The second part about the insights arising from the RDD25 aHUS video is about the rare disease familial impact.
(Note: Part 1 link HERE.)
How does it impact and on how many others?
The “how many” has not been addressed before in aHUS research.
Each video participant was asked to say on a scale of 0 to 5, more than 5 to 10, and more than 10, how many others were impacted by having an aHUS patients in their family.
Responses from the 45 participants were 24, 14 , and 7 respectively. Multiply these by the mid points of the first two variables on the scale of 2.5 and 7.5 and also a ” cautious” 11 for the “over 10” and the result is that at least 242 others were impacted.
A rate of over 5 per family.
If that rate was used for the estimated global aHUS patient population in Part 1 i.e. 27, 000, it would result in a 135, 000 relatives or more around the world being impacted from having aHUS in the family.
So what would those impacts be?
The remaining insights from RDD25 aHUS video comes from what each of the 45 said impacted them most. Some reported more than one significant impact so 69 impact factors were captured.
Micaille a participant in the RDD25 video
The table below breaks down the familial impacts reported.
| IMPACT | NUMBER |
| Concern and anxiety about assured access to treatment | 7 |
| Pain and anxiety from treatment administration burden | 8 |
| Fear of any long term effects of treatment | 1 |
| Travel to treatment burden | 6 |
| Stress and frustration with health carers unfamiliar with aHUS | 3 |
| Worry and uncertainty of having an aHUS relapse | 13 |
| Worry and fear of having an infection | 8 |
| Concern about having a family because of pregnancy trigger | 1 |
| Concern and anxiety about family genetic inheritance | 4 |
| Coping with mobility issues | 1 |
| Concern about child’s development | 1 |
| Life style limitations such as travelling, diet, career, fulfilling a role, unfulfilled potential | 7 |
| Financial stress and insecurity | 5 |
| Coping with the lasting psychological burden of it all | 4 |
There were 15 impact themes identified.
Top theme in the list is the worry and uncertainty about having aHUS again. It was traumatic the first time around and not wanting to go through it again is understandable. Another three themes related to the aHUS triggers and genetic inheritance.
The highest number of themes related to aHUS treatment, there were five. From a worry about assured access to frustration with health carers’ lack of aHUS knowledge.
Five others related to coping with the different limitations on their lives.
Four patients summed it up by saying it is was about having to cope with the psychological burden of it.
Words used like anxiety, worry, stress, fear, uncertainty and concern shows were used repeatedly to underscore the mental impact.
Having to cope is true of a lot of things in life but there is evidence emerging of there being something additional for some of those who have survived an encounter with aHUS.
Maybe a more holistic approach to care would help with that.
Finally a thanks to the 45 participants in RDD25 video event including
Cheryl ,Isabella, Tara, Limari, Kyler, Darcey, Pamela, Michael, Henry, Nicolas, Riley, Debbie, Max, Linda, Hussain, Cariann, Sarah, Bella, Sadie, Jace, Taylor, Stephanie, Valerie, Chen, Arielle, Keaton, Henrik/Duke, Siddhiksha, Tun Tun, Teresa, Shan, Diane, Micaille, Joana, Andrea, Camila, Nana, Philip, Sean, Shelby, Gael, Kaylee, and Jackie.
And also for Jeff’s media skills and time.
Patients participating in aHUS and Rare Disease awareness videos always add new insights about the disease which are unlikely to be researched by others.
As the events of Rare Disease Day 2025 fade away these insights will last.
Article No: 715
