Proper blog...

Hello to everyone! We have decided to move Rosa's Chums over to a proper blog as not everybody does facebook and it is a bit silly to be doing a facebook post and then also emailing the non-facebookers.. if you follow me... We are new to this blog malarkey but it seems fairly straightforward, apologies if it don't work quite right to start with. Access is (hopefully) restricted to invitations from us only, so we shouldn't have any strange folk (well that we don't already know) visiting... The story so far................................................
Hmm, it looks like Blogger is going to try and force you all to have a Google account to view this blog... sorry about this, we didn't realise it at the time, will have a shufty about to see if it is really necessary...

Hello! We have been thinking that we would like to write a blog type thing to keep everyone up to speed on where we are at. Thank you to all for your phone calls, texts and thoughts, it really means a lot to us. The story so far, apologies for those that already know the nitty-gritty, is that Rosa was referred to the Child Development Centre (Highfield House) at the beginning of December because of concerns over her physical and mental progress. Nothing then happened until January when she was assessed by ear, eye and paediatric specialists.Her hearing seems fine; vision possibly not so great. She was referred on to an eye consultant at Barnstaple who could find nothing physically wrong and so referred her on to Exeter for Electrodiagnostic tests and Bristol for a MRI scan of her brain, which was also recommended by her paediatrician who is concerned that there may be an underlying neurological issue.He also has booked Rosa in for an EEG in Barnstaple to check out the possibility of Epilepsy and has requested blood tests for a whole range of things including some pretty obscure conditions. We have just had the MRI and are waiting for the results but in the meantime the 'Joint Agencies Team' have swung into action at Highfield House and we are now attending a special nusery group twice a week, Mondays and Fridays. On top of this, we are starting Portage with a home visitor every week (Weds?); monthly visits from a Visual Impairment Advisor and have consulted with speech and language peoples.... Oh yes and also a couple of meetings with the paediatric physiotherapist who is a lovely person and has already started Rosa on a regime of exercises etc and is providing equipment for us to use at home and at nursery. Phew! As you can understand, we are somewhat overwhelmed and at times panicky/emotional about all this, it's not quite what we imagined life would be like at this point.....
Anyhoo, thats where we are (in a nutshell). Life at the moment is about waiting for appointments and trying to just get on with it. In the meantime, Rosa does continue to delight us, she is more beautiful than ever and makes us laugh often. We are still noticing constant development in all areas, it is slow but it is there nonetheless. We will, of course, update y'all as and when we know stuff...... Please feel free to respond/ask questions/just be in touch etc. it really matters to us and we do appreciate it =)

Thursday 12th March
So, we were assessed (again) by the portage lady on weds. and Rosa's portage worker proper starts soon (next week?). Although it has been explained to me quite a lot of times still not entirely sure what it is but everybody who has experience of it says good things so we'll wait and see....
Rubbish day today, apprehensive about more tests in Exeter tomorrow but more so about MRI results. Dr.Arend, our paediatrician said he may have some results after about a week (the nurse said 2 we reckon add that together and times by 2, maybe) but we couldn't bring ourselves to phone today, both a bit low. Can they only tell us good things please?
Also Rosa is teething which should feel like a lovely normal baby thing but unsurprisingly doesn't help. Top tooth through at last hooray! Another one hot on its heels....but better today than yesterday I think.
Sunshine would really help, roll on Spring. A xx

Friday 13th March but not as you would expect!
The electrodiagnostic tests in Exeter went pretty well. They were quite quick and Rosa was very good throughout. The tests consisted of having electrodes on her face and head while bright different coloured lights were flashed at her. The man doing the tests said at her age the results are very decisively good or bad and hers were good. In essence the message is getting from eye to brain and brain is responding as it should as far as they can tell. This is really good and a relief after Bristol last week where we weren't told anything in terms of results. It does though, somewhat rule out her delays being caused by a failing in her eyesight which was a long shot but would have been lovely and straightforward to address.
So we'll wait and see some more. We will phone Dr.Arend on Monday, just in case he has some feedback from Bristol but we are not holding our breath.
Rosa's big front tooth is finally very much through! Hooray hoorah!
We stopped off on the way home to catch up with Alice and Nuala,(Rupe was shopping) and it was lovely to see them even though it is always a bit tricky seeing other babies I'm determined not to hide! Also have lovely bestests coming for the weekend so that'll be everso nice and distracting before more stuff next week. Thank you again for all your lovely support xxxxxxxxxxxxxxxxxxx

Monday 16th March
Well, not surprisingly we didn't get hold of Dr.Arend today although G spoke to his secretary twice and she has promised to get him to call us tomorrow as he was in meetings all day today. He has been quite good about phoning back in the past but we think it is pretty unlikely he will have heard anything yet. Teething continues, another one through at the bottom and judging by the dribble and frequent meltdowns of today the other top biggy any moment. The normal baby stuff added to all the other worries is one of the hardest bits. When she is happy it is all OK and we are mostly quite optimistic but when she is screaming queen sensitive it is very hard. But anyway...despite much shouting this morning we decided we would go to nursery and see how it went. Very glad we did it seemed to be just the distraction she needed and it is lovely that she actually seems to really like going there. Smiles for everyone as soon as we'd arrived , the first we had seen all day! Sally the physio popped in again and showed me (again) how to do stretching with Rosa so that her limbs/hamstrings don't become tight because of her lack of mobility. Apparently it is good to do a bit every time we change her, so little and often like all the physio stuff. She says Rosa has a lot of tone in her legs and is maybe overcompensating for her lack of tone in her upper body so we have to try and keep her loose all over....Sally also mentioned getting us a snazzy if slightly intimidating fully adjustable clever supportive highchair thing for use at home as well as in a little while a walky frame thing to help her to get used to being on her feet a bit. She also said we are entitled to get a special pushchair if we think it'll be helpful...which it might well be but there is no rush at the moment. Sally is very sweet about offering us all these things and is so sensitive to how we are feeling I nearly always have to fight off tears when she is talking to us...why is it that it is people being nice which gets to you, maybe it is a female thing.
Rosa did fabulously in the group, not phased at all by two of the other babies having screamy fits she was just smiling and wriggling away. Lovely to see.
So thats about it for today, more exciting news as it breaks! xxxxxxxxxxxxxxx
PS G put a video on, not sure if it told you, but scroll to the bottom of the page for a moment of happy Rosa!

Tuesday March 17th
G spoke to Dr.Arend's secretary again this morning and she (slighly annoyingly) had a different story to yesterday. She said their computers were down and she hadn't been able to get anything from Bristol but would phone us this afternoon, then didn't. Hmmm. G pointed out though, you would hope if any of the nuerologists looking at the scans over the past 2 weeks had seen anything dramatic we would have heard about it by now. I hope so.
Rosa was teething horribly again today but wonderfully distracted by swimming this afternoon. A visit from Lian the visual impairment lady tomorrow, I hope she doesn't take the fibre optics away! x

Wednesday 18th March
We finally managed to get hold of Dr.Arend today. He phoned us back this afternoon to say he had the results of Rosa's MRI. He said that the brain scans were not completely normal and the results seem to confirm/explain our concerns over Rosa's development, he didn't want to explain too much on the phone and so we are going in to the hospital tomorrow afternoon at 5 to talk things through with him....Although this isn't word for word as G says he was a bit palpitaty* when trying to take it in. We are trying very hard (as usual) to be optimistic about it and think that he said not 'completely' normal which maybe means not a world away from, we hope. Horrid and awful scary but we are still hoping that as we learn more it'll become more manageable and maybe he'll say she should just grow out of it?...Anyway to be honest we're trying not to if and but about what he might say as we've been doing that since we knew she had to be scanned so we have speculated on every possibility and untill we know something it is all a bit circular. Not much longer to wait now.
Lian the Visual Impairment adviser came round today. Another member of the Highfield House joint development team so she knows all the other people that are working with us and is another sweetie. I have been so incredibly impressed by the team and how great and personal and unhurried they seem to be. On a positive note she hasn't seen Rosa for a month and was really impressed by the improvements she could see. This was really fab and encouraging as we don't notice everything as we see her all the time and so often are very much existing in the moment. She was also quite taken aback by the amount of lunch Rosa put away (which wasn't particularly huge by Rosa standards.... Daddies girl!) Lian said she would like to come and visit about once a month but will tie her visits in with portage so they come at the same time. She brought some funky toys with her for Rosa to look at, bash, roll. She didn't take away the fibre optics (yay!) and left us with a large fluffy orange ball this time which R liked at the time and was very unimpressed with later in the day.....She mentioned applying for benefits and there is also help to buy kit if we want but we are going to play it all by ear for now. She says you have to paint a pretty gloomy picture and we are trying really hard not to do that at the moment. So thats about it for today, early night tonight in preparation for epilepsy tests at hospital in the morning and consutation with Dr. Arend in the afternoon. Big deep breath, its all going to be fine. xxx

Friday 20th March
OK folks, we saw Dr.Arend last night for Rosa's MRI scan results and it's not good news. In fact it's as bad as it can get. They are fairly certain (more tests to confirm) that Rosa has a very rare brain disorder called Canavans Disease. It is a progressive, degenerative disease for which there is no cure and Dr.Arend said that Rosa will probably have a short childhood. There has been some groundbreaking research done over the last 15 years, mainly in the U.S., which has yielded some good results through gene therapy but who knows if or how to get access to it. We are going to meet the consultant paediatric neurologist at Bristol soon to discuss everything further and to see what our options are. Needless to say, we are devastated by this news and don't know which way is up at the moment. Hopefully we will get through this initial shock and grief soon and just get down to the daily enjoyment of our beautiful little girl, who knows nothing about all this and is still concerned with important things like food, teething and having fun.
Sorry for the bombshell and the brief nature of this post, more soon and thank you to everyone for your love and support. G xxxxx

Sunday 22nd march
It seems the dust has settled a tiny bit and we have all started to re-direct our thoughts from the depths to anything we can do to prevent or postpone the onset and development of this disease. There are tons of things that are worth considering and over the next while Rosa has an incredibly devoted team of researchers on her case. Thank god for the internet (or maybe not god...)
In the real world we decided that we had to try for as much normality as possible and in a surreal way we have had a really nice few days. We went to nursery on Friday (with apprehension as Rosa was really tired and we were mostly still very emotional) but it was absolutely the right thing to do, she just loves it, as soon as we arrived she perked right up and smiles for the nurses followed by a great session with her physio and a squeel of delight when presented with her halftime yoghurt. She was in her element and alert and smiley for nearly the full two hours exactly what we all needed.
The rest of the weekend we have spent with family who needless to say are also in shock but are all being fantastic. The sun shone, our garden is full of flowers and Rosa had a lovely few days. Life is very strange and emotional at the moment and we are both aware that reality is about to swing back into our faces but in the meantime the inescapeable fact is that Rosa is more with us and more beautiful every day and that is what we are trying really hard to focus on. x

Friday 27th March
As you would expect it has been a fairly hard and in places horrible week not least because the star of our show has been teething like a banshee for much of the week including most of last night :- ( We are very aware this is just normal baby stuff which everyone has to deal with it's just having all the other stuff filling our heads that makes it so hard. When she is a happy bunny it all feels more manageable, we will just become a family of hedonists and live for the moment which will be fine, but when she is in discomfort for whatever reason it seems impossible not to reflect on the negative and drift into thoughts of our future which is still far too big and wrong for me to consider.
G and I are dealing with it in quite different ways. He needs to be busy and is researching and emailing experts all over the world. He has also made a start on filling out all the stupid paperwork so we can get some financial help to get us through this first bit untill we feel a bit more able to function. Extremely practical as ever. Not quite sure what can be said about my own coping stratagies, mostly Rosa and Gareth adoration, trying hard to focus on the present. Also been doing some drawing which is wonderfully absorbing if not terribly constructive but just getting through each day. We have known for a week now and although the shock has worn off a bit the sadness seems to intensify.
We are going in to the hospital on Monday morning for them to take our blood in order to confirm the diagnosis but we cancelled our appointment today with the eye consultant as there is nothing wrong with her eyes and the less time we spend in hospital the better.We are still waiting to hear about an appointment with the nuerologist, so far the most 'urgent' appointment they had to offer was the 1st of May, just not good enough so we continue to stamp our feet on the phone to various secretaries.
So life goes on, our evenings mostly consist of drinking a bit too much wine and talking untill we can't anymore. We are both extremely grateful we are so solid in our relationship and as a unit, the 3 of us ought to be invincible.....
Nursery is fantastic still and Rosa seems to love it, also being the youngest (and most beautiful!) she is very fussed over.
That is kind of where we are at the moment, muddling through each hour at a time.Thankyou to all of you for your thoughts, nice post and posts and texts. We do feel very loved which definately helps.
We feel blessed to have her and know that although this is an extremely difficult time we will have good times again and they will far outweigh the bad ones x

Sunday 5th April
It has been another very hard week with not much news and a lot of teething and colds. I kept hoping that I was going to have a better day and feel a bit more positive and like writing but good moments have been a bit thin on the ground. So I thought I'd better write anyway.
I've been pretty angry recently, not with anybody or anything but with our situation and how suddenly everything in our life has been rattled and shaken so that everything that we had planned or dreamed about or imagined can't be, at least not in the same way. I do realise that plans about the future are always subject to change, that's half the fun, but not like this. The worst one is realising how many assumptions I have made about life and all the tiny realisations that break them down. Her beautiful perfect long legged little body has been making me intensely sad of late, a complete waste. Apologies for going on, this isn't mean't to be a blog about me.....
G's research continues. He has joined a canavans forum and has been exchanging mail with fellow parents, mostly in the US but more recently a couple of families in the UK. This is quite hard going as we are still so fresh to it all and some of the stuff the other families are going through is pretty full-on although to them it has become everyday. He also filled in the evil DLA (disability living allowance) form for us to get some financial help. They are insensitive gits who design those forms and it was a very difficult task. So we have both had several many meltdowns this week, I guess this is the reality slapping us in the face.
Of course there have been brighter moments. Family and friends continue to be wonderful and thoughtful, thank you all so much.
Nursery is still ace despite Rosa having her first screamy fit there this week. Apart from that she had another fab session on Friday, over her cold at last it seems and up for it again. At the risk of repeating myself the joint agency team are fantastic and I am so glad we have all these fab people working to help Rosa as much as they can and in turn help us get through this. They are all so sensitive and kind and calm, I couldn't ask for more.
The Neurologist on the other hand continues to elude us. Ironically and rather infuriatingly G emailed the worlds expert on Canavans in America and not only did he receive a detailed reply within an hour and a half, they had already heard about Rosa's case from another parent on the forum. This was quite bittersweet when it is hard to even get hold of our neurologists secretary, let alone speak to the actual person. If 5 weeks is urgent I dread to think how long routine would take. Sorry I sense I'm ranting again. So it still looks like the 1st of May at the moment, but that isn't so long now.
We had our first visit from Helen our portage worker on weds. It was an unofficial one as she doesn't start properly untill after easter but lovely to meet her, very bubbly and raring to go but also aware of our fragility and had a heap of info to give us about family fund, another way to get some help to buy specialist kit or anything we think might improve Rosa's or our quality of life, including a holiday, apparently! She also brought a couple of toys for Rosa including a big switch that we can record our voices or sounds (raspberries in G's case) onto. When the button is hit it repeats the sounds quite loudly...and to our delight she has got the hang of it very quickly and with a determined expression and much effort wacks the button repeatedly. Wonderful small pleasures, at the moment must be appreciated.
We also all went to hospital on Monday to have our blood taken to confirm the diagnosis. It will probably take several to many weeks.
Anyway, I have just realised how late it is. I'll update as news breaks, in the meantime could that bloody tooth come through now please....

Monday 13th April Rosa's 11 months today!
On Friday I wrote a whole big update and pressed the wrong button so I am actually writing this all for the 2nd time, I’ve only just got over it and it’s not so fresh as it was!
Another week has passed already. This week I think has actually felt a bit more positive, not least because we went camping in our van for a few days. Rosa has also been on better form, the cold’s finally mostly gone hoorah. Camping was pure escapism and total bliss to get away from everything, no post, no email, no appointments, just the three of us, the weather, walking and lots of food and booze. Camping in the van is the business, it doesn’t matter what it’s doing outside we were all cosy and dry. There was a huge storm which woke us all up in the night but we snuggled back down and woke up to blissful sunshine, Rosa is also a very happy camper which helps too. Exactly what we all needed but of course a shock to the system coming home, we sort of wondered why we had, plenty more storms to be experienced this summer I think.
We went to see Dr.Moody, our GP last Monday. He had written to us a while ago saying that he had heard about Rosa’s diagnosis and was concerned for us all and if there was anything we wanted to talk about the door was open. We were really glad to get his letter, I’d been thinking about making an appointment and his letter was the encouragement we needed. There were a few fairly major things which we wanted to bring up with him, the first being the possibility of being able to talk to some kind of counsellor, probably on an individual basis. I am very aware that I have been able to maintain my position of head in the sand to a certain degree purely because of G’s kindness and desire to protect me. I also know that in our usual lives I am his confidant and at the moment he is holding back to a certain extent and I feel he has so much on his plate already I don’t want to add to it. We can both talk to family and friends but they are also all very much emotionally connected. It seems that it would be really good for us both to be able to ‘vent’ at an impartial person. So we talked to him about that, he said Devon is a bit crap for counsellors but he’ll contact the paediatrics and failing that the children’s hospice and let us know as soon as he finds anything out.
There is also the huge and still very sensitive subject of more babes. We really feel that we don’t want this huge sad thing to trash our lives forever although of course it is going to scar. We have planned to have a family, we really want Rosa to have sibling/s and although I am having huge doubts about everything including being a parent at the moment I know I’m just working through stuff and the fundamentals haven’t changed. There are questions that need to be asked as soon as possible not least because of my age, I’ve never wished myself younger until now! So we asked some questions and it seems once our blood tests come back and confirm the diagnosis we will be referred to genetic consultants to talk about what our options are.
We also chatted about what his role will be in the scale of things and he reiterated that his door is open to us, he is our GP and if there is anything he can do to help he is available which is very nice to know.
We finally heard news of the elusive neurologist, it turns out she has been away; if only her secretary had mentioned this we could have saved a lot of foot stamping! Dr. Arend’s secretary called us to say that there is a possibility of an appointment on the 17th, in Bristol this Friday; she should be able to let us know tomorrow.
I think the only other news is that we got Rosa’s appointment through for music therapy to start on the 22nd, intriguing! She responds so well to sound all the professionals think it would really benefit her development and it sounds like fun. It will be a 10 week course and it seems the first session at least is a one to one. Will let you know how it goes but we’re all looking forward to it. All the other therapy’s are off for the hols so we have actually done a smidge of work this week which feels pretty good.
Again it bears repeating, you are all being so fab thank you so much. This time is so difficult but everyday there is an email or card or something which reminds us how loved we are, even if we haven’t replied directly we really appreciate you all. We are actually looking into making this a proper blog as lots of people don’t do facebook and that was just an easy way to start it off. Will let you know if we get any further with that. But again it’s late. I think there is much more to write but can’t remember now, won’t leave it so long next time. Typing in word from now on…hooray for autosave!