“Come in, taste and infuse”, in the evenings, for 12 hours, 5 days a week. This is the daily life of Louisa, suffering from a blood disease, thalassemia, which affects 300,000 people around the world. Gene therapy product announced …
By Maureen Cofflard
“Life is a daily struggle“. Louisa Maulu-Tronci, 50, was one of the Covid patients evacuated by a military ship in March 2020 from Ajaccio to Marseille but it is especially thalassemia, a genetic blood disease, which exhausts her, since childhood. This genetic disease, sometimes also called beta-thalassemia, affects nearly 300,000 people worldwide, especially around the Mediterranean and in South-East Asia. Rare in its severe form among Europeans, it is less known in the West than cystic fibrosis, for example, it prevents the proper manufacture of hemoglobin, which carries oxygen throughout the body, and causes anemia, potentially fatal in its most severe form.
Transfusion dependent
In France, 713 people suffered from it in 2020, half dependent on regular and lifelong transfusions, according to the 40e Congress of the French Society of Hematology. These transfusions cause iron overloads that affect organs and are the cause of 36% of early deaths in patients over 12 years old, according to the same source. For Louisa Maulu-Tronci, one of 15 Corsican patients, married and mother of a 23-year-old son, the diagnosis fell when she was less than two years old. “They detected thalassemia in my sister who was six months old at the time. We were diagnosed with thalassemia major. I was 18 months old and started my first transfusions“, explains to AFP this administrative director of a family construction company in the Ajaccian region. On a daily basis,”it’s a lot of organization, especially when I was in school because I was transfused once a month and infused in the evenings, for 12 hours, five days a week“. “It was hard when I was seven or eight to see the girlfriends, in the summer, to go to the beach after school and me it was to come home, taste and infuse“, she recalls.
Complications of Covid
Today under dual therapy (pill and infusion), she is struggling to recover from Covid-19. “Last year, I was arrested for nine months because of the Covid, I was hospitalized and transferred to Marseille on board the Tonnerre“, a military helicopter carrier.”On my return, after 10 days in Marseille, my ferritin level -a protein ensuring the storage of iron- was very high, so we started the pills and infusions again“, she says.”I’m still struggling a year later (the Covid), psychologically“, she slips in a tired voice. For her, the Covid”added a complication in terms of hospitalizations“with in particular the prohibition of accompanying persons during the numerous transfusions. Since January 2020, a gene therapy product targeting beta-thalassemia, the Zynteglo, which should make it possible to do without blood transfusions, has been recognized by the Haute Autorité de santé as innovative so that patients can benefit from it quickly, thanks to accelerated procedures.
Arm yourself with patience and put things into perspective
But Louisa remains cautious: “We have heard about the experiences and treatments they have been trying since I was 10-15 years old but unfortunately, 40 years later, we are still at the same stage of transfusion for me, now every 21 days since the Covid“. For her, “the hardest part in everyday life is managing fatigue and pain“, with”full nights that are rare“, of the'”shortness of breath, bone pain“. “I tell myself with hindsight that life is a daily struggle, you have to arm yourself with patience, always keep hope and go through difficult trials with courage and the support of those close to you.“, she relativizes.”There are moments of discouragement, you want to send everything for a walk, the impression of only swimming in the medical environment, it’s heavy but you have to put it into perspective, we are lucky in France to be able to be treated without ask a question, without asking if there will be blood or the right tubing as can be the case in Morocco where life expectancy is much less important. It must be said that there is worse!“
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