Saturday, December 29, 2012

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 :)

1 comment:

  1. Hi Katrina I found your blog somehow late last night and was up until 2am (USA time) reading about your precious daughter. Part of me felt like I could have written your blog almost word for word. I have a little girl who is 14 months old and fighting to grow. She was diagnosed with GERD and stomach emptying issues very young. She had surgery for her GERD because she aspirated on it and had very many near death experiences. She continues to fight to grow and its feeling like a never ending battle. Even with a feeding tube she still is not on the growth charts any longer. She was on them for the first few months of life but quickly fell off but continues to follow what they call "her curve".

    Her GI doctor mention RSS to us at an apt but decided not to test her. I actually blanked out once he said genetic syndrome and couldn't remember the name of it until last night. I was doing some growth chart research and managed to find it and Im feeling numb at the fact that my baby girl meets so many of the criteria. The one thing that is not perfectly clear is her head size because they have a hard time getting an accurate reading on it, there were times it was below 5th% and now its measuring in the 45th% so its very unclear. She has the small jaw and pointed chin (as does my older daughter who has grown normally) Im not even sure if a doctor will ever run the testing on her for RSS but my heart is heavy in feeling like this may be our diagnosis.

    I look forward to continuing to read your blog and I hope you find some answers for your sweet baby girl. Just know that you are not alone at feeling like your child just will not grow. Im constantly feeling this way and none of our doctors are even concerned. Its so hard to be "that mom" who worries about everything but with my baby girl I have to and I feel thats what makes me an informed and great mommy. Your whole family will be in my thoughts.