Rare Disease Implementation Group Meeting, Cardiff, 29th February 2016

Carolyn Grundy, one of our patient representatives from Wales, shares her report on this meeting.

The UK Strategy for Rare Diseases was published in November 2013; the current meeting was to monitor and assess the progress of this strategy in Wales.

The strategy comprises five specific areas:

  • Empowering those affected by rare diseases
  • Identifying and preventing rare diseases
  • Diagnosis and early intervention
  • Coordination of care
  • The role of research

Areas of concern

The first presentation concerned the priorities for 2016/17. Two areas of concern were mentioned as being ineffective use of resources and the coding of Rare Diseases, while the importance of consolidation, collaboration and evaluation was stressed. It was also regarded as very important to empower patients and their families to manage their conditions and that the Health Boards in Wales need to be told what is necessary in this regard.

A member of Genetic Alliance UK gave a presentation on empowerment. She said the main concern was the waiting time to receive a diagnosis. She pointed out that most patients would take part in research if the opportunity were offered and that a Rare Disease Patient Network was launched in October 2015. Two patients attending the meeting, who have moved from England to Wales in the past few years, said that the management of their care had been much better in England than it is in Wales.

Improved diagnosis and early intervention

With regard to diagnosis and early intervention, it was important for GPs to look at the whole patient, not at specific symptoms. GPs need to be made more aware of Rare Diseases and must accept that the patient and his or her family probably know rather more about their condition than the doctor. Patients should be encouraged to ask questions. There should be more ‘red flags’ for GPs, to alert them to important symptoms, which should be acted upon. It is hoped to develop more of these prompts.

The Congenital Anomaly Register and Information Service (CARIS), based in Swansea was mentioned as a rare disease database. Wales is the only one of the UK countries with such a database.
 Other Wales specific services include the All Wales Medical Genetics Service, which provides genetic testing and Healthwise Wales which is a long term population study register, the idea being to collect data when the patient is well and look for differences when he or she becomes ill.

It was hoped that, in future, there will be a move towards amassing data to look for anomalies, rather than asking specific questions.

It was stressed throughout the meeting that this was a long-term ongoing strategy, which was still in its early days.

Posted March 2016