Medicine comes home, treatments for rare diseases. “This is how we come back to life” – breaking latest news

Pamela today is a serene person. In the 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 in some moments I didn’t have. I was able to have a life made up of many normal things as a gift. Going out with friends, school ». But there were stages of pain and many trials to overcome for Pamela Pieralli, 35, from the age of 4 suffering from Pompe disease. It is a lysosomal storage disease, a heterogeneous family of over 50 rare diseases that depend on the lack of an enzyme. In Pompe disease, glycogen accumulates in cells and in small intracellular organelles, the 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, the therapy, which has not been found for most of the approximately 8,000 rare diseases known today, exists in this case. Not only. For some months it has also been administered at home, with great advantage for the patient in terms of quality of life “and serenity”, adds Pamela. He told his story in a book, «The weight of a crumb», Mauro Pagliai publisher. «When I started to feel bad, I often fell, it was enough for me a nothing to feel fatigue. A crumb for me, in terms of heaviness, is equivalent to a boulder 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 deals with data entry. Up to the age of 12, between one hospitalization and another, he tasted 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 automatic respirator, in the wheelchair. Fortunately.

In 2003 he began the intravenous therapy, infusions of the missing enzyme: «Every 15 days I went to the Meyer hospital, the actual treatment lasted 4 hours but I was exhausted with my family. We were losing all day. Dad is a baker, he works at night and during the day, when he could have rested, he had to accompany me to the center because my mother could not make it by herself ». During the pandemic, the turning point. On March 30, 2020, the Aifa drug agency approved the request, supported by various rare disease associations, to extend the possibility of using home therapies even in the case of pathologies for which it was not foreseen, including Pumps.

The company

An opportunity offered by several pharmaceutical companies including Sanofi with his home therapy service, active for ten years and already tested for patients with other lysosomal storage diseases (Gaucher, Anderson-Fabry and type 1 mucopolysaccharidosis). The service is activated at the request of the doctor caring for patients already under treatment deemed suitable for this mode of administration; the costs are entirely borne by the company.

So Pamela has regained a part of normality: «I went through a difficult adolescence, now as an adult I try to take back the beauty that is there. Unfortunately, I don’t have a boyfriend. I missed this a lot and I went into crisis. I’m fine now. In my days there is also joy ». In the distance, Linda, the daughter of her cousin, 11 months old, is crying. Pamela changes her voice: «You hear her when she screams. For me it is life ». The home therapy services offered by companies have not arrived everywhere in Italy.

The association

Some Regions are in favor, Tuscany in fact, in others it is also active for rare diseases.Integrated Home Assistance (Adi) fully borne by the National Health Service, which however suffers from the typical problems of our health, including regional disparities. “An inequality is being created between patients already disadvantaged by their condition and it must not happen. We are working hard to ensure that iThe right to care at home is ensured for all who need it ”, concludes Angela Tritto, from 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 with children affected by this disease. A reality rooted throughout the national territory, which offers support to families, promotes scientific research and raises public awareness.