If you have genetic mutations in your Complement and/or in related components in your blood which cross talk and hamper Complement’s ability to regulate itself ; and if your TMA has been triggered by a kidney transplant or pregnancy or surgery or drugs or something yet unexplained , and you need a Complement inhibitor, aHUS alliance Global Action will be searching to bring you more information.
The aHUS alliance Global Action’s website has become one of the most active, inclusive and up to the minute aHUS sources online. Written by those affected by aHUS for those affected by aHUS.
What matters to aHUS patients and their families underpins everything that the patient groups that have joined together in the alliance do.
The research agenda created by aHUS patients and families for aHUS patients and families tells us what matters.
Officially adopted by the alliance on Rare Disease Day, 28 February 2019 with the message “you are not alone, we can find a way”, during 2019 the aHUS alliance Global Action website has featured articles related to the topics in your Agenda.
Below is a compendium of those 2019 articles indexed by the topics in the Agenda.
1.1 Are the predisposing genetic and triggering factors of aHUS fully catalogued and understood and will it help to know how variable are the risks of these between individuals?
1.2 When it comes to genetic testing of aHUS family members what is best – to know or not to know -and what can be done with the knowledge?
2.1 Is there a diagnosis sweet spot which can be found before a developing thrombotic microangiopathy turns into a catastrophic episode of aHUS?
3.1 Is there an optimal way in which a complement inhibitor can be delivered to suit an individual’s need?
3.2 Can a clinically effective therapy be developed that is affordable for all aHUS patients?
3.3 Is it more cost effective, as well as clinically effective, for the management of an aHUS patient’s treatment to undertake genetic testing?
3.4 Can a complement inhibitor be stopped safely when not needed by some aHUS patients and what makes them different?
3.5 Is there a significant difference in outcome between having a complement inhibitor before or after a kidney transplant?
3.6 Will there be a cure eventually?
4.1 Are there long-term studies of outcomes of those in remission whether treated by a complement inhibitor or not?
4.2 Can the side effects of treatment using a complement inhibitor be distinguished from those temporary and permanent ongoing ailments which follow initial onset?
4.3 Does the anxiety and self-esteem of aHUS patients vary significantly between treatment types and what can be done to reduce and boost them respectively?
5.aHUS Impact- Socio-Economic
5.1 How does living with aHUS impact on education and work?
5.2 Do aHUS families have all the correct information to make informed family planning decisions?
5.3 How many aHUS patients are there in my local area, my country and the world and how do they differ?
That is it for 2019.
aHUS patients everywhere frequently share information about themselves to each other. Facebook is full of comments to help understand more about aHUS but because of its transitory or closed nature those insights are lost to help the global community.
As well as getting answers, those affected by aHUS can volunteer important insights which can be harnessed for the greater good.
Something to think about for 2020.