Saturday, August 4, 2012

Black and White

Sometimes you can be told things over and over but it takes seeing it writing for it to really sink in.  I think as much as we've been told that it is a possibility Aerynn has RSS and the food stuff is a side matter I've always thought that it was not taken seriously, and that it was just something to be ruled out then moving on to concentrate on the food thing. 

Today we received a carbon copy of the letter the allergist sent to our paed following Aerynn's visit to the RCH 2 weeks ago.  I hadn't expected to have this letter posted to me, much less expected the detail that was within it!  It is a FULL 2 pages long!!!!! 

Reading it made the hairs on the back of my neck stand up.  Seeing exactly what Aerynn has been through and is going through set out in a clinical fashion in words was very confronting.  As much as I know what we have experienced and seen, to see it set out in black and white kind of formalised it.  Finally it wasn't words floating around that were floating off in the distance end being ignored.  Here is was; documented by a medical specialist.  We were finally being listened to...  but it was so hard to read! 

They have given us a tentative diagnosis of: 

1) Multiple Food Protein Intolerances and Allergies
2) Failure to Thrive and 
3) Mild Eczema. 

So for the moment they have removed the FPIES diagnosis but that will be investigated in hospital.  Aerynns only acute FPIES reaction so far has been to neocate, but she has all the symptoms of chronic FPIES and our paed is certain it will be re-instated. 

What has really made me sit up and pay attention is the following - as quoted from the letter....

"She did not demonstrate any obvious dysmorphic features or nutritional deficiency"


"as Aerynn is small and petite we support her referral for genetic assessment to be seen with regards to a possible diagnosis of Russell-Silver Syndrome" 

It's hard to put into words, but as much as we've had this suspicion for several weeks now but to see it in writing and not shrugged off as "yeah maybe, but not likely" or "not a classical presentation" is making it seem more a real possibility.  I know it's not a diagnosis.  What I guess I'm trying to express is that as much as we've been talking about the possibility it hasn't seemed REAL.  Now that it is in black and white and the investigation of it is being supported due to the exact reasons we've been suggesting that there is something other than food complications it makes it harder for us to shrug it off ourselves.  

Why tell everyone about the possibility if we are struggling to believe it ourselves?  I guess it is a way that we can start to accept that it is a possibility.  That said, without positive confirmation we've also been able to push it aside and sit on the fence ourselves saying maybe it is, and maybe it's not...  To have another professional think it is enough of a possibility to put it in writing and support the investigation (which I know probably has been done already with the geneticist referrals, but we've not seen it) confirms our suspicions I guess that there may be something more than food - that this really may not be a quick fix thing...  

It probably doesn't sound very logical.  I probably sound like a complete and utter nutter...  TBH I don't care at the moment.  I'm struggling with this.  It is so confronting to see these words written about your daughter, to see your suspicions reflected by a professional and to have to start to accept that our little girl may not be able to be "fixed".  Augh but then I get into the mental argument with myself that RSS does not mean there is something that needs to be fixed!!!  Oh these mental games are really doing a number on me at the moment :/

I guess what we are drawing from this is that we have confirmation on examination and via bloods, urine and stool samples that Aerynn is NOT nutritionally compromised of deficient.  Aerynn does not have any obvious deformities to suggest genetic issues, but they support the investigation and possible diagnosis of RSS which would explain her size, very fine features and FTT.  We have had our FPIES diagnosis put on ice but diagnosis of intolerances, allergies FTT and eczema have been confirmed with further investigations, tests and challenges to be completed as an inpatient.  Nothing that is a real surprise there - but as I said, to have it in black and white puts a whole new REALNESS to what is happening after we've been shrugged off and ignored for so long...    

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