About time to catch up again, the weeks seem to be spinning by so fast at the moment.
Firstly, we finally met Peta Sharples, the neurologist, on Friday. We were both pretty wound up about it and not at all sure what to expect but fortunately she turned out to be great. The appointment ended up being about 45 minutes late so you can imagine how we were feeling by the time we finally got to meet her. However she started the meeting by asking us what we wanted out of the consultation, which was a really good way to begin as we were instantly more at ease and relieved that it wasn't going to be a repeat of our meeting with Dr. Arend on Tues. First she quickly went through Rosa's history, asking us questions and making lots of notes, she asked us things like when our first concerns were and over what and quite a lot about how Rosa is now. Also the obligatory enquiry about whether we think that anything has regressed and if she has shown any signs of fitting or seizures, the answer to both of which is thankfully no. Rosa is very healthy and has never had any infections and only one cold so far which I think is quite amazing. So all that was good and it was confidence inspiring to see how much she felt was worth writing down.
We then started talking about where we will go from here, she asked us if we had brought anything to show her. Gareth had printed out the email from Dr.Leone, the American expert he has been communicating with, in which she suggested the drugs which they put their Canavans children on immediately and have found them to be really helpful. The three main things are Calcium acetate, Amoxicillin and Lithium citrate. The calcium and amoxycillin have very little side effect and the amoxycillin has been found to be one of the most effective things they have tried. We are not so sure about the lithium as it is not quite so inert and we are not sure about possible side effects. Peta was really open to suggestion though and said she would email Dr. Leone so that they could perhaps work on a 'shared care' basis as there are no experts in the UK. We also talked to her about Rosa's quality of life and how that it the only really important thing. She is so healthy we don't want to do anything that will mess with that and also do not want to spend the time we have perpetually in hospital. We are not looking for a solution and we are not going to lose sight of these aims in order to simply prolong her life. Dr Sharples was brilliant at this point and said she totally agreed, there isn't a cure and so helping Rosa to have the best quality of life she can has to be our goal. This sounds obvious but coming from her it meant a lot to us as she is going to be in charge of Rosa's treatment(along with us of course). She also said she is going to refer us to a specialist in metabolic diseases at Great Ormond Street and also possibly another specialist in Manchester.
Rosa needs to have another brain scan in order to establish a baseline so that we can see where we are at and if any treatment we try has any effect. The scan she had already (MRI) is a general scan that looks at the whole brain, basically to see if it looks normal so we need to have a more specific one to look at the problem matter and measure it (MR Spectroscopy). Peta is putting in for an appointment for that so we should get it through soon. We also talked about the genetic side of things, we have still yet to get our test results through which will conclusively prove the diagnosis, although the professionals have no doubt. We can't start any kind of treatment programme until we have these tests back but Dr. Sharples suggested we get everything in place in the meantime. Including referring us to Dr. Turnpenny, a geneticist for our future family plans.
So all pretty much as good as it could have been, she ended by saying how sorry she was that there wasn't a cure and that there hadn't been a mistaken diagnosis but that we could work together to try and make it as good for Rosa as we can. So very positive but also really emotional, any hospital stuff always brings us back with a bump and this was a biggy. Rosa was mellow throughout though she seemed to quite like Dr.sharples....we think she shares our opinion of Dr.Arend!
When we came out of the hospital it was raining, windy and cold so we decided to go home and light the fire instead of going camping, we were exhausted from it all so we had a lovely cuddly evening not in a field instead.
The weekend followed in a rush, two lovely sets of visitors bearing gifts and good cheer. Much food and booze was consumed and the sun reappeared in places. Rosa was very up and down , I think there is teething going on again but most of the discomfort as usual from her tummy, terribly painful farts that take much effort to get out and are followed swiftly by more. No fun at all. But in between peachy mellow blissy babe.....and no predicting which way it'll go. So day to day life continues, up we go and down we come and curse my female hormones, as if I wasn't emotional enough grrrrr! Poor G!
Helen our lovely portage worker has managed to get some funding for us to get a car seat almost immediately which is great news on a bit of a blue day, we also heard the benefits people fast tracked our application for DLA and have awarded us the higher rate which will definitely help a bit.
That's enough for tonight more to follow soon
A