THE name ‘Christmas disease’ might conjure up ideas of a deadly illness that struck over the festive period many years ago.
But the condition is in fact named after the first person who had it – a boy called Stephen Christmas.
Christmas Disease is a blood clotting disorder that is named after the first recorded person to have it, Stephen Christmas
Stephen was diagnosed with the disease in 1952
Stephen was diagnosed with the never-before-seen condition in 1952, when he was just five years old.
But he received multiple different diagnoses before that as doctors struggled to place exactly what was happening to him, including von Willebrand’s disease and haemophilia.
Both conditions affect the blood’s ability to clot and are characterised by bleeding that takes a long time to stop.
According to Journal of Medical Humanities Hektoen International, Stephen accidentally crushed his hand with a toy when he was just 14 months old, causing a large haematoma to form on his hand and forearm.
Though Stephen was born in England, his family were living in Canada at the time, having moved there after the war.
He was admitted to hospital eight more times after that first incident.
But it wasn’t until 1952 that doctors were able to solve the medical puzzle.
While Stephen had previously been diagnosed with classic haemophilia, a team of Oxford scientists who tested the little boy’s blood after being contacted by his paediatrician discovered that he wasn’t deficient in Factor VIII, the protein haemophiliacs usually lack.
Instead, his blood was low in a different protein, which experts christened the Christmas Factor – they later called it Factor IX.
The researchers published their findings in the British Medical Journal on December 27, 1952, just a couple days after Christmas.
The paper was titled: ‘Christmas Disease: A Condition Previously Mistaken for Haemophilia’.
Nowadays, Christmas Disease is often referred to as haemophilia B.
But these findings were a turning point in the study of haemophilia and blood coagulation.
Meanwhile, Stephen’s name became well known among medical circles.
A tragic end
Stephen grew up to study photography at Ryerson University and worked for some years as a medical photographer at the Hospital for Sick Children in Toronto.
Like many people with his condition, Stephen relied on blood transfusions to treat excessive blood loss.
But this spelt tragedy for him as the AIDS crisis swept through the world in the early eighties.
In 1985, at the age of 38, Stephen was diagnosed with the human immunodeficiency virus (HIV).
He wasn’t the only one. According to Andre Picard’s The Gift of Death, which examined Canada’s tainted blood tragedy, almost half of the people with haemophilia living there had HIV by 1989.
As he started a treatment called zidovudine (AZT), Stephen got involved in efforts to secure financial compensation for those impacted by contaminated blood.
His advocacy included doing archival work and appearing in a documentary about the issue.
Stephen eventually received compensation four years before his death.
In July 1993, he was diagnosed with stage 4 malignant melanoma after ignoring a leg lesion for two years.
In December of that year, Stephen was admitted to palliative care and died four days short of Christmas on December 21, 1993.
What is haemophilia B?
Haemophilia B – also known as Factor IX deficiency – is a type of clotting disorder that’s much rarer than classic haemophilia, known as haemophilia A.
It occurs when a specific protein is missing from the blood, meaning it can’t clot in the usual way when someone is injured, according to the Great Ormond Street Hospital for Children (GOSH).
This can put people at risk of losing a lot of blood, which can be life-threatening.
As with classic haemophilia, only boys are affected by it and mums tend to be the carriers of the gene that causes haemophilia B.
The mutation is passed from parent to child in most cases.
But in some cases, the gene mutation occurs out of the blue with no family history of bleeding disorders.
The age at which children start to show signs of haemophilia B varies – they might crop up soon after birth or not become apparent until an injury or surgery.
People with the condition may bleed more severely following injury or for a longer time.
Bleeding can also occur inside the body.
People with the condition have a normal lifespan but they may need to avoid certain activities such as sports which carry risk of injury.
BMJScientists who studied Stephen’s blood first published their findings to the British Medical Journal in 1952[/caption]