Agathe and her mother Emmanuelle
Recognition: @Top Music – SR
I’ve been following Agathe’s development for a number of years now. You may remember, but I had raised funds for the association “Agathe, un souffle une vie” during the Haut-Koenigsbourg trail (with a relatively honorable time for me). Regular contact with family I recently learned that what mother Emmanuelle says is not easy to live with every day as a teenager is now benefiting from a new treatment from the United States. Therefore, before going to the Hautepierre hospital for a series of tests, Emmanuelle and Agathe came to update me on the latest developments.
You should know that Agathe has ita rare cystic fibrosis mutation. She is also the only one in France with this form, which prevents her from participating in certain clinical trials. In the United States, since 1998, the Vortex laboratory has specialized in studying this disease, which inevitably leads to premature death, even if it does Life expectancy has increased steadily in recent years. In the 1960s, a child who declared the disease lived only 5 years. Today, You can expect to live past 40.
Vortex has therefore developed a drug that can be used on Agathe. But it was necessary to go through the European and French administration, which is not an easy task. After pressure from the associations in early 2022 The drug was eventually approved and administered to Agathe for the past three months, at the rate of three tablets per day (two in the morning, one in the evening, at 12-hour intervals). “On a daily basis, it doesn’t necessarily show up‘ says Agatha. “On the other hand, there are two meaningful tests: the tidal volume that has increased and the sweat test. If the value is greater than 60, you have cystic fibrosis and Agathe has gone from 124 to 20. Doesn’t mean she doesn’t have it anymore, but it does the situation has stabilized, and that is necessarily hopeful. It opens up future prospects.”
“We dare to hope that it stabilizes the disease.”
The family is open to all practices, and the holidays will be as they often are Surfing in Normandy. An Australian study had actually proven that beneficial effects of exercise and iodine on the respiratory system.
If Agathe can go for a family walk without worrying, the slightest effort will quickly run out of breath for her. This year she has accumulated 59 days absent from college for health reasons. “She has stomach pains, she also dehydrates faster“, notes Emmanuelle. But this condition can be enough to lead a more or less normal life. “We weren’t given too many hopes and that’s clearly the good news for 2022! We dare to hope that it will stabilize the disease.”
treatment costs today €23,000 per month, fortunately supported by social security. The other activities are always supported by the association.
The only contraindication to treatment: no grapefruit! “Anyway, I never eat it, he never puts sugar in the canteen.”
That won’t prevent me from presenting myself again at the beginning of September at the start of the THK to collect some donations for the association. Will you help me?
What is cystic fibrosis?
We simply repeat the explanations of the reference association “Vaincre la Mucoviscidose”:
“Cystic fibrosis is the most common hereditary disease.
MUCOVISCIDOSE = mucosa + viscosity
Each of us bodies normally produces mucus. This secretion is produced by the lining cells of hollow organs such as the bronchi, the digestive tract, the ducts of the pancreas or the bile ducts of the liver.
It is the change of CFTR protein (Cystic Fibrosis Transmembrane Regulator), discovered in 1989 and responsible for ensuring the fluidity of this mucus, which is the origin of the disease.
In this case, The mucus is unusually thick, sticky and this causes its viscosity to increase. This lack of fluid leads to blockage of the ducts in the affected organs and accumulation in the airways and digestive tract.
In order to The bronchi can become blocked and infected, causing coughing and sputum production. The digestive tract and ducts (intestines, pancreas, liver) can also become clogged, leading to digestive and liver disorders.“
> 200 children are born with cystic fibrosis each year
> 6000 affected in France
> 85% of patients have pancreatic involvement
> 2 million French people are healthy carriers of the responsible gene and can pass it on to their child
#Cystic #Fibrosis #Hope #Agathe