play before falling back to sleep...  The ability to sleep through we hope will increase and is a good sign for her :) 

So that's it for now...  a little victory here and there but mostly same old same old...  We'll see what next weeks stats show with her physical growth and see what more mischief the little Miss can get up to in the meantime ;)

"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"

Upgraded, and New Suspicions....

It's not every day you get a letter that takes your breath away.  We received one last week.  It's neither positive or negative, but really knocked the wind from our sails.

You see, in the previous days we'd been starting to think that Miss Aerynn may have picked up a little on the growth and weight front.  We thought she had started to think maybe, just maybe things were improving and we could forget all the concerns and Aerynn was coming right...  

Sadly not so.  Instead this letter states that they have upgraded her "status" from Failure to Thrive (FTT) to Severe Failure To Thrive!!!  And it's not a typo, it was in the Drs own handwriting...  We knew she was a FTT bubba... it's been that way for a while, but the addition of that extra word has shaken us...  "Severe"...  not a nice word when used in a negative medical connotation... 

Not only that but the conclusion is that we are going to end up with a diagnosis of a form of dwarfism.  Aerynn has been on increased calories for 6 months now with no huge increase in weight or height.  The dr noted that as much as she has had a small amount of rebound growth her weight and height is still not able to be classed as acceptable or normal.  Our little girl is a LP.  She has a form of dwarfism and there is no way we can change this.  All we can do is hope for a full diagnosis soon so we can deal with the outcomes and anything else we may need to consider to ensure she has as happy and healthy a life as possible. 

We are still awaiting results from her 11p15 methylation study for Russell-Silver Syndrome and are now about to commence xrays and bloods for investigating the newest suspect, Cartlidge-Hair Hypoplasia. 

CHH actually fits our situation more than what we want to admit.  Right down to Aerynns white blonde hair that isn't growing and very fine and sparse, her non-growing nails and assorted gastro issues.  The scary thing for us is that this is a genetic condition,  this means that our other kidlets could have it (you can have CHH without the dwarfism) or they may be carriers.  It is a recessive genetic condition which could be why no one has heard of it before in the families.  You need 2 carriers to come together to have a child with the condition, prior to the 2 carriers coming together you can simply be passing the gene through the generations without realising... 

So a confirmation has occurred, and a swift slap to make us realise that no, things are no where near normal for our Aerynn.  We still have no diagnosis but we can now start the process of accepting that we can't change Aerynns growth with food as the drs were first trying to do.  We also have a new suspect to deal with and have a road trip to prepare for.  Aerynn has appointments with the genetics team, gastro and immunologist on Tuesday in Melbourne, and now a whole stack of xray studies and bloods to be take at the same time as well.  We leave on the 1000km round trip tomorrow..  We're quite anxious truth be told, we feel we are getting closer to a diagnosis which is what we need, but it's scary at the same time.  The closer we get the more real the situation becomes and we can't hide or pretend that it's not happening... 

New Year, Same old Same old...

Aerynn playing in the sandpit earlier this week

It may be a new year but nothing changes much here.  At the moment we are struggling with lack of sleep with the littlest Miss.  We've had a few nights of waking screaming and writhing around.  i was kinda hoping it was something reasonably common in "night terrors" but the last 2 days indicate it's more in the line of health issues :(

Aerynn was bright, bubbly and happy on Monday... Tuesday however she had a new crop of blisters break out on her upper thighs and bottom.  Not the usual pinprick blisters, there were around 0.5 - 1.5cm in diameter and fluid filled.  Her bottom was bright red with acidic burns.  Those blisters burst last night (Wed night) and this morning we woke to open sores again (albeit reasonably dry thanks to our "magic cream" Aromababy Barrier Balm) but she still has some red patches with huge (well huge in comparison to the teeny size of her butt) flakes of skin peeling off :(  It looks like a terrible sunburn TBH :(  Must be sooooo sore and uncomfortable for her :( 

Nappy changes have become a fight again as she doesn't want anything on them, but they need to be covered to keep them clean and well, to state the obvious so she can poop and wee and we're not discovering stinky little "surprises" LOL  I can only hope they heal up without becoming the ulcerated sores that we're still struggling with from back in August 2012 :(  The only upside is I have some photos to show the Drs that we are STILL having issues and that we'll be seeing them reasonably soon - in 12 days time...  Anyways, usual symptoms... bloated tummy, gassy, alternating diarhoea and then sticky icky poops, traces of blood on her nappies, unsettled and very very clingy.

I have no clue what has caused this latest reaction, I thought we were plodding along reasonably ok...  Anyways so much for that false sense of security!

2012 Wrap Up...

It's been a while since I've posted here.  To be honest it's mostly due to disillusionment with how things have been going for Aerynn and loss of some of our support network.  But we're slowly rebuilding and working out where we stand and where we are heading for future :)

In wrapping up 2012 we unfortunately still have no diagnosis.  We feel we are moving in the right direction, BUT in saying that we (being us, the Mt G dietician and the Warnambool Paed) still don't have any firm support from the individual specialists who are part of Aerynns medical team in Melbourne.  It's pretty much a case of trying to match her symptoms and working out if we can either support or disprove a possible diagnosis.  

At the moment we are still working with the genetics team in suspecting Russell-Silver Syndrome (the genetics team are also looking at 2 older siblings at another condition which could be unrelated to Aerynns current situation).  We were happy to have it confirmed that Nathan, myself and Aerynn are all chromosomally NORMAL ;)  There are no missing or defective chromosones which is a HUGE relief.  We are now waiting for Aerynn's DNA to be tested (It's been sent off to somewhere in England apparently) to confirm RSS or a couple of other syndromes responsible for short stature.  We saw the genetecist on Dec 19th and they will be following up with more tests, full body xrays and what they called a "second line of investigations" when we see the immunologist and gastro in Melbourne early in the new year.

As for her food issues, we have firm support now in suspecting that Aerynn is unable to absorb fructose.  This is a malabsorption NOT and intollerance.  Basically it appears she may be missing enzymes in her upper gastric system which aid in the digestion of certain foods.  There may be other things we discover down the track that she can't absorb or process, but so far fructose is a firm no-no for Miss A.  Now, if you have been following things you'd remember how she was fed primarily pear...  guess what fruit has a high amount of fructose in it :/  Yup pear!!!  No wonder her poor body was having issues!!!  Since removing all fruit from her diet over the past month or two we have noticed a huge change in her bowel habits and not seeing the undigested foods coming through her system as much anymore :)  Mind you, that has only left her with a diet of Neocate Advance (Vanilla) and chicken so there's not much that she can pass through undigested LOL  Actually, speaking of formulas, our paed does NOT want Aerynn back on the nan HA formula at all!!!  Her symptoms are blaringly obvious a reaction to the dairy and she agrees that while Aerynn was on the Nan HA she went backwards with weight gain, where as we are having positive results with the neocate.  There is no logical reason to even consider forcing her back onto the dairy while we finally have forward progress!!

Our paed is fully behind us demanding when we see the gastro in January that she have the scopes that were cancelled during her hospitalisation.  Not just the colonoscopy but also to push for the gastroscopy.  The hype that it is a dangerous procedure she feels has been played up just to fob us off (we had kinda worked that one out ourselves LOL)  We need the colonoscopy as the genetecist also suspects we may be dealing with a case of Paediatric Crohns Disease along with the paed.  At the very least we need the scope to rule this out.  Crohns would explain so much of Aerynns symptoms - including the sores that are STILL not healing on her bottom and upper thighs.  We are still having intermittent periods of blood in her stools, but it's now got to the stage where we don't even note it down.  It's simply an "Aerynn thing"  The paed is happy with how we are handing her and dealing with her food restrictions, introductions and any relevent reactions so is very happy that we simply deal with these episodes as they come up.  Of course if there is any profuse bleeding etc we will take her to get checked out further ;)  We're not silly enough to think that we have all the answers with her care, but there's no panic in regards to blood and mucous anymore as it's almost I guess "normal" now...

ummm what else...  not really sure if there is anything else medically speaking.  We are simply taking one day at a time and rolling with what her little system throws at us.  Our next block of appointments is on Jan 22nd in Melbourne where we will see a new immunologist (hopefully fresh eyes will give fresh ideas!!) then seeing the genetic team and following through with whatever testing they want done and finally the gastrologist and hoping we get some logic as to why her scopes were cancelled back in October and getting them re-booked.  We'll also be looking for continued support to keep her on the neocate formula rather than re-trialling the dairy based formula. 

 Waiting patiently for her Paed appt in Nov 2012



So, where we are sitting at the moment??  Aerynn is 17 months old, 75cm tall with a head circ of 47.5cm.  She has finally hit the 8 kilo mark (woohoo!!!) weighs 8.54kg and we are finally moving her up into 00 sized clothing :)  She is still very small for her age, but we finally have some forward movement rather than the plateauing that was very concerning. 

So in wrapping up 2012, we have no definite answers but we have leads that need following up.  Aerynn is appearing healthy at first glance, it's only when you sit down and take into account she is only eating a small amount of chicken and can't tolerate anything else therefore really only relying on a specialised formula for all her nutritional requirements at 17 months old that you realise there is something seriously wrong with her.  She has been on almost double the amount of calories that most other children require for over 4 months now and is still not gaining excessive amounts of weight or growth so something is going quite awry in her system.  Then when comparing her to other children her age and where her siblings were at the same age you also realise just how tiny she is.  She's our own little petite princess, but we really want to get to the bottom of what is happening so she can have as normal a life as possible!!  

We are praying that 2013 will bring us the answers we need so we can start taking steps to help her gain the life she deserves :)

Going Nowhere FAST!!!

To say the last few months have been tough is pretty much an understatement.  Aerynn's 1 week re-admission to the RCH ended up with another 3 week admission, more intensive tests but again, no real answers for what IS going on.  We were able to rule out a few nasties such as Meckels Diverticulitis and physical bowel obstructions or bowel deformities, but no explanations as for what is happening inside her tiny little body.  So in the last 8 weeks, 2 were spent with an extremely ill little girl and running around the countryside for appointments and tests, and the other 6 weeks as an inpatient at the RCH, almost 500kms from our home and family undergoing all kinds of tests and procedures trying to get answers, but coming away with none :(  We are trying our best to see the positives and make the best of this situation, but really as much as things are being done we feel we are (as my title suggests) going nowhere fast...

 

Out and about with "Larry" (the drip machine)  

The mundane laundry and the aquarium (which Aerynn LOVED!!!)

 She is STILL spilling fats into her stools on every test, but they immunologist doesn't seem ready to investigate malabsorption just yet, however the consultant said he is not ruling it out at.  Her liver enzymes are rising and on tests are highlighted as being too high - this really concerns me.  As much as the liver is an amazing organ which can repair and regenerate itself, to have it in distress as it seems to be with no answers as to why is a little disconcerting as a parent who can do nothing but watch those levels rise - a good thing though is her biliruben levels have dropped back to 0... 

  Watching the Grand Final - 

Yay the Swans won!!! 

Aerynn is still passing undigested foods into her nappies within hours of consuming them.  Sometimes with no stools around the food - kinda gross, and totally not normal!!  She had another bout of blood in her nappies in the hospital, however her colonoscopy and gastroscopy that the gastro team wanted to perfom and we approved were cancelled and have not been done.  This was VERY frustrating.. to have her on a drip and fasting for the whole day and get nothing out of it :/  But what can one do when they are at the mercy of the hospital system and hospital politics **sigh**

We had a dairy trial in hospital as well.. trying to wean her onto a cow milk based formula... Not very successfully though...  Lots of pain, bloating, tears and poopy naps!!  I tells ya!!  When her system is upset it is UPSET!!!  12 poopy nappies one day, 11 the next.. then we called it quits to the trial as we were returning home to move and I wasn't able to cope with the whole intense reaction thing as well as searching for a house, moving and caring for 5 children at the same time as getting no sleep as Aerynn was in pain all of the time... 

 





Celebrating Domeniks 4th Birthday at the RCH.  He was devestated mummy wasn't at home when he woke up on his birthday morning so they drove down to Melbourne to visit!!

I know there's more I could add as to what happened during the admission, but to be honest I'm exhausted.  I needed to get this post in otherwise I know it'll be a few more weeks before I get the time to sit down and really think about the admission - which to be truthful I don't want to think about all that much.  This last admission to the RCH was marred by issues not relating to Aerynn but I found that some support I was clinging to really wasn't there and disappeared into the distance when I tried to steady myself and find the strength to go on.  I didn't expect to be attacked and left isolated the way I was, especially while in hospital so far away from my support network but I learned that maybe it is better at times to be certain in your own strength than in hoping that others around you may be able to help hold you up.  We've learned, we've hurt but we've grown and know we have the strength to face this all, if need be face it alone...  

 Aerynn LOVED taking self portraits on my iPhone :)  

She's really starting to look like a little girl, losing those baby features **sob**

In the meantime we are HOME!!!  Well, what back with the family ;)  Home will be re-locating in the next couple of weeks back over the border to SA ;)  But we're out of hospital.. back to the "normal"  Aerynn is still on neocate advance (vanilla flavoured), pear and chicken.  We are going to try and introduce wheat into her diet when I am game enough...  It may be soon as she is starting to reject the pear and chicken (It is rather a boring diet LOL)  No dairy for 3-4 months according to her immunlology consultant who says she is having an allergic gut reaction (previously known as intolerance), not an IgE reaction to it.  

 Lots of smiles...                                                            and tears...

So the immediate future also throws up more appointments for us... Warnambool Paed sometime in the next week, Back to Melbourne for another immunology consult on Nov 2, Geneticist in Warnambool Nov 24th then back to the paed before Christmas.  In January Aerynn will see the gastro consultant and we will start looking into why she is having these blood episodes in her nappies and investigate the possibility of malabsorption.  It's more than likely going to result in more admissions to the RCH apparently but if we can finally get answers I'm ok with that...  Answers or at the least explanations are all we are needing to know where to go, so we have somewhere to aim in her treatment and prognosis for improvement.

Falling asleep waiting for nanny 

to answer her facetime call...