Alessandra Camerini
May 24, 2020 · 5 min read

Ex Novo – Science behind the scenes

“Ex Novo – Science behind the scenes” is a series of articles born within ISA’s blog in collaboration with the Collegio Nuovo – Fondazione Sandra e Enea Mattei in Pavia, whose students community is marked by a strong presence of women in science. Science is research, long hours to carry out experiments in the laboratory or in the field, but science is also communication, grant writing, entrepreneurship, administration, teaching, project management, leadership and many other facets. We will post articles, interviews and short stories on these multiple aspects of the scientific endeavour. Should you like to contribute with your experience, do not hesitate to get in touch with Michela, ISA’s Head and Collegio Nuovo Alumna, here:

From the observation of the “half empty or half full glass”, to the need to fill that glass

My youngest son arrived with the first spring rays of March, 4 years ago.

He has sparkling eyes, very soft cheeks that can be counted among the World Heritage Sites. He has a 6-year-old brother with whom he plays, he kisses and beats him, without any interruption.

When he was 3 months old, he showed the first symptoms of the disease; after 2 months, we arrived at the diagnosis: a very rare disease, less than 1 patient out of a million people.

Before that date, I had sporadically used the term “rare” and I certainly never focused on whether it had a positive or negative meaning. Since that date, however, “rare” has become a term in common use for us. Surely now its meaning is clear to me.

“Rare” means having won a lottery, but on the contrary.

“Rare” means my son’s eyes that shine, his red cheeks and his desire to fight.

“Rare” means a different and special life, a sudden turn, a new journey.

My husband and I started our run right away as soon as we understood. It took time to understand and accept.

Alessandra´s family with their heads and their hearths.

Along the way, we understood that running alone was a real waste of energy, that with others, we could fall, but with the others, we could get up stronger.

I found the Association for my child’s illness and I started collaborating with them. It was a small association, niche, without staff, without headquarters, without dedicated staff, without operating costs. However, we managed to bring in projects that are radically changing the lives of our children.

Finally, I quit my job as an executive in an international investment bank and I decided to work and use my skills in the Telethon Foundation, where I am the Head of relations with patient associations. I put my experience as a professional and as caregiver on the table, as a mother of a child with a rare disease, within a diagnostic and care path and within a small association of patients. “With the head and the heart”, as the General Director of Telethon, Francesca Pasinelli always says.

Why did I tell you my story?

My story is not different; it is no longer special, more representative, more painful, and stranger, than the hundreds of thousands of other stories of families who, affected by a rare disease, decide to engage in a patient association.

Stories of families who decide to invest the remaining energies from the management of the family, of work, of “life”, and unfortunately also of illness (whether of themselves or their family), of bureaucracy, of everyday life made of struggles, of pain, of tears, in a common goal, for the benefit of the community.

When the diagnosis of a genetic disease arrives to the daily life of a family, the reactions vary, and the times of maturation and acceptance of the diagnosis are the most different. Some patients and caregivers believe that their life is over.

However, this is not the case: everything can be tackled, and so patients associations and their families become fundamental.

It is not so obvious to make choices of this type, to have the strength and courage to move from the dynamics of the “I” to the dynamics of the “us”; it means moving from the observation of the “half empty or half full glass”, to the need to fill in that glass.

This is what is important, always, to remember, when thinking about an association of patients. Having respect for their time and energy.

They made a choice of life and engagement, because commitment is the only way to regain life.

For us, rare parents, it is natural to ask ourselves, in the future, when our children grow up, who will take care of them. Thinking about the future is excruciating for all parents of sick children, and you cannot bask in pain.

For this there are patient associations, there is the Telethon Foundation that tries to respond to the needs of the sick, foster research and support in all ways who can do it.

I do not know if research will ever find a cure for my baby’s disease. I do not know if we will ever find a cure for all patients with rare diseases. Nevertheless, as Susanna Agnelli said: “We will continue to exist and fight until the word end to rare diseases is put.”

So we continue to support research and fight, as engaged patients.

From a “disease centred model” to a “person centred model”

The term “patient engagement” refers “to the process of building the capacity of patients, families, carers, as well as health care providers, to facilitate and support the active involvement of patients in their own care, in order to enhance safety, quality and people-centredness of health care service delivery.” (definition by the World Health Organisation).

Telethon researchers and members of patient associations.

The initiatives that aim to involve patients in care-oriented research are increasing more and more, and range from patient training, to their participation in the design of studies or in the evaluation of drugs. It is fortunately common opinion today that effective involvement of the patients is necessary to improve diagnostic-assistance paths, and therapies, and make all stages of the process more efficient: design, development, dialogue with health institutions, pharmacovigilance, …

Patient engagement was born as a push from the patients themselves who, through individual disease associations or organizations that dealt with advocacy for larger communities, have promoted the move from a “disease-centred model” to a “person-centred model”.

However, the transition from the traditionally paternalistic approach focused on providers, to an effective involvement of patients and the concrete integration of their preferences in the planning and execution of health services and the biomedicine agenda, is not so obvious, nor immediate, far from complete and slow: there is still no structured and transparent system to incorporate patient preferences into decision-making processes. The hope is that collaboration between all stakeholders will increase to provide coherence between all the contributions.

An indispensable prerequisite for empowering patients to make an effective contribution to the various processes is the principle of health literacy: the ability to acquire, understand and use information for their own health; to promote greater autonomy and proactivity in the management of their health and care in the context of the health system; to increase their ability to understand the research and development processes of drugs, and therefore the possibility of contributing to them.

Talking about “patient engagment” is much simpler than implementing it, especially when you go to areas where historically “non-experts” are excluded, such as the peer-review processes of scientific articles. Nevertheless, something moves on: in 2014, for example, the British Medical Journal changed its editorial line by introducing a close partnership with patients, as an ethical imperative, essential for improving the quality, safety, value and sustainability of the health system.

Personally, I believe that one of the most concrete and impactful manifestations of “patient engagement” is the practice of funding research by patient associations.

Taking responsibility for funding biomedical research requires the internalization of what are the dynamics of biomedical research – a high-risk enterprise that does not allow for shortcuts – and above all, the adoption and application of principles and good governance, and selection practices. For example, the ability to report with maximum transparency every step of the decision-making process that will lead to the funding of projects.   Essential are robust research selection and evaluation practices through a peer review process, in which there are experts capable of assessing the scientific quality of the projects, as well as technicians who guarantee the transparency of the process and the outcome. Fundamental is that the patient association maintains full ownership and awareness of the process from start to finish.

The decision to involve people “not involved in the job”, but directly involved in the disease, in the selection process is the culmination of patient engagement.: The scientists bring their fundamental competence and expertise, and the patients contribute with the unique value of their own experience, which is not codified in any manual, but is indispensable for assessing whether a project, still excellent on a scientific level, has the potential to effectively respond to the needs of the patient-funder.

At Telethon Foundation.

What should I recommend to a researcher? To remember, from behind the bench, that everything that is done must have the patient at the center, with a concrete grounding. Rare-disease oriented research cannot be an end in itself, but must aim to reach the patient. I work at the Telethon Foundation and, in order to never forget this aspect, we hung the photographs of the children with a rare disease on the walls of our offices: it is to allow their eyes to look far away, that we must act every day.

From the patient’s point of view, it is certain that they will continue to pursue the path of patient engagement, joining increasingly cohesive and effective groups, studying, learning, collaborating with the research and medical community, with institutions and industries and contributing, as far as they can, to change what is possible in the medical and health fields.


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