There is a syndrome called Russell-Silver Syndrome that Aerynn has several signs of. It is a form of primordial dwarfism, which if I am correct means their body is in relative proportion. I don't know if I really want to embrace this suspicion yet. Even now a while after it was first mentioned it makes my head spin to think that there may be something else going on behind the scenes. I want to believe that there is something to explain what is happening with her growth, but then to be something that can't be "fixed" is daunting. I don't want her to have anything but if this is what we are dealing with it neatly packages up a lot of her size issues in a nice little parcel.
The biggest thing that the Paed in Warnambool couldn't get his head around was the fact Aerynn is FTT but has fat stores! She has cute little fat rolls and chubba legs. All her blood tests came back with great levels. She is not presenting as nutritionally deficient, so the question is why is she FTT? Why is she not growing if she is receiving sufficient nutrition to not be lacking in anything and have body fat stores? And the RSS would answer that questions I guess...
So following our Paed visit in Warnambool we are now being referred to see a geneticist when they go to Warny in August. I am to take photos of our other children at around 1 year of age for comparison to Aerynn and their growth details.
As much as it answers questions and makes sense I can't allow myself to accept that she may have this condition. I guess because we thought everything was food related - to have something else is kind of like overload. Or is it because I don't want my baby girl to be outwardly different from other children and adults? I know that probably sounds horrible but I can't think of another way to put it :(
Anyways, for reference things that Aerynn has that are possibly indicators of RSS - by themselves these things may be common or even considered "normal" apparently it's when they are all put together in the one box there may be issues...
- Curving of the little fingers in towards the ring finger
- Proportionate weight and height under 1%ile, head circumferance normal, on or above 50%ile
- Blue tinting of the whites of her eyes (I noticed this a while ago when processing her photos but didn't realise it was actual tinting until the paed mentioned it!!!)
- Cafe-au-late marks
- Small, pixie like facial features including smallish chin
- Broad and slight bossing of the forehead
- Low birthweight, especially when siblings were much higher birthweight
- Excessive sweating, especially when sleeping
- Constipation (uncertain if this may be food reaction related though)
- Possible asymmetry of her legs. Left leg appears to be slightly longer, needs to be confirmed via xray