Just a few months ago Jennifer Cornthwaite was unaware of her very rare blood condition and could have lost her life if the blood transfusion unit had not managed to find a donor from the Netherlands and another from the UK.
I’m now like a ticking timer and could need blood any moment
The 32-year-old developed severe postpartum haemorrhage after having her third child, when it transpired she had developed a rare blood type found only in 0.04 per cent of the world’s population.
And like Ms Cornthwaite, there are millions suffering in silence from a rare condition, with very little, if any, access to information and treatment.
The world today marks Rare Disease Day, established in 2008 by the European Organisation for Rare Diseases, to improve access to treatment and research.
In Europe a disease is defined as rare when it affects fewer than one in 2,000, while in the US, it is rare when it affects fewer than 200,000 at any given time. In total there are more than 6,000 rare diseases affecting more than 60 million people in Europe and the US.
Rare conditions include muscular dystrophy, thalassaemia, Huntington’s disease and haemophilia.
Joining other associations marking this day, president of the Malta Blood Donors Association Philip Chircop called on the public to donate blood regularly to avoid unnecessary periodic emergency calls.
He also appealed for specialised freezers that could increase the shelf-life of donated blood and preserve it for five to 10 years. This would not only address the operation waiting-list but help people like Ms Cornthwaite, who is a “living time bomb”.
In September, some three weeks after giving birth to Isabelle, Ms Cornthwaite developed a severe postpartum haemorrhage and was hospitalised for almost a month.
During this time she underwent tests in a desperate attempt to search, locally and overseas, for a donor in case she needed an urgent blood transfusion.
Fortunately, the national blood transfusion centre finally managed to track a donor from the Netherlands and another from the UK.
But Ms Cornthwaite noted that the provision of blood from overseas could take at least 24 hours – and in emergencies this could mean the loss of life.
“Until a few months ago my blood seemed fine and I never had any problem with finding Maltese blood donors. I’m now like a ticking timer, and could need blood any moment. This could happen to anyone...”
“Rare diseases affect a small number of people but collectively there are millions. Today’s awareness campaign is a bid to support and show solidarity with these people who often feel isolated,” Mr Chircop, who is also the vice president of the Malta Health Network, said.
“The more permanent solution of specialised freezers to preserve blood could also address patients suffering from rare blood conditions like haemophilia and thalassaemia.”
He added that the donors association was working on setting up a national alliance for rare diseases that would encompass sufferers, their carers, relatives, pharmaceutical and medical entities.