This is the fifth Rare Disease Day that the aHUS patient advocacy group has participated in.
Back in 2012 most of the issues facing those with rare diseases were impacting on aHUS patients. The key issue was that research had produced a treatment but not all in the UK could access it.
Today there is a aHUS patient story in The Times newspaper for Rare Disease Day. Click here to read
What is remarkable about the story is that the patient only became ill on 17 January 2017 but by the end of February, just six weeks later, the patient is on the road to recovery having been quickly diagnosed and had eculizumab prescribed and administered.
This is exactly what aHUSUK wanted for all aHUS patients.
Although this is the experience for most of the few new onset patients, it is not the case for all adult aHUS patients in England. Diagnosis still has barriers to overcome.
For children with aHUS, the concentration of paediatric expertise into 10 centres has been of great benefit to aHUS children because of quicker diagnosis and access to effective treatment; probably at the pace the adult in the newspaper article experienced.
London and the South East has established a Thrombotic microangiopathy (TMA) network centred on UCL. In that region if someones is identified as having a TMA they will be “blue lighted” by ambulance , as would be the case for suspected heart attack patients, to an expert diagnostic centre at UCL. Some aHUS patients met Dr Marie Scully, the lead for the UCL unit, at the last aHUSUK AGM. Most of those with TMAs will likely not be aHUS but aHUS benefits still.
We now have an aHUS expert centre at the National Renal Complement Therapy Centre for prescription and maintenance of treatment but for some adult aHUS patients the gap between that and where they live may just be too great.
Let’s hope that by Rare Disease Day 2021 the progress will be just as great and all have the quickest diagnosis and best of outcomes.
Articles like the one in The Times help more think aHUS and that is what you need to do diagnose it it makes such a difference for aHUS.