Yesterday I attended the Dravet Syndrome UK (DSUK) conference. It was a most interesting and informative day, delivered by medical professionals, about the severe epilepsy syndrome our 18 year old son suffers from and it focused my mind on our own charity's remit. The Muir Maxwell Trust was set up in 2003 in our son Muir's name to provide practical support to families struggling to cope with their child's difficult epilepsy. The work of the Trust has always followed the experience of raising Muir and because of our own struggle with Muir we resolved to help improve quality of life for other families challenged by similar circumstances in severe and complex epilepsy.
We didn't know at the time that Muir had Dravet syndrome, the result of a mutation in the SCN1a gene. That genetic diagnosis came when Muir was eight years old and was the result of sending his DNA to Australia two years earlier. The test cost the NHS £2500 but it gave us a positive diagnosis. It was a 'good to have' diagnosis but at that early stage in genetic diagnostics there was no obvious path to follow. That's why our trustees at Muir Maxwell Trust agreed to fund a genetic diagnostic service for childhood epilepsy, based at the Royal Hospital for Sick Children in Glasgow. The service was lead by Dr Sameer Zuberi and focused initially on diagnosing Dravet syndrome for children in the UK.
Until that point the Trust's funds had never been invested in anything scientific but focused on providing immediate practical support to improve quality of life, including an improved diagnostic process. Although research is part of the Trust's remit it has never been a priority over improving quality of life for our families. For the first time this project offered us the opportunity to do both and importantly, genetic test results were available within just 40 days at no cost to the NHS, enabling earlier intervention and more effective treatment. We also funded a Muir Maxwell Trust Fellow to work with the data emerging which was considerable, resulting in numerous published research papers in world class medical journals. Today over 500 children have been diagnosed with Dravet syndrome in the UK alone and another charity called Dravet Syndrome UK (DSUK) has resulted, hence the DSUK professional conference I attended yesterday, notwithstanding the fact that the DNA service in Glasgow now extends to a number of other complex epilepsies as well as Dravet Syndrome.
It was therefore gratifying to hear the opening speaker from Paris, Dr Rima Nabbout, at yesterday's conference refer to Dravet Syndrome as being "our star amongst severe epilepsy syndromes" and although much is still to be uncovered about this devastating disease, considerable progress has been made. Dr Elaine Hughes referred to "the work of (Dr) Sameer (Zuberi) and his team as 'pivotal' " as she went on to discuss the complex problems of Dravet syndrome beyond the seizures, including behaviours, sleep disturbance, gait issues and eating disorders - all of them necessitating an active referral to other health services, something we know does not always happen. Carol Edwards who is an NHS Systemic Family Psycho-therapist spoke of "the trauma of Dravet syndrome" for families in its "severity, unpredictability and longevity," referring to families as having "a life-long sense of unresolved horror."
During much of this I had to take a deep breath as I realised this is was our life they were describing. We too are a Dravet syndrome family and these life-long challenges are what we face on a daily basis and have done since Muir had his first seizure at the age of four months. Hearing the words from someone else's mouth somehow makes it okay to say 'that's us.' That is us! But we are not alone amongst Dravet families and indeed, whilst our knowledge and understanding of Dravet syndrome has highlighted many of the challenges that face our children and families, these problems are by no means exclusive to Dravet syndrome but characteristic of a number of other severe childhood epilepsy syndromes, some of which our genetic diagnostic service in Glasgow is already testing for. Hopefully one day we will know more about other epilepsies too that in turn will also contribute to better access to care.
In the meantime, I was thrilled to learn that our Muir Maxwell Trust Fellow, Dr Andreas Brunklaus, who worked with all the data and has contributed so much to our understanding of Dravet syndrome through his published research, has now returned to Yorkhill Children's Hospital in Glasgow as a newly appointed consultant paediatric epileptologist. This is truly a great result and evidence of excellent use of charitable funds by the Muir Maxwell Trust in those early years. The DNA service goes from strength to strength too with a new Fellow in post and routine genetic testing being carried out in Scotland on all children under three years of age presenting with their first seizure.
So what of the Trust's remit? It remains the same - to provide immediate practical support to families struggling to cope with their child's epilepsy in order to improve their quality of life and to raise awareness of severe and complex childhood epilepsies. The work of the Trust has always followed the experience of raising Muir, identifying weaknesses in services, establishing those services and evidencing the long-term value in those services so that they may be continued by other long-term funding partners.
Presently we are focused on a campaign to highlight and communicate in vivid detail the desperate needs of children and families to health and social care services and governments. Both Westminster and Scottish Government are failing to recognise that many of our families are not coping with family life as a consequence of the sheer horror and relentless challenge of their child's severe and complex epilepsy. There is an urgent need for much more support in the home and also in school, they need more respite and for some families, particularly when their child becomes an adult, their coping mechanism fails and long-term residential care, with hospital support, becomes a necessity. Of this there is little or indeed, no choice for too many families and this must change if tragedies are to be avoided.
In terms of our fundraising which goes on simultaneous to our campaigning, our fundraising efforts of today we hope will soon translate in to a further scientific break through on the early identification and better treatment of other severe and complex epilepsies and also enable studies of some of the causes of epilepsy and eventually identify the cures.
We are ever hopeful as long as we have the means which is the funds.
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