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Caring for the carer: a still underestimated medical responsibility
'Where others can walk, I must run'
"I have always had an observatory on what happens in families where a child is born with a rare disease" says Dr Faravelli. "And the stories that struck me the most were stories of mothers. Women who adapted their lives this event and turned it into a strength rather than a weakness'.
The numbers give weight to these stories. According to data collected by the UNIAMO Federation and EURORDIS, 60% of caregivers of people with rare diseases spend more than two hours a day on activities directly or indirectly related to the illness. 30% reach six hours daily. 42% had to interrupt or reduce their professional activity, with a reduction in economic income affecting 69% of families. Two thirds of caregivers report serious difficulties in managing their situation both practically and financially.
"I remember when I worked in England, a mother described herself as the project manager of her son's illness," Faravelli says. "She spent her time coordinating hospital care, community care and appointments. That image stayed with me because it perfectly captures the organizational burden these women face, on top of the emotional one”. One mother, in a qualitative survey, summarised her condition with these words: "I am not just another mom. Where others can walk, I have to run.
An impact that has a gender
That caregiving has a predominantly female face is nothing new. But in the world of rare diseases, this asymmetry becomes even more pronounced. The Women in Rare report by the UNIAMO Federation highlights a systematic discrepancy: women experience higher levels of stress and depressive symptoms in women than in men, greater impairment of quality of life, greater impact on their professional lives, and more hours per week devoted to care.
Women affected by a rare disease also face longer diagnosis times compared to men: an average of 5.4 years versus 3.7. And there is another, often overlooked aspect: women who are healthy carriers of genetic conditions linked to the X chromosome. “Over time, we are discovering that, in some cases, although they do not have the full-blown disease, they do experience health problems that have long been underestimated", Faravelli explains. "But there is also a significant psychological burden: the experience of having transmitted the condition. In some cultures, this generates a real stigma, leading to marginalization within communities. Here, it can at the very least generate profound feelings of guilt.
The scale of the issue is such that, in 2021, the United Nations adopted a specific resolution on rare diseases, acknowledging that "women and girls perform a disproportionate share of unpaid care and domestic work when a member of their household has a rare disease".
When the healer stops healing
The consequences extend to the social sphere, the ability to interact with others, and even health,” Faravelli explains. "If a mother does not take the time for a screening mammogram, she risks a late diagnosis of breast cancer. It is a vicious circle: those who care for others often end up neglecting themselves”. Depression, stomach ulcers, chronic stress-related illnesses are all too common.
But caregiving, the geneticist emphasises, is not only destructive. "Everything is transformative, and not always in a negative sense", she observes. "I have seen caregivers develop remarkable qualities: skills, resilience. They nurture relationships, fewer, perhaps, but deeper and more meaningful ones”. However, she adds, “We must not forget that for some people, triggering this transformation can be very difficult, especially in social contexts where the economic impact is devastating.”
From his observatory at Gaslini, Faravelli witnesses daily what some call a “medical pilgrimage”: families moving from regions hundreds of kilometres away, economic and emotional costs piling up. “You wouldn’t believe how many families I’ve met who moved to Genoa because of their child’s illness” she confides. And the impact spares no one: "There are also very interesting experiences on the consequences for healthy siblings, the so-called ‘siblings’, she adds. The impact on them is an issue that deserves much more attention”.
Why the doctor must take care of the caregiver
There is one aspect that is often overlooked: the caregiver's health directly impacts the doctor’s work. If a mother cannot take care of herself, if she suffers from depression, lacks employment, or is exhausted, this is detrimental to the care and treatment of the child. Therapies may not be administered correctly, recommended lifestyles may not be followed, and continuity of care can break down.
"The physician should be primarily concerned with the caregiver’s well-being", says Faravelli. "When we treat paediatric patients, we are dealing with the entire family system. Clearly, it is inescapable. It is our moral responsibility to consider the effects on mothers and other family members”.
Clinical genetics, by its very nature, has always embraced this broader perspective. "We work with families because we often need to predict the likelihood of the same condition recurring", she explains. "And for many years, when we had no treatments or therapies for our patients, everything was based on the communication process. It is a holistic approach, one that should be adopted across all areas of medicine”.
What a modern hospital can do for caregivers
Dr. Faravelli identifies several priority levels of intervention to ease the burden on caregivers. The first concerns diagnosis: reducing what is known as the 'diagnostic odyssey', the path that leads families to wander for years between different specialists. "We have a responsibility to put ourselves in a cultural and technological position to provide rapid and accurate diagnoses", she says. “There is nothing worse than giving a wrong diagnosis”. Furthermore, communicating the diagnosis should be a core competency for all physicians, supported by structured psychological assistance for families.
Another level, perhaps the most impactful on daily life, concerns caretaking. "If a hospital expects a family to see the ophthalmologist on Monday, the orthopaedist on Tuesday, the cardiologist on Wednesday, the geneticist on Thursday and the neurologist on Friday, and this happens every month, the family is exhausted". The solution lies in multidisciplinary care pathways: coordinated packages of visits where families come once every six months and meet all necessary specialists in a single session. The National Plan for Rare Diseases foresees just that: hospital platforms where consultations take place with the co-presence of specialists.
Added to this is telemedicine. "In fields like genetics, where a physical examination is not always necessary, being able to deliver test results remotely is revolutionary," Faravelli explains. "We are talking about a couple seeking advice on investigations for a new pregnancy, or receiving results from an exam performed six months earlier. For an institute like ours, which serves families from all over Italy, this means avoiding journeys of hundreds of kilometres".
A system that is not yet there
In England, there is a national catalogue of genetic tests, the National Genomic Test Directory, supported by seven major laboratories under uniform standards across the country. In Italy, such coordination does not exist. "The issue of inequality of access is really something we hardly know where to begin", Faravelli admits.
The awareness, the geneticist assures, has long been present within the medical profession. What is missing is the ability to get going in a regionalised healthcare system that creates inequalities instead of eliminating them. But something is moving: caregiver support, narrative medicine, multidisciplinary pathways, telemedicine. Small steps towards a vision of care that embraces not only the patient, but the whole system of relationships that support her/him.
Because caring is not an add-on, it is not a luxury. It is an integral part of medicine.
This article is part of the editorial project 'Technology and empathy: the new story of care with Esaote and PEOPLE', which is a collaboration between Esaote and PEOPLE Magazine.
