From eponym to advocate: the story of Stephen Christmas

Peter Kopplin
Toronto, Canada

 

Stephen Christmas on a leafy patio, reading

Picture of Stephen Christmas. Courtesy of Robin Christmas

The 1952 Christmas issue of the British Medical Journal (BMJ) had an unusual but fitting article. It was titled “Christmas Disease, a condition previously mistaken for haemophilia.”1 The seminal patient was five-year-old Stephen Christmas and the title suggested an unusual lack of British reserve. Rosemary Biggs and colleagues were giving the condition a degree of panache. After all, a slightly different subset of hemophilia patients had already been detected by other researchers, a fact acknowledged by the Biggs group.2, 3, 4

In the BMJ’s next issue, two letters chastised the Biggs group.5, 6 With brilliant wit, Biggs catalogued alternative names. Recognizing that the cause of Christmas disease was likely related to a precursor of thromboplastin called coprothromboplastinogen, she wrote that they had considered “hereditary hypocoprothromboplastinogenemia” but thought it awkward.

“Biggs-Dacie-Douglas-MacFarlane-Merskey-O’Brien-Pitney syndrome” was rejected out of modesty. One colleague recognized that the disease might be called “X” as in the Greek letter, but everyone wanted to avoid calling the missing precursor the “Christmas Eve factor.” Summing up, Biggs felt that Christmas Disease was a “legitimate, unassuming, and pleasantly provocative term.”7

The paper described seven non-classical hemophilia patients. One difference was that their blood when mixed with blood from a classic case shortened the prolonged clotting time, a feature of hemophilia. Biggs’ group characterized some of the features of the missing clotting factor, showing it was different from the anti-hemophilic globulin that was missing in classical hemophilia. They called it Christmas factor (now Factor IX).1

The now famous Stephen was born on February 12, 1947, in England. His father Eric was an actor who worked with the Royal Air Force Gang Show that toured Allied bases entertaining the troops during World War II. Following the war, as there were no jobs for English actors, the family emigrated to Canada. There the senior Christmas found work with the Canadian Broadcasting Corporation and Stephen’s mother, Patricia, became a medical librarian.8

As a baby, Stephen bruised easily. His first admission to The Hospital for Sick Children (HSC) was at fourteen months, when he accidentally crushed his hand with a toy. A large hematoma developed in his hand and forearm. Over the next four years he had eight further admissions. The diagnoses included von Willebrand’s disease, idiopathic purpura, and pseudohemophilia, as well as hemophilia.

His pediatrician, Bernard Laski, coincidentally had advanced hematology training in New York City under C.H. Smith, one of the authors of an early paper on the hemophilia variant cited by Biggs.4 In 1951, the lack of family history caused Laski to seek an opinion from Boston’s distinguished Louis Diamond, who concluded that Stephen had classic hemophilia.

His unusual blood patterns caused Laski to send blood to Robert MacMillan, who was working at the adult Toronto General Hospital. MacMillan began university in 1934 in a pre-medical course heavy in botany and zoology. One of the students’ botany demonstrators had been a young English PhD candidate, Rosemary Biggs.9, 10

Anxious to become a doctor but discouraged by her parents, she had opted for botany. After completing a BSc in London, she left for graduate studies in Toronto. Concluding her PhD, she returned to London and studied medicine at the Royal Free Hospital, graduating in 1943. She then took up work at the Radcliffe Infirmary in Oxford.9

Following his medical graduation in 1941 and a war-shortened internship, MacMillan spent four years in the Canadian Navy. Towards the war’s end, he began pathology training in Toronto in preparation for going to the Pacific theatre. A chance meeting with a visiting pathologist, Oxford’s Alastair Robb-Smith, later proved fruitful.

When the war ended, MacMillan’s thoughts turned to England. His English wife, who had come to Canada in 1939 with a girls’ cricket team, had not been home for six years. They landed in England in the spring of 1946. After a year in London, he joined Robb-Smith’s pathology department at the Radcliffe Infirmary, where he again crossed paths with Rosemary Biggs. She was collaborating with R.G. MacFarlane, a well-known English hematologist. He began his research with her on the reliability of the contemporary hematology tests including the bleeding and clotting times. Because of MacFarlane’s interest in hemophilia, MacMillan absorbed the variations in clotting times characteristic of these patients.10

The diagnosis of hemophilia depended on symptoms, male incidence, family history, and a prolonged clotting time. Work at Oxford showed that when normal blood was added to hemophilic blood, the clotting time shortened. When blood from a known hemophiliac was added to a suspected hemophiliac nothing changed. However, occasionally when blood from two known hemophiliacs was mixed the clotting time was shorter than either specimen separately.11

This was the mixing test that MacMillan performed on Stephen’s blood sent by Laski in 1952. Noting that when he mixed Stephen’s blood with that from a known hemophiliac the clotting time shortened, he called Laski for more blood. The family had left for England on holiday.

MacMillan had earlier suggested to Stephen’s mother that if difficulties developed in England to contact John Dacie or Rosemary Biggs in Oxford. He wrote to Biggs about his mixing tests results.

The Christmas Disease paper and the science surrounding it marked a progressive period in the study of blood coagulation. In retrospect, Biggs noted that the advances in testing that led to the discovery of Christmas Disease helped R.G. MacFarlane realize that therein was the treatment. The quantitative assays would allow the preparation of concentrates of different coagulation factors.12, 13

When a method to purify factor VIII as a cryoprecipitate from human plasma was developed in 1965, it revolutionized hemophilia care.14 Soon blood products rich in Factor IX and other factors became available. They aborted acute episodes and allowed for safer surgery. Eventually home therapy reduced the hemophiliac’s reliance on hospitals. Tragedy struck in the eighties when the AIDS epidemic swept through North America and the rest of the world.

Stephen’s life marched in lockstep with these historical currents. In Toronto, he completed elementary and secondary school. During his adolescence, his care was transferred to Robert MacMillan where he was often hospitalized on an adult Ward G. It was a Nightingale style ward populated by an economic cross section of patients. For a teenager, this must have been intimidating.

However, his experience was poetically incorporated in his first year at university when he won an undergraduate literary award for his recollection of Ward G. The bittersweet writing describes his interactions with two fellow patients: Wong, a confused Chinese patient, and Charlie, a sick, indigenous Canadian Cree about to undergo heart surgery. An unusual tenderness towards his sick fellows flows through the essay, presumably welling up from his already lengthy experience with illness.15

After a year at university, he left for a college photography course. Work followed in HSC where his first admission had occurred. Photography remained a lifelong interest. Although he never exhibited formally, his brother’s family is the custodian of a photograph collection.

Leaving HSC, he worked as a film editor and taxi driver. Given his obvious intelligence, his vocational life seems limited. His brother Robin saw this as a reflection of his conviction that his life expectancy was twenty-one years, that of hemophiliacs in the early sixties. As a result, he limited his formal education and never sought his own taxi license.8, 16

From the late sixties, hemophiliacs benefited from great advances in therapy. But by the early eighties the first hemophiliacs were being diagnosed with AIDS. By 1989, 49% of the Canadian hemophilic population was serologically positive.17 In 1985, at age thirty-eight, Stephen tested positive for the human immunodeficiency virus.

He stoically faced his diagnosis and started zidovudine (AZT). His disease progressed slowly. He refrained from telling his mother, fearful of adding to the burden of guilt for the primary diagnosis she had carried throughout her life. During his visit to British Columbia, where she had moved in the seventies, she inadvertently discovered AZT among his pills. A day later, she had a stroke. Stephen, of course, thought he caused it.8

During the latter part of the eighties, he involved himself in the politics of blood contamination. Working with a group of fellow hemophiliacs, he did archival work that supported the Archival Study prepared for the Canadian Hemophilia Society. Their goal was government financial compensation for those afflicted by contaminated blood. He advised on a television documentary on the same issue. The compensation that he eventually received made the last four years of his life eminently more bearable. He was able to afford a decent apartment and a small car.17, 18

In July 1993, he was found to have a level 4 malignant melanoma. He had ignored a leg lesion for two years. In December he was admitted to palliative care and died four days short of Christmas on December 21, 1993.

His story is a reminder that science advances in small increments. Like the coagulation cascade, it advances to a platform from which the next leap occurs. The stunning advances in the understanding of coagulation are stitched into the tapestry of modern medicine.

A popular literature exists on the impact of illness on individuals. Stephen was no exception. His anticipation of a shortened life expectancy affected his goals. On the other hand, he had status as the Christmas of Christmas Disease. His energetic advocacy work on behalf of those made ill by contaminated blood was a calling. The modest heroism in his bearing a lifelong chronic illness is coupled with moral leadership. Working with others, he documented the need and challenged the government to find compensation for him and his fellow hemophiliacs.

 

References

  1. Biggs R, Douglas AS, MacFarlane RG, Dacie JV, Pitney WR, Merskey C, O’Brien JR. Christmas Disease: a condition previously mistaken for hemophilia. Brit Med Journal. 1952; 2:1378-82.
  2. Pavlovsky A. Contribution to the pathogenesis of hemophilia. Blood. 1947; 2:185-191.
  3. Aggeler PM, White SG, Glendening MB, Page EW, Leake TB, Bates G. Plasma thromboplastin component (PTC) deficiency: a new disease resembling hemophilia. Proc Soc Exp Biol NY. 1952; 79:692-694.
  4. Schulman I, Smith CH. Hemorrhagic disease in an infant due to a deficiency of a previously undescribed clotting factor. Blood. 1952; 7:794-807.
  5. Collins DH. Letter to the editor. Brit Med Journal. 1953; 1:97.
  6. Kemp PR. Letter to the editor. Brit Med Journal 1953; 1:97.
  7. Biggs R, Douglas AS, MacFarlane RG. Christmas Disease. Brit Med Journal 1953; 1:221.
  8. Interview with Robin Christmas, October 16, 2000.
  9. Obituary of Rosemary Biggs. Brit Med Journal 2001; 323:871.
  10. Interview with Dr. Robert MacMillan, Nov 23, 1996.
  11. Merskey C. The laboratory diagnosis of hemophilia. J Clinical Pathology 1950; 3:301-320.
  12. Biggs R. Thirty years of haemophilia treatment in Oxford. Brit J Haemat 1976; 13:452-460.
  13. Ingram GIC. The history of hemophilia. J Clin Path. 1976; 29:469-479
  14. Pool JG, Shannon AD. Production of high potency concentrates of anti-hemophilic globulin in a closed-bag system. New Engl J Med. 1965; 273:1443-1447.
  15. Christmas, SR. Ward G. Writing at the U of T. B. Cooper, F. Dennis, R. Robertson editors. Undated. I am indebted to Carolyn Murray at the Laidlaw Library, University of Toronto for tracking this down.
  16. Giangrande PL. Historical Review. Six characters in search of an author: The history of the nomenclature of coagulation factors. Brit J Haemat. 2003; 121:703-712
  17. Picard, Andre. The Gift of Death. 1995 Harper Collins Publishers Limited
  18. Picard, Andre. The Toronto Globe and Mail news item: December 21,1993

 


 

PETER KOPPLIN, MD, is a semi-retired internist in Toronto and a member of the Toronto Medical Historical Club which has been meeting since 1924. In one of his earliest clinical experiences as a medical student he met Stephen Christmas. He is a graduate of the University of Toronto Faculty of Medicine.

 

Highlighted in Frontispiece Volume 12, Issue 2 – Spring 2020

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