Childhood Onset Dystonia 18th June 2011

This story is purely based on my 6 year old son Robbie, Robbie suffers from Idiopathic Generalised Childhood Onset Dystonia and as we are now leading up to a possible deep brain implant, I will regularly be stopping by to update his story and progress...

I think we need to start out with what has happened with Robbie to date and then this blog will be updated as we no doubt wander down this yet to be known course of treatment and the doubtless rollercoaster of emotions we as Robbie's parents go through up to the outcome (who knows how long this process will take)

My aim is to give any parents in the future, who may go through a similar experience a help to understand they are not alone on this frankly horrific and mind numbing condition. It has been the most difficult year of our lives watching what was a healthy and normally happy 4 year old spiral downhill, and have problems with motor co-ordination, however we have been given fresh hope for Robbie with this relatively new experimental surgery

It is 19th June 2011 and here is where we are so far...

Robbie was 3years 10 months when we first took him to our GP as his hand seemed to be constantly drawing in to his body, he is now 6 years old, the doctor referred us to a GP at our local hospital, in time the specialist at our local hospital kept sending Robbie for epilepsy tests every few months and it became apparent over time the consultant did seem stumped and could find no diagnosis or reason for this happening, we were advised one and a half years later by the consultant throughout which time Robbie was subjected to a variety of tests, the consultant  advised that he believed the condition was non-progressive, and as such Robbie was assigned to an occupational therapist to try and develop his fine motor skills.

A couple of months later Robbie developed an issue with his right leg and we arranged another visit to the consultant, who again tried to send Robbie for EEG tests, and began looking at his bloods and eyes for answers, as we painfully watched Robbie worsen rapidly with both legs soon being affected I wrote to the complaints department at my health board as we had now been hanging on for two years, obviously this was a most stressful time for us as parents as we had no indication of either a diagnosis or prognosis of his condition. Robbie now has a wheelchair which we use if going any distances etc as he struggles to walk very far.

After we raised the complaint with our local health board Robbie was rapidly passed over to a neurologist at the Sick Kids in Edinburgh, Dr Eunson who put Robbie through several tests and investigations, and eventually after ruling out many potentially worrying conditions we were advised Robbie has idiopathic early childhood onset dystonia. This has now further led to Robbie being administered medicines, with a view to possible deep brain stimulation with Dr Linn in London.... which is where we currently stand...

Robbie has since been referred to the Evelina Hospital Childrens Hospital in London... and this is where the blog begins... This will be updated on a regular basis and will serve as both a diary to myself and any others who may want to occasionally pop by to read...

(6pm) - 10.06.11 - An article which had been picked up by STV (Scottish televison) news was broadcast across Scotland, in this the aim was to raise awareness of this mainly unrecognised condition, watch if you like here... http://news.stv.tv/scotland/east-central/256563-boys-family-campaign-for-better-recognition-of-dystonia/

(6am) - 19.06.11 - Up at 5am, stomach churning thinking of the trip from Kirkcaldy in Fife, Scotland all the way down to London.... Robbie and the rest of the family still lying sleeping. So a bit of quiet time to sit and reflect on what lies ahead of us, Deep Brain Stimulation sounds a good option, to be fair after several months on medication it is pretty much our last option, so (and I am not a religious type of guy by any manner) I pray this will get results we need for Robbie to have a better quality of life...
This will be the first night we have never spent together for all my family, sounds strange in this day and age, but we are a very tight, close family unit... and to be honest, deep down I know it will be difficult.