The doctors of the Bambino Gesù hospital in Rome have found a possible therapy to cure the 17-year-old Carola suffering from a severe genetic alteration. The mother is happy with this new treatment available, even if she does not know if it will actually improve the girl’s quality of life. But it sure is a first step.
Carola is a 17 year old girl who lives with her family in Fiumicino. Unfortunately you are suffering from a very rare disease, the Lafora’s diseasea genetic alteration that causes the brain to build up sugar.
For years mom Simona and dad Lorenzo they struggle to find a therapy that can help her. And today they can finally start a treatment for her, thanks to the Bambino Gesù pediatric hospital in Rome.
Last Friday, in fact, the doctors started with the first administration of Myozyme, an enzymatic therapy, to which the young woman was subjected. As Carola’s mother remembers:
This experiment is the first in the world. We do not know if it will work but for the first time someone has moved to try to find immediate solutions.
A cure for 17-year-old Carola suffering from a serious genetic alteration
Today the life expectancy for those suffering from this rare disease is a few years from the manifestation of the first ailments. A possible cure could help Carola and the patients who suffer from it:
We had an angel, the head of the Pharmaceuticals area of the Lazio Region, who understood the situation. Today the Region is purchasing this drug, which is administered to Carola intravenously with the same dosages and methods that are used for the other disease. And there is a lot of anticipation. For our part, of course, that we dream of a sign of improvement in our daughter, but also of the rest of the world that is interested in this pathology and needs to have scientific evidence that demonstrates whether the drug is able to overcome the blood brain barrier as it is hypothesized. .
We hope that the results after the first few infusions give Carola and her family good news.
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