International Society for Neonatal Screening Regional Meeting, 26-28th April 2009

I was pleased to have the opportunity of attending the 6th ISNS European Regional Meeting in Neonatal Screening, which was held in Prague. It was a tremendous learning opportunity to be able to listen to experts from around the world speaking on how newborn screening programmes were being extended and implemented.

It was a particular privilege to meet Dr Rodney Howell who was presenting on ‘Decision Making on the Newborn Screening Panel in the United States’. I had previously met Dr Howell in 2006 at the Hunters Hope Annual Family Symposium. In his presentation, Dr Howell commented on the significant role that patient advocate organisations, including Save Babies Through Screening Foundation in the USA, had played in lobbying for and achieving the extension to the newborn screening panel in the USA. This is extremely encouraging for us as we move our own work forward in the UK.

Dr Rodney Howell and Pat Roberts

I was also thrilled to have the opportunity to speak with Dr Joe Orsini on his work on newborn screening for Krabbes Disease in New York. Also to discuss with him the situation on Krabbes Disease in the UK, exploring what we might do here.

There are some wonderful things happening across Europe in terms of newborn screening programmes. It was disappointing therefore to see how the UK appears to be lagging behind other European Union countries in terms of their neo natal screening programme, particularly for some diseases where there are already tried and tested protocols for screening and effective treatments for babies and where other countries have been testing for many years.

Through our membership of Rare Disease UK and the ISNS I am certain that we can make a very positive contribution to improving this situation.

Pat Roberts