aHUS is known as a family illness. It was seen as something different from HUS when different family members experienced it at different times.
It was called “familial” HUS.
It was thought to be due to some genetic differences in some members of the family. Something predisposed them to it ,whilst other family members were not. It was thought these differences were in the Complement System.
For over 20 years genetic differences or mutations have been looked for and found in the Complement System. The genetic differences in components of the Complement System have been catalogued and there are hundreds which have been found to be relevant to aHUS.
Many are yet to be found.
This article’s author’s family has been found to have one of these genetic differences even though the author has not had aHUS. In fact aHUS has skipped several generations of his family before hitting his daughter. HIs mother, grandfather , great grandmother , great great grandfather did not die from renal failure, according to their death certificates. His great great great grandfather William Purchase (1791-1859), a farmer, did have a cause of death which was plausibly aHUS. “Dropsy” describes the filling of lungs with fluid. Although this could happen for a number of reasons, it is something that does result from kidney failure without dialysis.
But why could William’s possible kidney failure be due aHUS?
It could be coincidence but William lived in a farming community in the County of Devon in England where even today there are many more aHUS patients than there should be in county with a such small population. Those families have the same genetic difference as the authors , so we are family , albeit we had no idea of each other.
Furthermore our common ancestor ,who first acquired the mutation and passed it on, may have lived many generations and centuries before for it spread out through the family branches of his / her descendants. They may now be even tenth, or more, cousins.
Another family which is associated with aHUS are the Gassers. Conrad Von Gasser ( he used the Von not as a sign of nobility, but to emphasis he was from/of the Gasser Family)
A quick search of the Ancestry.com public database reveals that Conrad’s father’s family were descended from Hans Jacob Gasser (1732-1817) who lived in a small ancient settlement called Hallau in the canton of Schaffhausen, north of Zurich , near where his 4x Great Grandson was to work in a children’s hospital
The Kinderspital Zurich is where, 65 years ago,Conrad was to spot something about the cause of death in some children which would lead him to naming a disease Haemolytic Uraemic Syndrome. Or “Syndromes” because he saw there were two types. One of which became aHUS.
Hundreds of miles separated the Hans Jacob and William whose lives overlapped at the turn of the 18th/19th century. 200 years later their lives are now connected through family historic branches. Binding one family which identified a disease, and another family whose illness is said have linked a difference in Complement to eculizumab.
So too with the family historic branches of Dr Leonard Bell and Prof Tim Goodship and many other families who have helped aHUS patients and their families today.
There are many thousands of historic branches in the aHUS Family , genetic or otherwise.
Why not tell your “family” story in the aHUS Awareness Day video . Information about how to participate can be found here.
aHUS Awareness Day is on the 24th September , see ideas for participating on the day by clicking here.
*The featured image includes two of the author’s uncles ( left and centre) taken during World War 2. They were both to survive the War yet die from aHUS in the years following.