Updated Consensus Document - Patients Voice request.

Consensus Document Brief.

It is over 10 years since the publication of UK guidelines for the management of patients with 22q11 deletion syndrome (22q11DS), and since then a full, and ‘pocket-sized’ version of these guidelines were made available on the Max Appeal website, freely available to patients, families and professionals alike. The documents have been extensively consulted, and not just by families or professionals in the UK and they are an important reference source for those seeking guidance around the world.

We have been in the process of updating the document, for most of the information pertaining to the various subspecialties, there have been incremental, but small changes since the original publication.

This latest edition which is nearly in a finalised form, includes a substantial update to the immunology section to acknowledge the establishment of thymic transplantation. In addition two major areas of healthcare for 22q11DS patients were not covered in the 2014 document. The first of these is care in the community, or General Practitioner (GP) – delivered care.

Finally, the transition of healthcare from paediatrics to the adult setting, and ongoing care of adults is important for many diseases. There are more adults than children with 22q11DS, and yet the process of transition and ongoing care was not addressed in the previous document, but a new section covering this area has been added to the revised guidance. The establishment of multi-disciplinary clinics in major centres across the country is also explored – whilst different models in delivery exist, nevertheless these hubs of expertise are helpful for patients, families and professionals alike, and the information in this document may help further centres establish these networks. For many patients and families, navigating the healthcare, social and educational systems can still be problematic and we hope that this document may continue to be a useful reference source.

We would also like to include a section and contributions from member families on the ‘patients voice’ and how the Consensus Document has assisted them in accessing services and support. If you would like to contribute please could you email paul@maxappeal.org.uk in the first instance.