Rare Disease Day 2018 had the theme of research. As its contribution to Rare Disease awareness this year , the aHUS alliance facilitated an aHUS awareness video ,which in its self was an example of what research is about. ( View the video on Youtube by clicking here)
119 aHUS folk participated in the video, of whom 16 had their lives cut short by this dreadful disease; and reflect the level of lives lost (12.5%) which can be expected in these modern times. The others provided some information about their aHUS experience in response to 5 questions.
The alliance can now report on what collectively those 103 participants – the aHUS Rare Disease Day 2018 Cohort – have revealed about aHUS in their endeavour to raise awareness about aHUS around the world.
Apart from the cohort size ( n=103 , i.e. “research speak” for size of sample for statistical purposes) their participation demonstrates the cohorts’ collective motivation to spread awareness about aHUS and its active “openness” in the social media.
Being at ease with the social media and motivated explains why USA patients generally contribute to such surveys and this was the case in the video 49 USA patients participated just short of 50% of the cohort. Remarkably the “rest of the world” patients provided the second biggest group at 29 or just short of 30% of the total which is an encouraging development in patient advocacy.The remainder were 25 european patients ( including EU).
Although it was not a question, the images and names provided information about the gender of this cohort of aHUS patients , which is predominantly emale at just over 70%. This is slightly higher than what would normally be expected ; but it is consistent with other studies which show more females than males with aHUS.
The average ages of onset and current ages of 15.5 years and 21 years, reflect the higher proportion of children ( less than 18 years old) in this cohort. The avergages are about 6 years less than would be usually be the case ( 21 years and 27 years respectively). However the difference between average age of onset and current age just less than 6 years living with aHUS, which is not far off what would be expected.
The youngest patient was just 3 months old, indeed onseting within the time frame of this project and the oldest is 68 years.
It is not very often that a survey of triggers of aHUS episodes is seen, and so the aHUS Rare Disease Day 2018 cohort have provided a unique insight into what was believed to have been the “hits” that started the onset of the disease for them.
Viral infections, like colds and flu, preceded most aHUS onsets (41) But almost 1 in 3 reported that the did not know what triggered the illness which is a key feature of the disease, apparently perfectly well then “WHAM” .Bacterial infections, including E coli, accounted for 10% of cases. There were 6 pregnancy cases which is a common trigger for adult female aHUS patients . Vaccinations/Hormones and Drugs, although very infrequent, have been reported as triggers.
*Includes Bee Sting, Bone Marrow Transplant, Colbalmin Deficiency, Chemical poisoning, Inflammation,Operation and Stress.
The second aHUS Rare Disease Day 2018 Cohort Report will reveal what this group of participants have told the world about their genetic predisposition , their current treatment and experience of dialysis.