Sickle cell disease is an inherited blood disorder. The red blood cells of patients who suffer from this are not round, but have the shape of a sickle. “These red sickle cells occasionally hook into each other and then the blood no longer flows, so that oxygen cannot be transported,” pediatrician and hematologist Marjon Cnossen of Erasmus MC tells EditieNL.
Pain attacks
When that happens, the body warns with a lot of pain. “The pain comes in attacks and they are almost unbearable.” Factors such as fever, infection or cold can stimulate the cells to tangle. “This can lead to an attack of pain and even death.”
In addition, clogging of blood vessels is not good for tissues and organs. “For example, the heart and kidneys in people with sickle cell disease work less well and they have an increased risk of strokes. Most children die because the organs do not work properly.”
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Daya Raap’s daughter also did not survive the disease. She died four years ago. “The heel prick showed that Dinely had this and that my partner and I are carriers of the gene,” she tells EditieNL.
14 months
Dinely was 14 months old when she passed away. Her spleen has sucked up too much blood into her body, causing her to suffer from a lack of oxygen. “We knew you could die from sickle cell disease, but not that it would go so quickly. What happened to her was pure bad luck. The chance that that would happen was very small.”
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The death of her daughter left Daya with a sense of emptiness. “But it also strengthened my motherhood.” When she turned out to be pregnant with her son Javyen, the emptiness turned into a feeling of happiness. “But when he was born in 2018, he was also found to have sickle cell disease.”
a lot of worries
Daya and her partner were aware of the risk, but it was still a huge setback. “But I think Jayven is also proof of how a child with sickle cell disease can also live long.” However, the disease has a major impact on the life of the family. “We have to keep a very close eye on him. He must not get cold, not dry out and not get sick in any other way. By now I quickly notice if he is not well and he gets sick. I know Now how should I respond to that.”
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They also have to go to the hospital regularly for check-ups and his spleen has been removed as a precaution. “This makes him more susceptible to other infections. And he takes medication every day. Since he was over 14 months old – the age that Dinely has reached – I’ve calmed down a bit, but the worries remain every day.” She hopes that more attention will be paid to the disease. “A lot of people don’t know what it is.”
2000 patients in the Netherlands
In the Netherlands there are about 2000 people with sickle cell disease. Worldwide there are about 30 million. Without treatment, 75 percent of patients do not live past the age of five. “We can provide the treatments in the Netherlands,” says pediatrician and hematologist Marjon Cnossen. But because the disease is accompanied by severe pain attacks and damage to the organs, the life expectancy is between 45 and 60 years.
The disease is most common in people of color. “This is because it originated as a protective mechanism. There is a lot of malaria around the equator, where the disease is most prevalent. Once upon a time, an accidental change in the DNA was found to protect against malaria.”
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People who carried this mutation were better protected against malaria and lived longer. “As a result, they had more children who then also got this hereditary trait and their children again, et cetera.” There is a 25 percent chance of sickle cell disease when both parents are carriers.
More attention and money
According to Cnossen, it is extremely important that more money is made available for research into sickle cell disease. That is why the Sickle Cell Fund was established. “Research can make better treatment and ultimately cure possible. In the Netherlands it is a rare disease, but that such a worldwide common disease receives so little funding for research is really dramatic.”
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