The story of Stephen Christmas and Christmas disease
BY Helen Cowan
20th Dec 2023 Health Conditions
4 min read
How a boy called Stephen Christmas gave his name, voice and life to the fight against blood disease
A five-year-old from Canada, born
to British parents, hit the headlines in the Christmas issue of the British
Medical Journal in 1952. Appropriately, his name was Stephen Christmas (while his brother was called Robin), and a rare blood disorder had just been named
after him.
Some thought it frivolous to use a Christian festival for the name
of a disease; the lead author remarked that “everybody read the article because
they thought it was something to do with overeating”. But this was no joke:
Stephen gave his name and his voice—and ultimately lost his life—to blood
disease.
Blood clotting
From the age of 20 months, it
became clear that Stephen’s blood didn’t clot properly. He bled and bruised
easily, often injuring himself on his toys. During a visit to England, a sample
of his blood was sent to Dr Rosemary Biggs and Professor RG Macfarlane at the
Oxford Haemophilia Centre; blood mixing experiments revealed that Stephen’s
blood lacked an important protein, which soon became known as the "Christmas factor",
and his disorder Christmas disease: a “legitimate, unassuming and pleasantly provocative term”, said
Dr Biggs.
"Experiments revealed Stephen's blood lacked an important protein and his disorder became know as Christmas disease"
Today, Christmas disease is known
as haemophilia
B, a rare inherited bleeding disorder. Five times more common is
haemophilia A, caused by shortage of a different blood clotting protein.
"In
haemophilia B, there's inadequate production of a clotting factor called
Factor IX (the name now used for Christmas factor). Before modern treatment, haemophilia was life-threatening. Patients were
often wheelchair-bound from a young age because of bleeding into joints causing
mobility problems” says Professor George Brownlee, a scientist who came up with
a pioneering—and much safer—treatment for haemophilia B. The disease occurs in about one in 30,000 males; females are very rarely affected.
Blood contamination
30 years ago, in 1993,
Stephen died—just before Christmas. His cause of death was AIDS-related, having
contracted HIV in 1985 through blood products used to treat his haemophilia.
Blood transfusions had become in those days, in the words of award-winning
author and journalist Andre Picard, the “Gift
of Death”. The so-called "tainted blood tragedy" ended thousands of lives
prematurely through HIV or hepatitis infection; almost half of all Canadians
living with haemophilia were infected with HIV.
"Stephen became a tireless campaigner for the cause of blood safety and sought compensation for victims"
Working with the Canadian
Hemophilia Society, Stephen became a tireless campaigner for the cause of blood
safety and sought compensation for victims. Tragically, his mother died from a
stroke the day after discovering Stephen’s antiviral medication and recognising
his diagnosis. According to his brother Robin Christmas, in
a later interview, Stephen felt that the "burden of guilt" for his
haemophilia diagnosis, and the shock of his HIV infection, contributed to her
death.
In the UK, support
schemes are in place for those affected by the contaminated blood scandal,
but applying for help can be "demeaning and onerous". The
Infected Blood Inquiry has been seeking answers, and compensation, since 2018
and is waiting to publish its final report. Launching the Inquiry in 2017,
Theresa May described the scandal as "an appalling tragedy which should simply
have never happened".
Link to royalty
Queen Victoria’s family line was tragically
affected by haemophilia B, and so the disease has since been called the Royal
disease. Her son Leopold, Duke of Albany, died from blood loss after he slipped
and fell; on May 29, 1873, Prince Friedrich, son of Princess Alice and grandson of Queen
Victoria, fell through an open window and died from a bleed to the brain.
Queen Victoria was, unknowingly, a
carrier of haemophilia. She passed on the disease through her daughters,
Beatrice and Alice, to the Spanish and Russian Royal families. The defect was
finally discovered in 2009 by genetic studies of DNA of Victoria’s
granddaughter, Tsarina Alexandra, and her affected son Alexis and youngest
daughter Anastasia (killed by the Bolsheviks in the Russian Revolution of
1918). DNA testing of their exhumed bones showed that a single genetic defect
in the Factor IX gene caused the disease.
“Haemophilia B has had an enormous impact on Western history”, writes haematologist Paul
Monahan of the University of North Carolina.
Lost to history?
By 1958, Christmas factor was
officially renamed Factor IX, with other proteins involved in blood clotting named
as Factors I to VIII. Seen at the time as a solution to an otherwise chaotic
situation (with one factor being known by 14 different, unrelated names), there
is now a call to "reclaim Christmas", both when naming the protein and the
disease.
"There is a call to 'reclaim Christmas', both when naming the protein and the disease"
Consultant haematologist Dr Paul Giangrande (who
worked more recently at the same Oxford Haemophilia Centre where Stephen’s
blood disease was first correctly identified) has called for “some of the more
evocative and personal names from the past” to be restored in blood clotting
medicine.
Other stories
Since Christmas, other blood clotting proteins had also been named
after patients, including Stuart-Prower Factor and Hageman Factor. Rufus Stuart
had been a farmer and lay preacher who suffered from bleeding into his joints;
Audrey Prower suffered from heavy periods and significant bleeding during
dental surgery and when giving birth; John Hageman’s blood clotting times were
abnormal. All were missing blood clotting factors, and their stories aided
scientific discovery.
“Just like the classification of
fine wines of Bordeaux, which was devised in 1855 but which remains in
widespread use to this day, we have inherited a nomenclature for coagulation
factors which was established half a century ago but which is now recognised to
be somewhat outdated if not inaccurate, or, at least in some cases, positively
misleading”, writes Dr Giangrande, reflecting on the “impersonal list of Roman
numerals” in use today.
30 years after his death,
could Christmas make a comeback in the world of medicine?
Banner credit: Representing red blood cells (Karolina Grabowska)
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