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.


Ann Marie said...

Hi. I, too, have a little girl with Rett Syndrome. I came across your blog on a google alert. Seraphina is absolutely beautiful. I am so sorry about her diagnosis, and the terrible manner that you received it. We got Abby's diagnosis 2 years ago, and I felt EXACTLY the same way. The world as we knew it was changed. There is a great online support network of moms, and IRSF has some great resources for local support. If there is anything I can do, let me know.
Ann Marie

Kelly said...

It can all be so frustrating for sure. Hugs to you today...if you need anything I am here - Brooklyn is now five ans starting kindergarten but her diagnosis often feels like it was yesterday. No one wants to receive the diagnosis of Rett Syndrome but know that there are lots of moms out there JUST LIKE YOU ready to support you in anything you need!