A disease is defined as “rare” when its incidence, understood as the number of cases present in a given population, does not exceed a certain number of subjects according to established parameters.
In the EU the threshold is set at 0.05% of the population, i.e. no more than 1 case per 2000 people.
In Italy it is estimated that over 1 million people suffer from a rare disease.
STXBP1 is a rare disease, which however is not recognized as such, since the list has not been updated by the ministry for years.
1085 patients are registered worldwide and 43% are in Europe, 32% in North America, 16% in Asia Pacific and 9% in the rest of the world.
The gender breakdown is equally distributed, between 50% women and 50% men.
Fewer than 1000 people suffer from this disease in the world and the sufferers in Italy are just over 50 out of a population of around 60 million.
STXBP1 is an extremely serious pathology that causes serious psychomotor delays resulting in a non-total self-sufficiency of the affected individual, as in the case of Samuele, a 10-year-old child who was diagnosed with this pathology at the age of fourth.
Samuele’s condition is very serious and it happens that there are periods in which he suffers from continuous epileptic seizures which in the most serious cases make even the administration of food difficult.
Samuele spends most of his time in the living room in a space created especially for him in order to prevent him from getting strokes, given that his illness causes involuntary movements of his body and in particular his head.
If diagnosing a rare disease requires time, patience and, often, a long and tiring process; even taking charge is not always easy and specific drugs for rare diseases, which are few and are not always usable and in most cases are very expensive.
To obtain the appropriate drugs, a rare disease must not only be correctly diagnosed but also recognized by the National Health System.
A person affected by such disabling pathologies is often not self-sufficient and must rely on his family and this determines a substantial change in the management of his own life and that of the family unit.
When I learned about this disease and started this project by delving into the topic, I made contact with some families of the STXBP1 Italia APS association and this allowed me to personally follow some cases, as a guest of said families.
One of the situations that I considered most particular is that of Giulia, a 3-year-old girl suffering from STXBP1, unlike her twin, whose father also suffers from a rare disease that compromises his vision.
In a delicate and complex situation like this, being able to plan the week in advance is essential because any unexpected event could alter and undermine the fragile family balance.
When the news of the diagnosis of the rare disease is communicated to parents, it is important to consider the psychological factor because the reactions are different from subject to subject.
The load of tension and suffering can sometimes be the driving force for greater closeness and mutual support but in other cases cause conflicts and fractures, such as for example between Samantha and Michele.
The condition of their 19-year-old daughter Nicole was experienced differently by her parents and over time this was one of the main reasons for the breakdown of their relationship.
It is common within families that a parent has to look for a job that can allow them to stay at home as much as possible in order to care for the person suffering from the disease.
The healthcare system is unable to guarantee enough hours of support to meet the needs of families who are therefore forced to turn to private professionals.
Observing the subtle balances of the families I photographed for weeks I realized that disability is not the result of the disease but is the product of a society unprepared to welcome it.
It is very important to show that we must not be afraid of disabilities, because only knowledge can break down some barriers since being inclusive represents the real challenge of society.
The objective of this project is also to raise awareness of the fact that there are some rare diseases which are very disabling but which the national health system does not recognize as such, with the hope that action can be taken to guarantee the necessary support and help towards families that have children affected by illnesses like this.
