Living with HaemophiliaClive Richards

Haemophilia B – a rare bleeding disorder

Haemophilia a modern condition?

First written reference circa 100 AD male infants exempted from circumcision if three older brothers had died from bleeding

Children of second marriages circa 1100ADsuggesting an understanding that it might be an inherited problem

First modern description of haemophilia in 1793Consbruch of Germany

First successful blood transfusion treatment 1840By Samuel Lane an English Physician to treat post operative bleeding in a haemophiliac boy

Haemophilia a Royal Disease

Queen Victoria’s son Leopold born with haemophilia 1853

1904 Tsarevich Alexei was born and “treated” by Rasputin

And in 1946……

Haemophilia MY genetic story

Haemophilia Christmas disease

Until the 1950’s all referred to as Haemophilia but in 1952 factor IX deficiency was discovered and Named Christmas Disease after the first patient Stephen Christmas – now more commonly called Haemophilia B

Various hospitals and doctors failed to diagnose me because no history was known – eventually came under the care of Great Ormond Street and diagnosed around age 4 transferred to St Thomas’ at 16

Haemophilia the effects

Joint and Muscle bleeds

Severe if untreated

Can lead to arthritis and other complications

Haemophilia Christmas disease

The not so good

• Painful episodes• Felt “different”• Hospitalisation• Excluded from sports• Shy to discuss• Missed events• My daughter a carrier• Travel for treatment

The good

• Time off school!• Felt “special”• Hospitalisation!• Hell I was lazy anyway!• Liked the interest• Given extra treats• ……….• Home treatment

Haemophilia related problems

HIVA more likely cause of death for haemophiliacs who lived through the contamination period than trauma

Haemophiliacs don’t bleed any quicker than anyone else but left untreated they bleed for longer

AC

CID

EN

T A

ND

SU

RG

ER

YD

EN

TAL

TR

EA

TM

EN

T

Haemophilia treatments

Blood Transfusion

Topical application of Lead Lotion

1980’s heat treated viral free factors introduced

1997 recombinant factor IX introduced

2010 Trials of long acting factor IX underway

1970 Home treatment possible with factor IX

Plasma frozen concentrate from 1960’s

Until 20th century life expectancy just 13!Alexei probably had haemophilia B like me!

20%

80%

Treatement levels of HaemophiliaOut of 350,000 cases worldwide

Adequate CareInadequate or NO care

Haemophilia reflections

I WAS VERY LUCKY!• The NHS started two years after I was born!• My father took on extra work to pay for investigation• I got into the system early and in pioneering hospitals• My parents devoted time and money to my care• They also “fought the system” for me• My mother made right choices without guidance• I have led a near normal working & family life!

BUT READ RICHARD’S STORYhttp://www.tellingstories.nhs.uk/transcript.asp?id=46

Haemophilia Support

• Dedicated haemophilia centres in hospitals• Physiotherapy• Joint replacement• Home treatment• Haemophilia Society formed in 1950• Education