One of France’s leading campaigners for sickle cell disease awareness has accused governments around the world of a lack of motivation to find a cure.
While one treatment is finally emerging in the US, there are still doubts about its side effects, with more trials needed before it is made available.
Sickle cell disease is among the most common genetic diseases, affecting around five million people worldwide. A further 45 million carry the sickle gene trait, meaning they are not affected but may pass it on to their children.
Those with the disease have badly formed and inflexible red blood cells, which cannot move easily through blood vessels and can block them. It means organs do not receive sufficient oxygen, causing problems such as anaemia, strokes and painful fits known as pain crises.
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What is sickle cell disease?
Most sickle cell disease sufferers have yellow eyes because the red blood cells die quickly, leading to the release of an orange-yellow pigment called bilirubin.
It is debilitating mentally as well, explained Jenny Hippocrate, president of the Association pour l'information et la prévention de la drépanocytose (Apipd).
“They cannot plan ahead and most sickle cell disease sufferers never make long-term plans because they know they will die. It makes their families poor and there is a lot of social stigma around it, especially because of the yellow eyes.”
However, the pain remains the worst part: “They [the medics] ask my son how much his pain crises hurt on a scale of one to 10 and he answers one million,” said Mrs Hippocrate, whose third child, Taylor, 32, suffers from sickle cell disease.
“I was told on the telephone that he would not live to be five years old. One of my first fights was so that people were not told over the telephone about a diagnosis,” she said.
As a young child, her son “died” in her arms, but Mrs Hippocrate was able to revive him and save his life.
“He used to ask me for the right to die when he was only about five. I never told him ‘no’, but asked him to think about it more.”
Mrs Hippocrate, from Martinique, set everything aside, including her career as a psychologist, to raise awareness of the disease.
She has been recognised worldwide for her efforts and has received countless medals and honours, including the Chevalier de l’Ordre National du Mérite and the Chevalier de la Légion d’honneur in France.
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Who does sickle cell affect most?
Sickle cell disease disproportionately affects black people and is particularly common in Sub-Saharan Africa. There is a link between malaria and sickle cell disease, although it is not exactly clear what this link is.
“It is a forgotten, neglected, racialised and segregated disease,” said Mrs Hippocrate.
“This is one of the oldest known and most common blood diseases in the world and we still have not found a proper cure. There is a lack of political motivation to cure this disease because it is not profitable.”
Currently, there is a cure for sickle cell disease: bone marrow transfusion. However, the procedure is very costly, requires a donor who is a very close match (usually a sibling or family member) and carries a lot of risks, so is not feasible for most sufferers.
Treatment does exist which alleviates pain and increases life expectancy, but it is far from a cure, nor does it totally eliminate the pain.
A new type of treatment has emerged which involves a gene-editing tool known as Crispr – its inventors won the Nobel prize in 2020.
With gene editing, the stem cells that produce the badly formed red blood cells are removed, genetically modified and then reintroduced into the patient. These engineered cells will then produce normal blood cells.
Trials so far have been positive, massively reducing pain for the vast majority of patients. Tests are continuing in the UK, France, the US, Germany and Italy.
Casgevy, the name of the medicine which enables this gene editing, is likely to be very expensive, at over €1million per treatment.
“I am very hopeful for this treatment and it may really be the cure. However, we are cutting up DNA and who knows what that might do in the long term. We need some perspective before getting too excited,” said Mrs Hippocrate.
“If a patient wants to do it, I would encourage them, but I would never recommend it myself. My son does not want to do it.”
She added: “I will never stop fighting against sickle cell disease. I have set off on a ship, I have gathered many strong and skillful sailors and I will only stop once I arrive on the island of a cure being available to everyone, I will fight for that until my last breath.”
