2023-06-19 10:02:02
If you ask them, most people will tell you they’ve never heard of it. At best, it will vaguely mean something to them. However, sickle cell disease is currently the most common genetic disease in the world, “it concerns approximately 300,000 births per year in the world,” reports Inserm. Also called sickle cell anemia, “sickle cell anemia is an inherited genetic disease affecting red blood cells, characterized by an abnormality in hemoglobin, which carries oxygen from the lungs to the tissues, continues the scientific research organization. A disease that causes deformations of red blood cells that become fragile and rigid, promoting anemia, painful vaso-occlusive crises and an increased risk of infections.
Since last November, the High Authority for Health has recommended the generalization of screening for sickle cell disease at birth. But “when my daughter was diagnosed twenty-eight years ago, most doctors did not know about the disease”, recalls Ada Pagniez, president of SOS Globe 64, a federation of twenty patient associations spread over the national territory, and mother of Mouna, sickle cell patient.
How was the diagnosis made at the time for your daughter? Was the disease known?
It took time. As a baby, she had signs of pain in her arms and legs. We went to the hospital in Pau several times, but the clinical check-ups she had were not thorough enough to make the diagnosis. Each time, we came home with instructions to be careful and a prescription for doliprane.
The disease intensified when my daughter was 7-8 months old. At that time, I accidentally crossed paths with a young medical intern from Africa. Two-thirds of sickle cell sufferers in the world live in Africa, where there is therefore better knowledge of the disease. When this young intern saw my daughter’s swollen fingers, he told me about this disease and advised me to get tested. So we took Mouna for a hemoglobin electrophoresis, which is the diagnostic test. A few days later, the pediatrician called us, he was very kind but seemed a little worried, he knew very little about the disease. For us, everything fell apart.
What treatments has your daughter received?
Quickly, my daughter had severe attacks and hospitalizations. At the time, the teams supported us as best they could, emphasizing pain management. Then we were directed to the Necker children’s hospital in Paris, for an annual consultation and specialized support. Mouna was prescribed painkillers for the pain, iron for the anemia and antibiotics which she took daily until she was 15, because this disease weakens the immune system and makes you more vulnerable to risk infectious. And she often received blood transfusions for her severe anemia.
What does everyday life look like when living with sickle cell disease?
There is no cure for sickle cell disease, you have to live with it. The only curative treatment is bone marrow transplantation, but it is not indicated for all sickle cell patients, and at the time, we were never told about it.
When Mouna was a child, we lived in the hospital, we went there at least once a month, which is very hard at that age, to follow a normal schooling, to live our life as a child, to make friends. For her, it was not possible, she was often absent, made fun of by some classmates, and not really understood by the teachers, who did not understand the impact of her illness, which is an invisible handicap. Until high school, she was stigmatized.
The physical impact of the disease is coupled with an isolation that leads many patients to depression.
Over the years, has the management of the disease evolved? Has she improved?
Even today, there is a lack of knowledge about the disease. You should know that in the event of an acute crisis, sickle cell disease causes very violent pain, as if you were crushing your bones. This requires appropriate care, but in emergencies, not all caregivers are used to this pathology, and pain management may not be effective enough. However, the pain is so intense that it requires the administration of powerful analgesics, even morphine. But it has happened that my daughter has called me crying in pain from the emergency room because caregivers considered that she had received sufficient treatment, and looked at her almost like a drug addict who demanded her dose. It’s amazing!
In 2023 again, you have to arm yourself when you have this disease, be emotionally shielded, because you have to hang on.
What measures do you think could improve the management of sickle cell disease?
To date, there are dedicated services for the management of diabetes and a range of illnesses, but nothing for sickle cell patients, who are overlooked in medical care.
When my daughter goes to the emergency room because she has a painful crisis, it often happens that she is admitted to the infectious diseases unit, as if she had a tropical disease, and when, because of her weakened immune system, it Don’t let her get an infection.
What is needed is to deploy a care plan for sickle cell patients, with a dedicated protocol, for more effective and rapid pain management in the event of a crisis. It is a disease of pain that requires a marked course of care, with better informed caregivers.
Living with sickle cell disease is a daily struggle, for care, to attend school, to have a professional activity or to benefit from the MDPHdisability support: everything remains very complicated today.
Fortunately there are patient associations, thanks to them I was able to get my head above water before joining them in the fight. The associative network makes it possible to bring visibility to this disease and to the patients. As well as great support for families, to answer their questions, their fears, and accompany them on a daily basis. Do not hesitate to approach it!
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