Mitochondrial diseases are a broad group of rare genetic diseases that still present a puzzle to medicine.
Their onset may occur at all stages of life, from birth to adulthood, and have a very strong impact on the lives of those affected by them and their families. They are difficult to diagnose, and every case varies, even within the same family: teenagers who lose their sight from one day to the next; apparently healthy children who, after a fever, gradually deteriorate, until they can no longer walk, see, talk, or lose the capacity to eat independently; adults who, in the prime of life, show signs of a degenerative disease.
These diseases affect cell energy metabolism. Mitochondria are the cell organelles responsible for producing 90% of the energy our bodies need; when the mitochondria cannot produce enough energy for genetic reasons, the body gets severely and progressively more ill. The organs that are most frequently compromised are those that require more energy, like the brain and muscles.
Depending on the disease, however, symptoms may show up in other organs and apparatus, such as the heart, liver, blood, sight, and hearing. Although science is making gigantic steps, there are still no definitive treatments for mitochondrial diseases.
The project
Through this project, Mitocon contributes to the battle against loneliness that affects every person and every family that has to fight such difficult and severe diseases as mitochondrial diseases. The sense of emptiness in which one inevitably sinks receiving a diagnosis of this type can be mitigated. As can the journey that everyone must face in finding expert doctors who understand the complexity of these diseases and other people who have lived the same experience, who can understand and help.
The main goals of this project include:
- offering free psychological support, which can easily be accessed using virtual methods, to people affected by these serious diseases, their families, and caregivers;
- facing issues linked to managing the disease on a daily basis, in the presence of expert doctors and professionals;
- creating opportunities for virtual meeting and exchange with other patients and families and building relationships that may bring benefits over time;
- introducing the association to new families who have not yet encountered Mitocon but who could benefit from the network’s support;
- expanding the association's network, making it more visible to give a greater voice to the community of people and families affected by these diseases.
The beneficiaries
The “Rare Spaces” project is dedicated to all the people affected by mitochondrial diseases, families, and caregivers. In terms of numbers, altogether mitochondrial diseases affect 1 in 5,000 people.
So far, the webinars organised by Mitocon have involved from 10 to more than 100 people per meeting.
Project name: Mitocon Rare Spaces – Virtual squares for empowering those who are fighting a mitochondrial disease
Proposing organisation: Mitocon – Together for studying and treating mitochondrial diseases (nonprofit organisation)
Area of intervention: Health & Welfare