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Supporting families affected by DiGeorge Syndrome, VCFS and 22q11.2 deletion

Consensus Document

Foreword, written by Richard Herriot

22q11 deletions affect health and quality of life from birth through infancy and childhood to adult life with over 180 physical, functional and psychological associations having been reported.

The phenotype is therefore extremely variable, frequently leading to clinical confusion, diagnostic delay, excess morbidity, early mortality and frustration to both affected individuals and their carers. There is, therefore, a definable need for better awareness and understanding of, and coordination of care in,22q11 deletion syndrome (22q11DS).

Care of patients affected by 22q11 deletions is ideally multidisciplinary and, for many, this requirement is lifelong. Early recognition and optimised, integrated care can achieve much in the way of improving outcomes and supporting affected individuals and families. This was the context and the impetus for Max Appeal! to commission and task a committee of national experts to develop consensus guidance with the purpose of steering and influencing improvements in day-to-day care and strategic organisation of more informed support at all tiers across the UK.

The aim of this ambitious project was principally to compile a comprehensive and universally agreed lifelong care plan for people with 22q11DS within the framework of the NHS. Any value which the document may also have beyond UK healthcare structures would be seen as a welcome bonus by the authors.

The Consensus Document is a comprehensive but practical and accessible information resource which has had contributions from major centres across the UK, stakeholder organisations, families and over 50 experts (either as authors or advisers) working in the major clinical fields associated with 22q11 deletion. The Committee hopes that the guidance and information supplied will be of significant material benefit to all patients and families and those who provide care and support to them. In particular, given the heterogeneous clinical impact of 22q11DS, it is hoped that the document will be of broad professional interest, relevance and utility. Max Appeal! and the expert group is committed to the dissemination of this information as a basis for identifying and applying minimum care standards, helping to avoid the situation where every family has to forge their own path to access adequate care.

Knowledge of 22q11DS is ever increasing. The Consensus Document is not intended to be static or written inflexibly in stone and will be revisited as necessary to reflect significant new insights, practices, processes and structures.

The Committee wishes to express its gratitude to everyone who has contributed in any way to the development of this document and to Max Appeal! for the opportunity to participate in this project.

Richard Herriot
Chair of the Max Appeal! Consensus Document Development Committee

Order a copy of the Professional or Parent/Carer Consensus Document

If you would like a paper version of the Parent and Carers Consensus document or the Professional Consensus Document posting to you, please complete the attached form.
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Max Appeal 22Q Info Cards

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Source: www.maxappeal.org.uk/knowledge/consensus_document

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