As a child, Andoulsi was clumsy and uncoordinated; the one whose joints seemed to move in ways they shouldn’t. Often fatigued, she struggled to keep up with her peers and was told she was lazy. Because her symptoms were multisystemic and vague — from digestive issues to dull joint pain — doctors failed to connect the dots. The 31-year-old dancer and artist in Paris, France, received an Ehlers-Danlos syndrome (EDS) diagnosis at age 24 after countless doctor visits. Throughout her life, gaps in care have at times brought her close to death.

“One of the specialists I saw prescribed me a medication that had a really bad interaction with my epilepsy medication. I ended up in the hospital in a crisis, and it was so scary. It could have been avoided if they had just talked to each other,” Andoulsi told Medscape News Europe. “They just look at their own little part, like the heart or the joints, but they forget that it’s all one body. My epilepsy is part of my EDS; it’s not a separate thing, but they treat it like it is. That’s why I say there’s so much medical negligence because no one is looking at the whole picture.”

Andoulsi’s story is not unique. The hyperspecialization of modern medicine has come at the cost of whole patient care. Across Europe, patients with rare, multisystemic, and chronic conditions are left to coordinate their own fragmented care, a burden that patients, advocates, and health economists say carries both a human and a financial cost, and one that a shift toward integrated, person-centered care could ease.

When Many Parts Ache

Ranjana Srivastava, MD, an oncologist at Monash Health in Melbourne, Australia, wrote in The Guardian that patients have been partitioned into a collection of organs and symptoms; each specialist focused on one narrow piece of illness, but no one is responsible for the patient as a complex whole.

Patients are tossed between appointments, undergoing redundant tests, and repeating their histories to providers who rarely communicate. Having a rare, multisystemic, or chronic disease compounds this fragmentation, turning the patient into an unpaid, exhausted project manager of their own survival, forcing them to arbitrate between conflicting medical opinions while living with debilitating illness.

When a patient presents with a multitude of seemingly unrelated symptoms, clinicians can struggle to spot the common thread.

“Because these symptoms are often subjective and not evaluable through standard, single-organ testing, they are frequently dismissed or misunderstood, especially in their early stages,” said Alessandra Bassotti, MD, an occupational doctor and an EDS specialist at the Policlinico of Milan in Milan, Italy.

Many rare and genetic diseases are multisystemic, manifesting differently from one person to the next. When each symptom is routed to a different specialist, the overarching pathology remains invisible. The burden of proof falls on patients and their caregivers, who must become self-taught researchers and aggressive advocates just to be taken seriously.

The Geography of Abandonment

For patients living with rare conditions, the challenge begins with finding a clinician who can raise an initial diagnostic suspicion. When local general practitioners and regional specialists fail to provide answers, families turn to independent online research, second opinions, and traveling hundreds of miles to specialized tertiary hubs.

To mitigate the physical and financial exhaustion of these protracted diagnostic odysseys, specialized hubs such as the Meyer Children’s Hospital in Florence, Italy, organize same-day or tightly scheduled consultations with multiple specialists to reduce the travel burdens on families.

Yet securing a diagnosis is only half the battle, as long-term clinical stability is ultimately won or lost during follow-up care, Augusto Vaglio, MD, PhD, a nephrologist at Meyer Children’s Hospital, told Medscape News Europe. Effective disease management requires tight, continuous coordination between specialized hubs and primary care physicians. Without this communication bridge, the gap between tertiary expertise and local clinical capacity leaves patients abandoned once they return home, he said.

This care infrastructure proves particularly fragile during the transition from pediatric to adult medicine. While a specialized pediatric center possesses the multidisciplinary framework required to stage a complex disease, day-to-day management shifts to local adult care physicians who may encounter a specific rare condition only once in their careers. Italy has attempted to ease this childhood-to-adulthood transition through regional paths for care meant to tether specialized hubs to the patient’s home. However, Vaglio warned that without a dedicated coordination office to manage ongoing treatment, these pathways quickly dissolve into disconnected dots.

Gendered Blind Spots

Clinical management becomes uniquely fraught when a chronic disease overlaps with complex biological life stages. This reality disproportionately impacts women, who face a higher incidence of many rare, autoimmune, and chronic diseases while navigating hormonal and physical transitions from menstruation and pregnancy to perimenopause and menopause. Despite affecting 100% of the female population, the systemic interplay between these hormonal shifts and other pathologies remains poorly understood.

Katy Antonopoulou, a patient advocate and president of Sjögren Europe, has experienced this disconnect firsthand while living with a rheumatic and musculoskeletal disease through perimenopause and menopause. Hormonal shifts can alter disease activity in conditions like rheumatoid arthritis, lupus, and Sjögren disease, yet this connection is largely absent from standard clinical pathways, she said.

“As a patient, I have sat in that chair where your rheumatologist adjusts your medication because your disease is ‘inexplicably’ worsening, and your gynecologist prescribes for your menopausal symptoms, and neither of them knows what the other is doing,” she said. “You are the one carrying your results from appointment to appointment, trying to piece together a picture that no single clinician will look at as a whole. It is exhausting, and it makes you feel invisible. Not as a patient, as a person.”

The biological reality of being a woman frequently works against patients within a fragmented diagnostic system, Bassotti said. For example, women with EDS routinely suffer from more severe joint symptoms because female anatomy possesses greater joint laxity to accommodate childbearing and birth. Yet because a certain degree of flexibility is structurally coded as normal for women, clinicians frequently dismiss the pathologically loose joints of a female EDS patient as unremarkable, missing the underlying genetic diagnosis entirely.

This diagnostic blind spot widens for those who don’t fit rigid, binary healthcare models. For trans and gender-diverse people, navigating fragmented specialty care introduces a paradox. While their gender identity is often scrutinized by doctors, their actual voices and medical concerns are routinely ignored when they try to advocate for themselves, Stewart O’Callaghan, founder and CEO of OUTpatients and co-chair of the LGBTIQ workstream of the European Cancer Organization’s Inequalities Network, told Medscape News Europe. “Transgender-inclusive care is the real test for a system’s commitment to person-centered care.”

When clinical guidelines and referral pathways remain strictly binary, they fail to account for the pharmacologic or physiologic complexities introduced by gender-affirming hormone therapy, leaving clinicians unequipped and patients alienated. Pervasive myths internalized within institutional medicine create avoidable gaps in preventative health, such as the lingering misconception that lesbian women do not require routine cervical screenings, he said.

Ultimately, this geography of abandonment forces vulnerable patients to make harrowing cost-benefit calculations just to access routine or specialized care. For women and marginalized genders, the physical and economic toll of traveling to a tertiary center is frequently compounded by domestic realities, making it difficult to balance medical needs with daily life, O’Callaghan said.

“If you don’t live in a large city, you are forced to travel hundreds of miles just to get your needs reaffirmed. For patients with young children or dependents, fitting fragmented appointments into a fragile daily schedule presents an immense systemic barrier.”

For gender-diverse patients, this creates a second, exhausting layer of fragmentation, forcing them to source a specialist who is not only an expert in their specific chronic pathology but who also possesses competency in gender-diverse health. The lack of local, inclusive care means some patients routinely travel across countries just to receive routine gynecologic screenings or specialist check-ups from an affirming provider, absorbing a physical and financial burden simply to secure the basic right of feeling safe and believed, O’Callaghan said.

The Economic Case for Reform

The failure to provide integrated care is more than a clinical oversight; “it is an economic tragedy,” Alejandro Gil Salmerón, PhD, a senior researcher at the International Foundation for Integrated Care (IFIC), based in Spain, told Medscape News Europe. Public health authorities resist systemic overhaul because dismantling institutional silos requires an upfront investment. However, data suggest that the status quo is far more expensive, he explained.

He argued that the current fragmented model creates a mounting “care debt” — a deficit of health outcomes and institutional efficiency — that European healthcare systems are struggling to repay. This financial drain becomes most visible in the reactive, high-cost emergency interventions imposed on complex patients. Because departments fail to communicate, the system misses early diagnostic windows and defaults to emergency treatment.

For instance, Salmerón recalled an IFIC pilot project tracking cancer screening among vulnerable populations in Madrid. In one case, a migrant woman’s cancer went unnoticed until it reached stage IV. The cost of an annual mammography was far cheaper than the end-of-life palliative hospital bed she required just 6 months later. Yet because the system operates reactively within silos, it absorbs these catastrophic late-stage costs rather than paying for upfront prevention, he said.

This dynamic fuels inequity in access to care, Salmerón said. A healthy person with an acute, isolated condition — for example, seasonal flu — can step in and out of a siloed system without noticing its structural flaws, he said. However, a complex patient with multisystemic conditions or intersecting vulnerabilities is forced to navigate a dizzying labyrinth of uncooperative departments.

“This navigation becomes even more unequal depending on structural barriers, such as employment-linked health insurance systems in countries like Germany and Austria, which frequently leave undocumented people, migrants, or marginalized groups like trans people, who experience higher rates of unemployment, with no medical safety net at all,” Salmerón said.

IFIC research demonstrates that shifting to a person-centered model is cost-effective over time. However, the data also reveals that not all forms of integration yield identical value, making local context critical, Salmerón explained. The transition requires an upfront investment — typically spanning 2-3 years — to fund digital infrastructure, cross-specialty communication tools, population management frameworks, and multidisciplinary training, he said.

“It is really complex for public authorities to break the status quo and move to a more person-centered, continuous, coordinated way to work,” Salmerón admitted. “Many stick to traditional structures simply because they lack the immediate budget to fund the transition. But without this shift, the result is a sad reality where we are losing lives along the way or leaving communities behind.”

A major portion of these long-term savings comes from addressing the social determinants of health. Salmerón said that a siloed system frequently treats a medical symptom while ignoring the living conditions vital to recovery.

“The system is so siloed that they are discharging the patient and they are saying, ‘Okay, you need to clean your wound three times a day,’ but they are not thinking if the patient has a home, if the patient has water, if the patient has the conditions to do that. They are just focusing on the clinical part, but they are forgetting the social part.”

This omission creates a costly “revolving door” effect, where patients are treated via expensive clinical interventions only to relapse because their baseline environment prevents compliance.

Andoulsi, who watches years tick by on waiting lists while specialized care coordination costs thousands of euros out-of-pocket, said: “If I had 12,000 €, maybe I would find things to make my life easier.”

From Disconnected Dots to Integrated Solutions

To break this cycle, patient organizations are stepping in as the operational bridge that healthcare infrastructure fails to provide. They offer the cross-disciplinary education, tracking tools, and advocacy networks that patients need to connect disparate fields such as rheumatology, gynecology, and internal medicine.

In its international consultancy work, IFIC conducts rigorous, multi-sector evaluations — from crisis resolution services to digital health reforms, to design safer, shared care pathways for complex neurologic and chronic conditions.

“Rather than imposing a one-size-fits-all magical solution, the goal is to shift healthcare design so that patients are treated as active partners in their own care, rather than passive objects divided among medical sectors,” Salmerón said.

He added that healthcare systems traditionally label marginalized, complex patients as hard-to-reach populations. “But the reality is that the population isn’t the problem. If a community is hard to reach, it is because the service was never designed for them in the first place.”

When integrated care is successfully implemented, whether through single-day multidisciplinary clinics or dedicated care coordinators, the results extend far beyond improved metrics, said Antonopoulou.

“When it works — when a rheumatologist and a gynecologist actually sit together and look at the full picture — the difference is transformative,” she said. “I have seen patients who had been struggling for years finally stabilize, not because of a new drug but because someone finally connected the dots. And what patients describe in those moments is not just clinical relief. It is the feeling of being believed. Of being seen as a whole human being.”

Andoulsi, Antonopoulou, Bassotti, Vaglio, and Salmerón reported having no relevant financial relationships.

Manuela Callari is an independent science journalist specializing in human and planetary health. Her work has been published in The Medical Republic, Rare Disease Advisor, New Scientist, The Guardian, MIT Technology Review, and others.