Thursday, 30 September 2010

Seraphinas dream wish....saga

Seraphina has never had a wish granted by a charity,so when our old keyworker suggested it some months back we jumped at the chance.As we hadnt got a WAV (for those of you who dont know what one of these is it stands for Wheelchair Accessable Vehicle) and so there was no way we could go out together as a family,the keyworker suggested a foldable buggy for use on daytrips and to enable us to go on holiday.

The paperwork was filled in by the keyworker and she chose a buggy for us saying that she knew a famil who had just had one of these buggys and she would bring it out to show us and try Seraphina in it.

The months drifted by and so did our chance of a summer holiday together, I had more or less given up on our application being successful. Then out of the blue a phonecall saying that Seraphinas pushchair had been approved and it would be delivered the next week! Wonderful I thought :)

When the pushchair arrived it was immediately obvious that it just wasnt suitable any longer, silly me had forgotten how in the last 12 months Seraphinas condition had meant that she had regressed from the level of development she had previously been at, extra tube 'attachments' had been added and more support was required to keep my little girl in a sitting position.
What had been provided was a standard 3 wheeler buggy with a normal 5 point harness and what was listed as a 'Medical needs bag' was in fact a simple net shopping bag underneath. Even the 'postural insert' was something more suited to a much much more able child who only needed mild support, not a child with movements she cant control, limited trunk control and who is prone to extensor spasms and Seizures.

I debated what to do...some people I suppose might have immediately listed it on EBAY and put the money towards a more suitable pushchair, far easier than anything else,but as a Christian I just couldnt do something like that.
To be fair Promise Dreams (the Charity who had funded this) were lovely about it.They ,thankfully had heard of Rett syndrome and the regression it caused and so said they would contact the Company (Recare) who had sent the pushchair and explain the situation and ask for a refund which could then be put forward for another pushchair or another 'dream'.They advised me to do the same.

I phoned Recare and,full of apologies I explained the situation (though with hindsight I dont know what I was apologising for....Im sorry my child has Retts and not 'just' cerebral palsy as before? Im sorry she has regressed and is much less able than she was and much more sick??
They asked me to put in writing why the buggy wanst suitable and sent me pictures of the only other (and equally unsuitable buggy) and said someone would phone me on Monday.

No phonecall came...I tried phoning myself and was met each time by an answerphone. So I emailed them.
A few hours later I had a one line email saying they were waiting to hear back from Promise dreams.

Meanwhile I looked into other 'dreams' for Seraphina. I didnt have to look too far as Seraphina decided that evening to demonstrate to us that she understood far more than we had ever imagined.We had been trying to communicate with her by eye gaze since Retts had taken all her speech but one night whilst I held her Peppa pig toy and pressed the buttons for her I said 'wheres peppa pig?' and she took my hand and made my finger press the Peppa pig button! I laughed thinking it was a fluke and said 'ok then,wheres danny dog?' and got the same exact response.I felt tears pricking my eyes...could it be?
she say looking at me with her ands clasped and her steryotypical wringing movements getting faster. 'Wheres the umbrella?' I asked and then held my breath.she reached for my hand and I said 'No,YOU do it use YOUR hand', and I separated her hands. She looked at me again and then with what can only be described as utmost concentration she moved her hand forward shaking and twisted round so that her thumb rested on the button saying 'Umbrella'. I wish I had had someone with a video camera at this point.I exclaimed with excitement..'you really understand dont you!! and hugged my amazing little girl.From that tearful wonderful moment onwards I KNEW what Seraphinas dream would be...a communication aid,a means to telling people what she wanted.I felt like I had wittnessed a miracle.

So I trawled through online catalogues and brochures and phoned companies asking about different Communication aids..Tobii s32,touchscreen computers and Ipads the list was endless until I found a video on utube of a little Girl in America with retts who was using a communications package which loooked absolutely fantastic! Decision made. Now to get back in touch with Promise dreams.

I phoned promise dreams who were once again really polite and explained with embarassment that Recare had told them that in order to courier back the pushchair from us  and 'repackage it' (um why as it had been put straight back into the bubblewrap it arrived in) it would cost £200 which would have to come out of Seraphinas allocated dream money!!!

heartbroken is not the word, we looked online at trading standards whose website suggested that according to the distance selling regulations they should NOT charge for postage back OR repackaging...and CERTAINLY not £200!!

The pushchair was couriered back to them....the documentation from Parcelforce clearly stating that the cost was £31.88 hmmmm.....
I do wonder how some people can live with their conscience knowing that they have ripped off a charity whose sole aim is to grant wishes to life limited children and knowing that one little girls wish of being able to communicate has been dashed in order to keep their companys books balanced.

So for now Seraphina will continue to live trapped and restricted and I will live with the knowledge that she understands so much more than we thought and feel  as I do now,that I have failed my little princess. She blessed me with a magical moment in which she tried and succeeded in letting me know how much he wanted 'a voice' and I have failed to provide her with the means to do so.

Its not a good feeling.

Wednesday, 29 September 2010

An Open Letter to Special Needs Professionals (just had to share this)


New teacher, or therapist, or doctor? Is that you?

Oh hello...

I just wanted to chat with you a second. To caution you. Or warn you.

Please, tread carefully.

You see, what you might not realize as you look at me, talk to me, tell me your opinions, our options, our lack of options, and your predictions of our outcomes is that; well ... you see that heart?

The slightly broken, definitely bruised one?

Yeah, that’s my heart.

My slightly-broken, definitely-bruised heart.

Now, I realize that as you look at me you might see ... a confident parent ... or an angry parent ... or a happy-go-lucky parent...

You might think that I understand everything ... or nothing ... or that I have all the experience in the world because I have done this before ... or that I know the rules ... or that I don’t know the rules and that is for the best... You might believe ... that I am high maintenance ... or overreacting ... or maybe neurotic ... or disengaged and uninterested ... or that I don’t really care ... or maybe I care too much...

But regardless of what you see, what you think, or what you believe, this is what you should know:

I am broken-hearted. And it doesn’t matter if it is the first day or a century later. It doesn’t matter where in the “grief cycle” I might be. It doesn’t matter if the wounds are healed, or healing, or fresh and new. This heart is bruised. Slightly broken. Different than it once was and will ever be again. And when you speak, or don’t speak, in judgment or not, my heart is out there.

Some of “us” parents ... the ‘special’ ones ... can be a pain in the ass. I know that. We know that. But we are fighting a fight we never planned to fight, and it doesn’t end. We don’t get to clock out at the end of the day. We don’t get a vacation from it. We live it, everyday. We are fighting without knowing how to fight it, and we depend so much on you to help us. We have been disappointed, by you or others like you. And we are disappointed in ourselves.

We are your harshest critics. We are our own harshest critics too.

We are genuinely fearful, and driven, and absolutely devoted. And we also know, we need you. So please, be careful with us. Because as hard and tough as we may look outwardly, our hearts are fragile things.

~ By: Pia Prenevost

*I received this in an email from another Rett Mom and thought it was just TOO amazing not to share, it is like the words were taken right from my heart and mind!

a friend posted this on facebook,the sentiments are mine exactly,so so true I had to share as I am sure there are many other 'special' mums out there who will relate to this x

Thursday, 16 September 2010

Its been a bit full on..

This week has been a bit of a mixture to be honest.
On Monday we had our initial visit from the representative from Acorns Childrens hospice.Those that know me will know that I had been dreading this meeting.We had the referral done months ago by our Community Nurse and as long as it was this vague 'referral' and nothing concrete then everything was  fine and I could happily file it in the back of my mind as something I didnt need to deal with now but sometime 'in the future'.
I had quite honestly thought of a hospice as somewhere children went to die...well in truth I suppose it is but I found it was also a lot more and the hospice lady I was so dreading meeting was actually the nicest person you could ever wish to meet!
She wasnt pushy,she wasnt judgemental and actually she was remarkably easy to talk to and I found myself talking to her more than I have ever talked to anyone.She showed me pictures of the hospice and ...well I dont know what I expected it to be like but whatever exactly my pre-concieved ideas were it WASNT .It looked like an extremely bright sunny and happy place and I could already see how Seraphina would love the sensory room and the garden.
I breathed a sigh of relief.Im still nervous of actually plucking up the courage to use the place but its not the gloomy hospitalised place I thought it would be and actually it was nice to be able to talk honestly to someone who 'KNOWS'  If you see what I mean.

So that was the the afternoon was another big appointment...the first one with Seraphinas Consultant in about 10 months.I really didnt know how this was going to go...
She was lovely as ever, I found myself unable to say how 'dumped' we had felt with no means of communication.She too has a lot on her plate and although I still believe that Seraphinas diagnosis could have been delivered in a somewhat more sensitive manner I was also reminded on talking to her exactly why all those months ago when she spoke to us on the ward,why she made such a lasting impresion on me and why I was determined that she would be Seraphinas consultant one day.She is human, I think she does truly care and I do think that she has Seraphinas best interests at heart.When I think of all the rubbish we went through with her neonatologist and how that nearly caused me to have a complete melt down, all the totally unfounded accusations we had been put through before she had her diagnosis of Cp and then Retts I thank God that we have this Consultant now.Its so nice to have a consultant you can have truly honest discussion with and who respects you back.

So Seraphina has Retts,of course one of the first things we asked was about life expectancy. She was honest about this and said that she had had a girl not unlike Seraphina who had Retts and she ,in her words 'managed to get her to 19'..... but of course this child didnt have the complications of Cerebral palsy,prematurity and as the consultant saifd 'she didnt have Seraphinas bowel'.In the next sentence we decided that 'lets just try and get her through the winter'

Its daft isnt it I found myself going 'Wow' as if 19 this was some grand old age like 102 or something.Only afterwards did I think....and process....its really nothing at all and the prediction of the consultant at BCH or 6 or 7 is even less.likewise the challenge of 'lets try to get her through the winter' looms even larger as a bear under the bed does when you are 3.

I comforted myself with the fact that she had been fairly stable healthwise for the summer so we were on the up,right?

But no,Seraphina obviously detected my optimism and decided to throuw a spanner in the works.she had a seizure on Monday evening, another on Tuesday Morning and then on Wednesday she was so so uptight and irritable she was like a little animal grinding her teeth,scratching her arms and legs, air swallowing for England and moaning 'Mmmmmmm,mmmmmmm' continually whilst wringing her hands and scratching her palms so much she split the skin on them.I tried everything so soothe her,gave paracetamol but nothing would stop these repetative motions..she was also withdrawn in her own little world...almost not quite 'with it' if you get what I mean.
I actually posted on FB when she finally dropped me singing Eva Cassidy's 'somewhere over the rainbow' a song which she loved.
And then the seizures started lots and lots of myoclonic jerks which woke her up repeatedly she drifted off only for them to come again and again and then she went rigid arms flexed eyes open and head turned to the left followed by tremors.This was accompanied by her sats dropping...thank GOD we have a sats monitor as this has saved her life more than once.I watched it step down in increments to 85% and just sit there.I pnhoned a friend at that point to ask them to pick up the children as i knew I wouldnt leave her.Then as I wa on the phone she decided that 85 wasnt spectacular enough and chose 78% as her 'number of choice'.I dont truly understand why her sats were so low as she was breathing quite rapidly and noisily but looked very very pale. But hey ho I decided ,this had been going on for 6-7 mins and so I gave her Buccal Midazolam.Thankfully this worked but when I phoned the Com Nurse it was decided as her sats were still wobbly on double the o2 she usually has that she ought to be seen by the Paeds at hospital.
So a while later I was in the Taxi to hospital.She had only got sats of 91% when she arrived there still on double o2 so it was decided she should have a chest xray.
Once again whilst waiting I got the student doctors,this does make me laugh especially as you hear them at the desk beforehand deciding who is going to get the 'short straw' of interviewing us lol.I did mention to them we always get the students because Seraphina is probably a Paediatricians nightmare lol...they had to agree, who says hospital is without humour!
Anyway we then saw a very nice male consultant who wanted to keep Seraphina in and give her antibiotics.He thought she had a Urine infection and that she had probably aspirated when she was fitting....we 'discussed' her staying in *grin* with the result that he prescribed antibiotics for her and we went home :) think he realised that it wasnt a good idea to mess with me rofl! and to be honest she was more likely to catch something else in hospital!!

So we have been at home, she hasnt been particularly happy and her tummy is dishing out lots of what I term 'shrek bile'...if you have seen the movie you will have noticed the particularly violent green colour of this character (the people of Sheffield childrens hospital now know exactly what I mean now and appreciate my 'way with words'  :)
However she hasnt fitted again so I am giving her the benefit of the doubt until the AB's have kicked in.
This sudden unexpected outburst has reminded me how poorly she can get quite suddenly though and I have to say I am dreading the winter even more now....lots of praying needed I think.

Sunday, 12 September 2010

No real reason for this post other than to share with you this wonderful picture of my little girl without her oxygen on.She has such wonderful brown eyes,I love my girl so much.If a look could spur me on to make everyone aware of Rett syndrome and the importance of finding a cure ,then this is it. Love you sweetheart,more than you'll ever know x

Wednesday, 8 September 2010

Results day

Today I came home to find a letter on my was a photocopy of a letter sent to Seraphinas Neurologist.In it was a copy of the printout from the regional genetics service detialing the specific mutation Seraphina had.

Seraphina had been 'diagnosed on presentation' as having Rett syndrome as well as Cerebral palsy but had blood taken to look for any Mutation on the MECP" gene which would confirm that diagnosis.This was in February...

I ended up chasing the results myself last month with Rett UK's help (who incidentally are fantastic,especially Julie their family support worker)The results got sent to our consultant who was then completely unavailable to give them to us!

Despite phonecalls from Rett uk to both the geneticist and consultant and assurances from both they would 'be in touch' we had nothing,no appointment,no phonecall...we just had to sit and wait.With that waiting came the tentative thoughts that 'perhaps they were wrong' and Seraphina had ony a developmental delay,something that could be 'fixed' somehow if only I trawled through the internet looking for the right therapy,the right 'answer' to all her problems.

I spent many sleepless nights researching therapys and reading about Nerual plasticity etc etc until my brain hurt.

Two weeks ago we had a letter from the geneticist in Birmingham.stating matter of factly that Seraphina had a Mutation on the MECP2 gene and they needed blood from both David and myself..'oh and please get the sample taken at the begining of the week as it makes it easier from a transportation point of view' tagged onto the end.

Their bluntness astounded me...what can I say.I wanted so much more information then,which mutation (I knew little enough about the genetics surrounding rett syndrome but enough to know some mutations were much more severe in their outcome than others)...I phoned the geneticist and was told she would phone me back....two hours later i had a message saying she was too busy to speak to me.....

Anyway back to today....still no letter/phonecall from anyone regarding this potentially devastating condition.

The letter contained a photocopy of the results from genetics which had been sent to the Neurologist,physio,OT everylone locally involved in her care stating that she had a Mutation which had not been previously recorded...she is the only child with this specific mutation so far. Typical for my Seraphina always wanting the limelight and doing things 'her own way'

What saddened me is the fact that everyone else dealing with Seraphina had been sent this leter before we had even had chance to have a discussion with her consultant ourselves!

David phoned the consultant straight away only to be told she 'wasnt available',when he stated that so many professionals had been sent this letter before we had had a chance to discuss her diagnosis she miraculously became available. Re the letter her only response was 'well you kind of knew anyway'

To put it into perspective my husband used this analogy...say you went to the hosptial and the consultant said 'Im sorry but i think you may have Cancer,we will do some tests'

YOu have the tests and await the the meantime you have a letter come through saying your tests show a cancerous growth...would the consultant then say 'oh well you kind of knew anyway'??

Needless to say the vague hope that they may have been wrong ended today.Today I feel like the bottom fell out of my world.

Rett syndrome is such a competely devastating condition.My girl is lost to me with no immediate hope of cure trapped inside a body which wont let her live like a normal little girl.

But we will move on...Rett syndrome has already been reversed in a Mouse model,it is possible we just need to find the cure/therapy which will do it in humans.

I hope that this story so far and all i post in the future will serve even in a little way to make people aware of what is a little known syndrome.To show the reality of what real familys face and the journey they take with a child like my darling Seraphina.

And on a lighter note...the piggies (had you forgotten them?) she has a new favourite.....Mikey :)(his pic is at the top of the page) named after the very lovely Mike who sold him to me.