Cystic fibrosis: “Hope for my relief”

Agathe and her mother Emmanuel

attributed to him: @ Top Music – Real

I’ve been following Agathe’s evolution for a few years now. You may remember, but I raised money for the “Agathe, un souffle une vie” association during the Haut-Koenigsbourg route (with a relatively honorable time for me). regularly in contact with the family, I recently learned that a person who becomes a teenager is not easy to live with every day according to the mother, Emmanuel, has now benefited from a new treatment from the US. Before going to the Hautepierre Hospital for a set of tests, Emmanuel and Agathe came to see me to tell me the latest developments.

You should know that Agathe hasRare mutation in cystic fibrosis. She is also the only one in France to have this form, which prevents her from participating in some clinical trials. In the United States, the Vortex laboratory since 1998 has specialized in research against this disease that inevitably leads to premature death, even if Life expectancy has increased steadily in recent years. In the 1960s, the child who was declared ill lived only 5 years. today, You can expect to live over 40 years.

So Vortex has developed a drug that can be applied to Agathe. But it was necessary to go through the European and French administration, which is not an easy task. After pressure from the federations in early 2022, The drug was finally approved, and it has been given to Agathe for the past three monthsThree tablets per day (two tablets in the morning, one in the evening, every 12 hours). “On a daily basis, it does not necessarily appear‘Agathe says.’On the other hand, there are two important tests: the breathing volume that has increased, and the sweat test. If the value is greater than 60, you have cystic fibrosis, and Agathe has moved from 124 to 20. This does not mean that she no longer has it, but that The state has stabilized, which is necessarily hopeful. Opens up future prospects. ”

We dare hope for the stabilization of the disease.”

The family is open to all practices, and the holidays will be, as is often the case Surfing in Normandy. An Australian study has already proven that Beneficial effects of exercise and iodine on the respiratory system.

If Agathe can take a family outing without worrying, she breathes quickly with minimal effort. This year, it has accumulated 59 days of absence from college for health reasons. “She has abdominal pain, and she dries up more quickly“But this condition can be enough to lead a fairly normal life,” Emmanuel notes.We didn’t give much hope, and this is clearly the good news for 2022! We dare hope that the disease will stabilize. ”

Treatment costs today 23,000 euros per monthFortunately with the support of Social Security. For other procedures, there is always a supportive association.

The only contraindication to treatment: no grapefruit! “Anyway, I never eat him, he never puts sugar in the canteen.

This won’t stop me from introducing myself again at the beginning of THK at the beginning of September in order to raise some donations for the association. Can you help me

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What is cystic fibrosis?

We will simply repeat the interpretations given by the reference association “Vaincre la Mucoviscidose”:

Cystic fibrosis is the most common genetic disease.
MUCOVISCIDOSIS = mucus + viscosity
Our body normally produces mucus. This secretion is produced by the cells lining the hollow organs – eg the bronchi, the gastrointestinal tract, pancreatic ducts, or the bile ducts of the liver.

It’s a change CFTR . protein (cystic fibrosis membrane regulator) discovered in 1989, it is responsible for ensuring the fluidity of this mucus, which is the source of the disease.

In this case, Mucus is abnormally thick and sticky, which increases its viscosity. This lack of fluid will cause ducts in the involved organs to become clogged and build up in the respiratory and digestive systems.

so The bronchi can become engorged and infected, causing coughing and phlegm. The ducts and alimentary canals (intestines, pancreas, liver) can also become clogged, causing disorders of the digestive system and liver.

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to know

More than 200 babies are born each year with cystic fibrosis

>6000 people affected in France

More than 85% of patients have pancreatic injury

> 2 million French people carry the responsible gene in good health and can pass it on to their children

#Cystic #fibrosis #Hope #relief

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