Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

Marta Figueiredo PhD avatar

by Marta Figueiredo PhD |

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People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe.

Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5, the survey results show.

The survey identified three “priority” healthcare areas for improvement: follow-up consultations, guidance on resources and support, and psychological assistance.

“The results of this survey confirm that there is still work to be done to improve the healthcare experience of people living with a rare or complex condition,” Inés Hernando, the director of Eurordis’ European Reference Networks (ERNs) and healthcare, said in a press release.

“We invite healthcare providers, clinicians and hospital managers, and health and social care authorities to analyze the results, extract lessons, and use them to inform future service redesign and policy interventions,” Hernando said.

Eurordis, which stands for the European Organization for Rare Diseases, is a nonprofit, patient-driven alliance of more than 950 rare disease patient organizations from 73 countries. Its goal is to improve the lives of people living with a rare disorder in Europe.

Its 24 ERNs are virtual networks that connect healthcare providers across Europe. These networks are used to facilitate discussion on issues and developments in rare or complex diseases and to provide the best care for these patients.

To better understand how to improve medical care for rare disease patients, Eurordis conducted the H-CARE pilot survey using its Rare Barometer Program, a survey tool created to systematically collect patient and caregiver opinions and include them in the policy and decision-making process.

H-CARE is the first large-scale survey measuring the healthcare experience of people with rare diseases.

In the absence of a validated measure to assess such experience, patient representatives and clinicians from four ERNs adapted the validated Patient Assessment of Care for Chronic Conditions (PACIC) questionnaire for rare or complex diseases. Two psychologic care-related questions also were added.

This resulted in the design of two questionnaires: the Patient Assessment of Care for Rare and Complex Diseases and the Caregiver Assessment of Care for Rare and Complex Diseases.

Both asked patients or caregivers to rate how often, on a scale from 1 (never) to 5 (always), healthcare providers had considered certain care aspects over the previous six months. The surveys addressed care from follow-up after a consultation to care coordination, or how to manage patient health in daily life.

Participants were recruited online and at 36 hospitals. Patients living with a disease treated in one of the four ERNs that initiated the survey were specifically encouraged to take part. Those four networks focused on lung diseases, kidney disorders, genetic tumor risk syndromes, and urinal, colorectal and genital diseases.

Conducted between December 2019 and March 2020, the survey was completed by 3,905 respondents — patients age 12 and older or their caregivers.

The respondents represented more than 900 diseases and came from 65 countries around the world.

The results showed that rare disease patients gave their healthcare experience a median-low score, with a mean of 2.5; the scale ranged from a low of 1 to a high score of 5.

This score was lower than that reported by 70% of studies surveying chronic disease patients through the PACIC questionnaire, suggesting that rare disease patients have a worse healthcare experience than those with chronic diseases.

“While both require multidisciplinary care and have broadly similar needs, patients with rare diseases seem to have a harder time accessing care that meets their needs,” Eurordis stated in the release.

In addition, responses from both patients and caregivers highlighted that healthcare services only occasionally consider key healthcare aspects such as follow-up consultations, orientation toward support groups, and appropriate psychological and emotional support.

“My experience in different hospitals throughout my life is that only medical aspects are attended to. The psychological and emotional part is not taken into account nor is there a joint multidisciplinary treatment,” one survey participant said.

There also is little concern for caregivers, according to many respondents. Moreover, recommendations to improve everyday self-management of the disease and coordination between healthcare providers could also be better, respondents said.

“There is usually no communication within the team and there is no coordination, which usually falls on the main carer,” one survey participant who is a caregiver was quoted as saying.

The survey also was used to assess the healthcare experience of 1,319 patients and carers living with rare diseases affecting the kidneys, lungs, the urogenital area, and genetic tumor risk syndromes, who were treated or not in the ERNs’ Centers of Expertise.

Data showed that patients followed at these centers reported a better healthcare experience than those treated in other non-expert centers.

“Before getting taken on by [Centre of Expertise] as a rare disease patient, I had over twenty years of poor care. But [Centre of Expertise] now looks after me incredibly well,” one survey participant said.

Still, healthcare areas for improvement were the same between specialized and non-specialized centers.

These findings emphasized that “there is still plenty of room for improvement and redesign of health and social services to meet the needs of people living with a rare or complex condition in Europe,” Eurordis said in the release.

Based on the survey responses, the organization recommended that healthcare providers go beyond diagnosis and medical care by investing in follow-up contacts, psychological support, and recommendations to help patients manage their health on a daily basis.

Eurordis also recommended that healthcare services ensure that rare disease patients have access to multidisciplinary, networked, and high-quality, specialized care. This includes facilitating timely access to in-person and virtual cross-border expert advice when such expertise is not available in the patients’ home country, and promoting knowledge sharing between Centers of Expertise and other healthcare providers.

Lastly, the organization highlighted the need for developing and implementing a specific and well-adapted questionnaire to measure the healthcare experience of people with rare diseases and their caregivers to set quality healthcare standards.

With this survey, Eurordis hopes to inspire policymakers and healthcare stakeholders to develop ways to improve the quality of care delivered to people living with a rare or complex condition in Europe.

More information on how to be part of Eurordis’ patient and caregiver community and participate in its surveys and studies can be found here.

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