Senior Head of Patient Services and Clinical Liaisons, The MPS Society
I am a patient advocate with over 28 years’ experience of working within the health and social care field. For the last 21 years, I have specialised in rare diseases, specifically MPS and related Lysosomal Storage Disorders. The MPS Society is one of 12 patient groups who have formed the UK Lysosomal Storage Disorders (LSD) collaborative and who represent over 70 rare and ultra-rare diseases. The LSD collaborative is an action group, which strives to advocate and work on behalf of all LSD patients. A key focus of my work is building good relationships with medical teams, to support and promote services to meet the needs of patients. I am engaged in all areas of care and support provided to LSD patients through the NHS’s Highly Specialised Services. My aim is to ensure health care professionals are informed of the unique challenges faced by patients, both clinically and socially and to develop pathways that enable us to achieve joint promotion, shared understanding and to advance standards of care, to ensure the health and wellbeing of patients with LSD’s.
Link to NBS manuscript -The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland https://doi.org/10.1186/s13023-022-02550-z
Breakout session: The NHS Newborn Screening Programme - what is it and how is it evolving?
The NHS newborn blood spot (NBS) screening programme. What are the aims? Who ‘s screened? For which diseases? How do we ensure fair and equal access? What difference can early diagnosis make? Is it enough? What next? Come and find out and take part in the discussion in this breakout session open to all.
My three wishes for the future of rare disease are: earlier diagnosis & implementation of newborn screening; improved care and treatment pathways; and earlier access to treatments.