During the pandemic, Aifa authorized home care. Pamela’s story: “For me and my loved ones, it was a nightmare every time. Now I have the time and the confidence ”. The Sanofi Genzyme plan with tutors and support
Pamela is a calm person today. In profile on WhatsApp smiles from the wheelchair, “Escorted” by two rather proud bodyguards. They are the younger brothers: “They and my parents gave me the energy that I did not have at times. I was able to have a life of a lot of normal things as a gift. Outings with friends, school ”. But there were painful stages and many hardships to overcome for Pamela Pieralli, 35, from the age of 4, who suffered from Pompe disease. It is a lysosomal overload disease, a heterogeneous family of more than 50 rare diseases that depend on the absence of an enzyme. In Pompe disease, glycogen accumulates in cells and in small intracellular organelles, lysosomes, and the substance that should eliminate it does not come into play. The consequence is the compromise of various vital organs and systems. .
A big plus
Fortunately, therapy, which has not been found for most of the 8,000 or so rare diseases known today, exists for this. Not only. In recent months, it has also been administered at home, with great benefit for the patient in terms of quality of life “and peace of mind”, adds Pamela. He told his story in a book, “The weight of a crumb”, editor Mauro Pagliai. “When I started to feel bad, I often fell, that was enough for me nothing to feel fatigue. A crumb for me, in terms of heaviness, is equivalent to a rock for healthy people ”. Pamela lives with her family in Incisa Valdarno (Fi). Graduated in psychology, she works in a psychotherapy project of the Municipality, she takes care of data entry. Until the age of 12, between one hospitalization and another, he tastes autonomy. Then an infection more serious than the others he threw her into intensive care, where she remained for 5 months, intubated. She came out with the tracheostomy and the dependence on the ventilator, in the wheelchair. Fortunately.
In 2003 he started the Intravenous therapy, infusions of the missing enzyme: “Every two weeks I went to Meyer hospital, the treatment itself lasted 4 hours but I was exhausted with my family. We were wasting the whole day. Dad is a baker, he works night and day, when he could have rested, he had to accompany me to the center because my mother could not do it alone ”. During the pandemic, the turning point. On March 30, 2020, the drug agency Aifa approved the request, supported by various rare disease associations, to extend the possibility of using home therapies even in the event of pathologies for which it was not intended, especially Pumps.
An opportunity offered by several pharmaceutical companies including Sanofi with its home therapy service, active for ten years and already tested in patients with other lysosomal overload diseases (Gaucher, Anderson-Fabry and type 1 mucopolysaccharidosis). The service is activated at the request of the doctor the management of patients already under treatment deemed suitable for this mode of administration; the costs are entirely the responsibility of the company.
Pamela has therefore rediscovered a part of normalcy: “I went through a difficult adolescence, now an adult I try to take back the beauty that is there. Unfortunately, I don’t have a boyfriend. I missed it a lot and went into crisis. I am fine now. In my days there is also joy ”. In the distance, Linda, her cousin’s 11-month-old daughter, is crying. Pamela changes her voice: “You hear her when she screams. For me it’s life ”. Home therapy services offered by companies have not arrived everywhere in Italy.
Some regions are in favor, Tuscany in fact, in others it is also active for rare diseases.Integrated Home Help (Adi) fully supported by the National Health Service, which nevertheless suffers from typical problems of our health, including regional disparities. “An inequality is created between patients already disadvantaged by their condition and this must not happen. We are working hard to make sure IThe right to home care is guaranteed for all who need it, ”concludes Angela Tritto of Trezzano sul Naviglio, a 41-year-old son who suffers from hepatic glycogenosis. Tritto is the stubborn president of Aig, the glycogenosis association, founded in 1996 by a group of parents of children affected by this disease. A reality anchored throughout the national territory, which offers support to families, promotes scientific research and raises public awareness.
November 25, 2021 (modified November 26, 2021 | 11:28)
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