The Genetic Alliance UK held an informative conference at The Dragon Hotel, Swansea on 23 October, 2013. Those who attended were patients or representatives of patient groups like AAW. The overall aim of this meeting, one of several held throughout Wales, was to collect information about patients’ experiences of accessing services and therapies in Wales. The information and views of Alphas would be useful in the preparation of a report that would help to plan a UK strategy.
The well-organised conference concentrated two matters: Diagnosis and Accessing specialist services for patients with a variety of illnesses which are known as ‘rare diseases’. The first session emphasised the wide range of conditions which created different problems and experiences for individuals and their families. However a number of common themes were identified. Sometimes there was no referral to specialist services and some patients had attempted to make self.-referral if that was possible or they had to pay for private consultations. The unanimous view was that specialist services and advice should be available, and furthermore that early intervention was necesssary for the health of the patients. The main aim of any strategy was that ‘genetic counselling ‘ should be paramount, and the awareness and knowledge about any illness or condition were essential for both patient and doctor. A further positive step would be support for other sufferers and their families. This has been recognised by AAW, and action has been taken to try to let Alpha families meet to discuss and to offer mutual support.
The second theme of Accessing specialist services and therapies highlighted other important issues which need to inform the report of the Genetic Alliance. The absence of a ‘Care co-ordinator’, who might inform patients of the availability of services, was thought to be essential. After diagnosis of an illness it was strongly suggested that an assessment of services for the particular individual should be made. The representative of Muscular Dystrophy said that a ‘Service Guide’ had been produced for its members.The document gives lists of contact details for various services e.g. An A-Z of benefits, entitlements and other support; making a complaint about the NHS including letters to the Chief Executive of your local NHS body or Ombudsman; the Independent Complaints Advocacy Service (ICAS) which has local ICAS offices in England, and in Scotland there is Patients Association and a Board of Community Health Councils in Wales; and there is a comprehensive contact list for its members. Another invaluable information source was the Advocacy Pack, produced by the Muscular Diseases group, which explained how to get Social Services assessment and benefits. This details care packages, employment and support allowances (ESA), personal independence payments(PIP) and the Blue Badge. AAW has attempted to provide reliable and helpful information on such matters through the excellent work of Wendy Richardson who sadly is no longer with us. The question of funding services and medicines was also highlighted. Some illnesses have adequate financial support. The availability of Individual Patient Funding Requests (IPFR) was pointed out as being another source of help. The requirement to have NICE approval for medicines was noted and that is relevant for Alphas. The failure to integrate local and specialist care was again emphasised as it had been when the issues of diagnosis were examined.
The report will be ready by early 2014 and a meeting will be held 11 February 2014 at the Senedd , Cardiff . Rebecca Evans, AM will host this Rare Diseases Day. We look forward to a positive response to the issues which have been discussed in the meetings held in Wales.