Genetics are important when it comes to aHUS. Yet genetics does not feature in the name of the disease not even the part of the body Complement which is at the heart of the disease. Nor the problematic mechanism that brings it about. Just the impact on two organs , the blood and the kidney , are included.
But genetic differences ,whether identifiable or not, influence the diagnosis and prognosis and susceptibility to aHUS. Those affected by aHUS are becoming very aware of how those differences make a difference. Their personal differences matter to them in living with their condition whether they have already or yet may have an onset.
In doctors speak those differences are in their GENOTYPE.
The topics raised and included in the Global aHUS Patient Research Agenda nearly all reflect a desire to know how their genotype fares in the aHUS encounter.
The aHUS Patients Research Agenda was officially launched on Rare Disease Day 2019 and was four years in the making. It had involved over 200 of people affected by aHUS from the thousands around the world living with aHUS.
The first topic on the Agenda is about genetic factors and the risks they pose for causing aHUS.
But that is followed by wanting to know whether knowing genotype is helpful and practical. Does it help determine their individual treatment? Whether that is In a clinical and/or cost effective way, including stopping treatment when no longer needed. And would it influence any subsequent remission following withdrawal. It even includes whether genetics could guide a family planning decision?
But perhaps most significantly can the genetic difference be changed?
Would genetic answers have helped the “Sisters from Missouri”
Those living with aHUS are aware of genetics and probably know more than the average person as a consequence. So are they and those close to them the best placed to express whether knowing the difference in differences is a good thing or not.
Note : Featured image is of Dr Marina Norris explaining to Len Woodward of the aHUS alliance the equipment set up in the laboratory of the Research Centre In Bergamo, Italy.