The History of aHUS - a mini-report on my disease
It all started with a baby named Barbara
A trip into history, dearest readers,
The story of my disease atypical Hemolytic Uremic Syndrome began not far from the photo of me above in Switzerland.
I had been wondering about the history behind this rare disease that awoke in my body and it all started much like my own story, with a little baby girl.
Barbara, the first patient to be diagnosed with “haemolytic uraemic syndrome,” was a 7 month old infant girl under the care of Professor Johann Conrad Von Gasser in Switzerland in July of 1954.
Little Barbara was anemic and had kidney failure and, unfortunately, she died 30 days later but the term in the medical report “Hamolytisch-uramische syndrome” took on a new life of its own.
Certainly the disease has been around longer, but this is the first use of the terminology that would help lead to research and discoveries around the disease.
Johann Conrad von Gasser himself became affiliated closely with the condition. He was born in Chur, Switzerland and studied medicine in Zurich. In 1941, he became a resident at the University of Zurich’s Children’s Hospital. His bedside manner was described as “extremely careful and child friendly.”
Conrad spent much of his time writing on a wide breadth of medical topics, and in 1949 he wrote a book titled The Haemolytic Syndromes in Children.
In the early 50s, he then began collaborating with Professor William St. Clair Symmers in London.
In 1952, Symmers had described several thrombotic microangiopathic haemolytic anaemias which he shortened to “thrombotic microangiopathy” - another new term for the time.
By 1954, Conrad focused on a group of children who suffered kidney failure in conjunction with hemolytic anemia and he published an important paper on Hemolytic Uremic Syndrome in a Swiss Medical Journal. The paper was based on five young children who died of the disease, identifying commonalities that are the hallmark of aHUS - Anemia, low platelets, and kidney failure. Conrad also could tell this wasn’t simply one disease but multiple syndromes, hinting at the atypical nomenclature that has caused the disease to be a bit confusing to patients and medical professionals.
In the decades to follow, doctors began to differentiate typical HUS from atypical HUS, finding typical HUS was triggered by e coli.
Picking up the work two decades later, Professor Bernard S. Kaplan, formerly at Children’s Hospital of Philadelphia, published Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura. He built on Conrad’s work, stressing the difference in the diseases involved the severe renal impact on HUS or aHUS patients.
Kaplan also suggested correctly that there was an inherited type of HUS that often manifested in recurrent flares and complement problems. Ding ding ding! aHUS!
Kaplan’s theories were validated in the discovery of Factor H, a complement system regulator, by a team of UK physicians in the 1990s, which eventually led to a treatment, eculizumab, that would forever change the lives of all with the disease.
In September of 2011, the drug was approved by the FDA.
Before 2011, life was bleak for folks with this disease, but now, outcomes are looking better and better, especially for those who get a swift diagnosis.
Looking to the future, there are even more drugs moving forward as we head into another exciting moment in the history of this disease.
There might even be a full fledged new name for the disease.
Possibly one day not so far away, atypical Hemolytic Uremic Syndrome itself as a term will be part of the history books too as Complement Mediated-Thrombotic Microangiopathy becomes the new standard accepted name for the disease. Stay tuned…
Learn more at the AHUS ALLIANCE
More on aHUS here:
Did You Miss It?
If you’re new here and wondering, “what happened to this lady?” read The Fighter Still Remains Part 1. xo
If you’re new here, intended to be both memoir and a practical tool to help folks who might be going through something similar or those caregivers and family supporting someone with a challenging diagnosis. I hope to include excerpts here as I write. NOTE: This is not intended to replace actual medical guidance. Please consult your doctors on your individual challenges and situations. Also names have been changed for most of my medical staff.
Thank you to CC Couchois, Roy Lenn, and Dr. Richard Burwick for your founding level donation.
Hi Ashley I did the research that Taylor used in her story. Von Gassers work has been covered on the aHUS alliance website for several years. The history is now being covered in a series of article called “Before aHUS Endeavours Fade” . Similarly there are many articles on the different HUSs plus articles on new names for them. This article is one that shows the cause of the confusion. atypical HUS name became more commonplace 25 years ago. Prior to that it was HUS/TTP predominantly and was discovered over 100 years ago as a “clumping disorder”.
https://www.ahusallianceaction.org/ahus-is-confusing/
Thank you for digging in & researching our disease further, Taylor! I found this article very interesting; especially since I've never heard anyone mention Baby Barbara or her story. I was always under the impression that aHUS wasn't discovered until about 20 or 25 years ago. Great job unveiling this history!