Rare Disease Group
The evidence base in Alport Syndrome is small, but there is a very important education gap which it is the group’s first priority. Patients report a frequent lack of clinician understanding of the complexities of:
- Accurate diagnosis, using clinical and genetic criteria, in the light of the latest knowledge and rapidly advancing ability to undertake and understand the limitations and results of genetic testing
- Advice on risk to female carriers of X-linked disease
- Advice around risks of pregnancy, and risk to offspring
- Understanding of rare complications
Even for patients who have seen a geneticist in the past (a minority), understanding has advanced and the advice and information given now may differ. So we believe that our first priorities are to:
- assemble and make available clear information for clinicians caring for patients, as well as for patients themselves
- including making it clear for Commissioners ‘Who should be tested’
- establish contact details for advice on specific issues
- make it clear how to approach the group for clinical advice and how to enrol patients in the group
In time this may lead to specialised regional clinics, made possible by recruiting more interested clinicians as the project develops.
The Alport Group was established in 2011 under the auspices of Kidney Research UK to raise awareness and funds for research. Its timing fitted well with improvements in genetics and the timescale for rare renal disease registries in the UK. Alport was one of the first new groups to launch its registry in 2012.
Deborah Fielding and family with Charles Kernahan (CEO of Kidney Research UK), and Alport group members Neil Turner, Colin Baigent and Frances Flinter at the Group’s launch at the House of Lords in February 2011.
A meeting for interested patients was held in London in December 2012.
The second Alport Syndrome Support Day was held in Edinburgh on Saturday 7th September 2013. Details can be found on the Alport pages of the EdRen site . To contact the Alport Patient Support Group please e-mail meetings@alport.info.
The 3rd National Alport Syndrome Information Day was held in Birmingham on Saturday 7th February 2015, 10am – 4pm. The day featured a number of short talks on different aspects of the condition, including genetics and organ transplant. Further details about the day can be found on the new Alport UK website.
Group members are closely in touch with European Alport groups. Action for Alport’s has also established links with the Alport Syndrome Foundation of the USA, which is in turn linked to groups of varying size and activity in Argentina, Australia, Canada and other countries.
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None reported