The Scottish Lysosomal Disease Conference, Edinburgh, September 2010

The LSD Conference was held for families in Scotland, to allow individuals, parents, partners, carers, patient advocate groups and health professionals to meet and have the opportunity to hear talks on the clinical management of those affected by LSDs, as well as finding out more the latest research developments and potential therapies. As part of the UK LSD Patient Collaborative, Save Babies UK attended and helped support the conference.

Melanie MacPherson, Vice Chair of Save Babies UK introduced the work of Save Babies UK and explained how she had been involved from the outset of the Charity following the death of her son Jack from Krabbe Leukodystrophy. Melanie gave the background to how Jack was born an apparently healthy baby and how he became ill and was diagnosed with Krabbe Leukodystrophy. She explained a little about how Jack was diagnosed which was quite rapid in comparison to some UK families with sick children who can have difficulties getting a diagnosis and how she felt about having a terminally ill child.

Melanie outlined the key objectives of Save Babies UK, in terms of supporting families affected by Krabbes disease and other Leukodystrophies and also in advocating the extension of the newborn screening programme in the UK. Although Krabbes disease is a rare disease, nevertheless six children in the UK have been diagnosed since May 2010. In explaining why newborn screening is important Melanie advised that the UK tests for only five diseases at birth whilst other countries test for many more. In the USA they test for between 40 and 60 diseases at birth. Melanie gave the example of the fifth disease to go onto the UK NBS programme (MCADD) which was introduced only last year and it took eight years to introduce which is an unacceptable timescale. This is not rolled out fully for Scotland until 2011.

From a patient viewpoint, children in other countries are being diagnosed with rare diseases at birth, receiving treatment and surviving with good quality of life whilst in the UK, children are still suffering disability or death because rare diseases are not diagnosed and treated at the earliest opportunity. Save Babies UK are doing a number of things including raising awareness, building the evidence base from other countries that test for more diseases with the intention of using this evidence to influence change in the UK, and also our work as part of the Prevention and Diagnosis working group within Rare Disease UK.

Melanie described the Patient Advocate Group for Newborn Screening that has been established by Save Babies in the UK. She outlined the membership of the group which is supported by scientific and diagnostic advisors. Also that the UK LSD Collaborative members are on hand to add their expertise and advice on particular LSDs as required. There are many issues and challenges currently being considered by the PANS Group, including many ethical issues around expanded newborn screening, the issues surrounding informed parental consent, raising awareness at a national level, education and training for health professionals, promoting consistency in programmes in all countries of the UK, scarcity of data, transparency and planning for extended newborn screening, keeping pace with new developments in drug therapies and healthcare, influencing the National Screening Committee and the DoH and the challenges of resources in the current economic climate.

September 2010