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...
