Rare Diseases Virtual Case Management

I am Dorica Dan, the founder of RPWA (Romanian Prader Willi Association) in 2003, RONARD (Romanian National Alliance for Rare Diseases) in 2007 and Romanian Rare Cancers Association in 2011. I am a mother of a young girl with a rare diseases. I opened the first Centre for Information about Rare Genetic Diseases in Romania and initiated the National Plan for Rare Diseases in Romania. In June 2011 I opened the Pilot Reference Center for Rare Diseases "NoRo" www.centrulnoro.ro funded by EEA & Norway Grants. I was a board member of IPWSO (2007-2013)- International Prader Willi Organization, I am a board member of EURORDIS-Rare Diseases Europe since 2007 www.eurordis.org  and I was part of the European Commission Expert Group on Rare Diseases. I am a member of European Council of National Alliances, an Ashoka Fellow since 2018 and member of Economic and Social Council and National Council for Rare Diseases.

More than 90% of the rare diseases patients in Romania are still undiagnosed,  they don’t know what to do, where to find support. The root causes of this problem are found in the:  system of education, system of diagnosis and care for rare disease patients. Care pathways for RDs are not structured or don't even exist in villages where live half of the Romanian population. In the System of Diagnosis and Care for rare diseases in Romania there is a need to:

• to make the case on the urgency of the problem; 
• train with empathy and real case studies examples and increase the role of community nurses to spot and refer patients with rare diseases to Centers of Expertise;  
• leverage technology to ensure the connection and coordination; 

This would lead to structuring of care pathways for isolated patients with rare diseases to ensure faster access to diagnostic and care; 

More than 90% of the rare diseases patients in Romania are still undiagnosed or misdiagnosed, they don’t know what to do, where to find support. About 50% children, 65% of patients have to visit at least 7 different physicians before diagnosis, 40% patients are misdiagnosed at least once until they are diagnosed. In Europe live 30 millions  patients with rare diseases and approximately  350 millions  at global level.

Rare Diseases affect more than 1 million patients in Romania, lost in the system and 50% of the Romanian population live in the villages with no access to proper care services. While our country has a good IT infrastructure, the care infrastructure is inefficient or don't exist in isolated rural areas.  That has a huge impact and the situation is quite similar in many countries. 

In terms of economic and social burden, according to Rare Barometer Survey 85% find that the cost of care of patients is high or very high for families, 63% of patients reported that the rare diseases limited their job options and  have smaller income for the families. There is no communication between social and medical services or between local experts and Centers of Expertise for rare diseases.

Our project will built a virtual case management platform for patients with rare diseases and design an online training for community nurses as case responsible, putting them in contact with experts, addressing the needs of the most vulnerable persons with rare disorders. It will equip communities with the right knowledge, at the right place, at the right time, mentoring for sharing knowledge and expertise, developing pathways for patients with rare diseases, bringing together families, community nursing, social services and medical experts. Through our project we will empower community nurses all over the country to use case management for rare diseases and equip them with digital support tools for this activity, connect  with the relevant services and Centers of Expertise in the country to refer patients with rare disabilities We will build a virtual case management tool and train community nurses to ensure  faster access to all these resources. In order to offer the proper knowledge about rare diseases we will engage health care providers to participate in case‐based learning under guided practice to provide specialized care to their own patients and utilize technology to promote mentorship and sharing of knowledge and experience by experts and peer support

Our project is addressing more than 1 million patients with rare diseases from Romania and a total of 4 million people who are their family members and caregivers, which means a huge impact on 20% of the total population of our country. But, the method that we are developing will be available to be up scaled through international networks that we are part of.

In order to understand the needs of our beneficiaries we  will use a methodology called user testing to learn from our beneficiaries and stakeholders about their needs, building a prototype before doing the final product and testing its utility with patients, case responsible and case managers. So, our beneficiaries will be involved from the beginning of our project and their opinions and feedback are very important for us in order to create useful tools and support coordination of care. They will also be involved in making the case for integration of virtual case management for rare diseases into the national care system. The online training process for community nurses will involve real case presentations and challenges from patients that will be solved by case responsible (community nurses) and case managers (experts from Centers of Expertise.

Our project offer opportunities for patients with rare diseases, including those from isolated communities using technology, connect them with community nurses and experts at Centers of Expertise for rare diseases in meaningful ways. We will also train community nurses. The sessions will be designed around case-studies, learning and mentoring and help community nurses to gain the expertise required to provide case management for patients with rare diseases, especially in isolated communities. Community nurses gain skills and confidence, doctors from Centers of Expertise will better cooperate with case responsible to coordinate care and learn new approaches to apply their knowledge. 

Our daughter has been late diagnosed with Prader Willi when she was 18 years, in Italy. We have realized that this is happening to most of the people affected by rare diseases and the waiting time can lead to wrong diagnoses and sometimes to wrong intervention. We even met people that had several surgeries that should not be done, only because doctors didn’t know their diagnostic. 

We advocated to have a national strategy for rare diseases, establish in 2011 NoRo Center, implemented different projects, including INNOVcare, to bridge the gaps between health and social services to improve care of people with rare diseases. In 2018 I became an Ashoka fellow and presented for the first the idea of virtual case management for rare diseases. 

We advocated to have community nurses involved in case management for rare diseases and this is included in the national legislation for community nursing. They are working all over the country, including isolated villages, know better than anyone the problems of people in these communities and with a proper training they can spot and refer patients. Providing them with this digital solution will support their job and reduce the waiting time for patients. 

I am a mother of a girl with a rare disease, I had polio and my husband was also diagnosed 5 years ago with a rare disease, none of these have a cure but timely care is vital and I really understand that the waiting time is not working in favor of the patients.  80% of rare diseases are of genetic origin and are often chronic and life-threatening and more than 90% of patients with rare diseases have no treatment, but therapies are crucial for autonomy and quality of life.

I understand that technology can support integrated care provision to alleviate the impact that rare diseases have on the daily life of people affected.

Rare diseases not only affect the person diagnosed - they also impact families, and society as a whole and we are searching possibilities to reduce the waiting time until the diagnose and to improve the quality of life for the patients and their families, ensuring continuity of care and coordinated care pathways. Rare diseases represent a health care problem at global level and have to properly be addressed so that nobody have to be left behind.

Romanian Prader Willi Association(RPWA) and Romanian National Alliance for Rare Diseases (RONARD) are in the unique position of having developed services for patients with rare diseases and representing their voice at national level and  being actively involved at international level for the last 13 years. We are part of different networks at national and international level. Our centre for rare diseases (NoRo) is accredited as a center of expertise by Ministry of Health, initiated a national network (RO-NMCA ID) for congenital anomalies with intellectual disabilities and with this network became part of the European Reference Ithaca. It is also part of the RareResourceNet – the European network of resource centers for rare diseases. We are members of Eurordis – Rare Diseases Europe, Rare Diseases International and International Prader Willi Organization. The president of RPWA, RONARD is member of the board of EURORDIS, National Council for Rare Diseases, Economic and Social Council, Ashoka fellow, vice president of RareResourceNet and ePAG chair of ITHACA.

We are working to change the system of diagnosis and care for rare diseases in Romania: making the case of the needs of patients with rare diseases for earlier access to diagnose, to spot and refer patients to primary health and social care, to improve diagnostic and care and ensure connection and coordination between primary, secondary and tertiary healthcare.

This will lead to structuring care pathways for rare diseases, involving community nurses, offering them the right skills and digital tools to connect with experts and coordinate patients’ care.

The biggest challenge for our association was to be recognized as an equal partner by professionals in the field of health and by the local and national authorities, to have a real partnership with other health care providers in the country to ensure continuity of care. We have created a common advocacy framework for a National Plan for Rare Diseases and common actions at national and international level with our patient organizations and professionals in the field, services for patients and many opportunities to work together. We organized the Rare Diseases School for journalists and promoted with their support the common achievements and the main challenges faced by patients and experts.

To develop the strategy for implementation of case management for rare diseases we had to pilot it, advocate and mobilize resources at national level. We have realized that one organization will not be able to pay the case managers all over the country so, we have advocated to integrate case management for rare diseases in the job description of community nurses. They will become case responsible through training and refer patients to doctors at Centers of Expertise that will become the case managers for patients with rare diseases.  

I initiated Romanian Prader Willi Association in 2003, established Romanian National Alliance for Rare Diseases in 2007 and Romanian Rare Cancers Association in 2011. Opened the NoRo Center in 2011, which is part of European Reference Network ITHACA and accredited as a Center of Expertise in Romania, a Resource Centre for Rare Diseases and a “one stop shop” service provider, including also case management for rare diseases. I am always looking to increase the impact of our work, we created alliances with different actors from public, private and civil sector, amplifying the voice of the patients and their families, sharing best practices cross-borders and connecting stakeholders, aiming for systemic change and sustainable development of services for patients. We became over the years partners with most of the Centers of Expertise in Romania to ensure continuity of care for patients. We are developing innovative solutions in our services: patient registry, helpline, NoRo radio - the voice of patients, and provide online consultation, counseling and organize online therapeutic education and groups of patients on www.centrulnoro.ro. We have initiated a Rare Diseases School for Journalists in order to promote the needs of patients with rare diseases and to change attitude of community.  

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Our project is innovative because it is changing the system of diagnosis and care of rare diseases, with structured care pathways that will enable patients and their families to have access to services and the support they need, at the right time and in the right place, and thus improved quality of life of patients and their families. It has human-centered design as the process begins with gaining deep empathy for people’s needs hopes, and aspirations and enables teams to collaborate and think about problems abstractly, providing tools to build and test ideas

 We will improve the skills of community nurses to become case responsible, spot and refer people with rare diseases to the right experts in the Center of Expertise using technology, mentor ship and case studies. In our project we will all teach, and all learn.  Using the ECHO methodology, we will initiate a online mentoring program designed to create virtual communities of learners by bringing together healthcare providers, patients and experts, brief presentations, and case-based learning, fostering an “all learn, all teach” approach, learning from experts and peers. 

Benefits for patients: enables patients to take greater control of their own healthcare, facilitates quicker and better response to health needs, save time, enables patients to monitor condition, helps improve patients’ understanding of different aspects of their condition.

Benefits for healthcare professionals: access to (better) data to help with diagnosis and decisions about treatment, save healthcare professionals time and create opportunities to provide care and support.

We believe that a system changed for diagnosis and care for rare diseases, with structured care pathways would enable patients with rare diseases and their families to have access to services and the support they need, at the right time and in the right place, and thus improved quality of life of patients and their families.  using a Virtual Case Management tool.

Our project will leverage technology to help elevate our hearts, minds, compassion for people affected by rare diseases and their families, using virtual case management tool to connect them with case responsible and case managers and bring them closer to the community, enabling every nurse and expert to develop and upscale their cognitive and emotional ability to express their full potential and adapt to  change.

Specific outcomes:

• Trained community nurses as case responsible and doctors in Centers of Expertise as case managers
• Virtual Case Management  tool help with faster access to diagnosis and care
• Improves Treatment / Care Pathways 
• Improved quality of life for patients & caregivers
• Reduced financial burden for caregivers & patients

Key features of Virtual Case Management tool to help with diagnosis:

• self-diagnostic tool that matches patient with a relevant community nurses
• registry of primary healthcare workers (case responsible) in the community that patient can access and call on for a physical visit 
• online tele medicine visit via the App - can see patients from the comfort of their homes/ clinic, without having to travel
• medical data/ prior interaction online repository (easy to fill out by the Case Responsible / Patient)  that Case manager can access from cell phone/computer to help get to the right diagnostic
• tele medicine tools - case manager can do tracking of the patient via teleconference or via electronic tools
• map of existent services eligible to care patients with rare diseases

We are working for this project for 2 years: advocated for a policy framework to introduce case management for rare diseases patients to community nurses job description, prepared the virtual case management concept and strategy with probono experts from Ashoka as part of the Accelerating Health Access supported by Philips.

More than 1000 people affected by rare diseases, children and adults are currently benefiting by the services of NoRo Center every year. In the next year, the number of beneficiaries will increase to 5000 through virtual case management and community nurses network and in five years will increase at 100.000 beneficiaries that our project will directly and meaningfully affect.

Digital health could optimise knowledge exchange and improve care delivery for rare diseases by allowing the pooling and combination of different types of data, from various sources and across countries. Rare disease populations tend, by definition, to be fragmented geographically. Patients very often live far from an expert in their disease, and whilst in the past this ‘geographical lottery’ has led to patients travelling (or even relocating permanently) to be closer to centres of expertise for their conditions, advances in digital solutions and e-Health are facilitating virtual care. The complex nature of rare diseases also often requires multidisciplinary expertise for optimal diagnosis, care and treatment. 

Our goal is that 50% of the patients with rare diseases in Romania to have access to diagnosis and proper care by 2025. 

For the first year we intend to finalize the Virtual Case Management tool that links (electronically) the various stakeholders in the RD system (patients, case managers, case responsible, pharma companies, payers), with an underlying data/medical records layer, to enable a faster diagnosis and facilitating / structuring the optimal care pathway for each patient. We will also organize training courses for case management using ECHO model and start implementation of virtual case management, including 10 centers of expertise as pilot. We will advocate to introduce the training of case responsible and case managers for rare diseases and the Virtual Case Management in the National Plan for Rare Diseases.

In the next years, all the case responsible will use virtual case management for rare diseases and all centers will be included. The number of beneficiaries will increase to 100000 patients/ year. By the end of the fifth year we will integrate the Virtual Case Management in the national health care system, will share the concept to other countries/organisation. We will provide training through our international networks for rare diseases where we are members and support other National Alliances for Rare Diseases to implement the system in order to structure their care pathways, improve the timely access to care for patients with rare diseases and reduce their waiting time until they get diagnose and the care they need.

Patients with rare diseases live very often far from an expert in their disease, have to travel or even relocate permanently to be closer to University Hospitals where they find expertise for their conditions. The complex nature of rare diseases also often requires multidisciplinary expertise for optimal diagnosis, care and treatment.

Community nurses are not consider by some stakeholders relevant professionals that can support patients with complex and rare conditions and some doctors are not very happy that we intend to include them as case responsible for patients with rare diseases.

Digital health can optimise knowledge exchange and improve care delivery for rare diseases by allowing the pooling and combination of different types of data, from various sources and across countries. Rare disease populations tend, by definition, to be fragmented geographically. Cross Border Health Care Directive and organization of ERNs- European Reference Networks and accreditation of Centers of Expertise improved the care and expertise access.   

Advances in digital solutions and e-Health are facilitating virtual care and knowledge transfer but still, patients from isolated communities don't have access to information and don't know what to do. They need support and our main goal is to support the most vulnerable and isolated people, connecting them to expertise with the support of community nurses. 

The problem of multidisciplinarity can be solved by the Centers of Expertise through real partnerships to complete the expertise that they don't have or services that they do not have. 

The training approach will be designed to make it as simple as possible for people to share knowledge. We will use an online platform that bring all stakeholders together. We will focus on increasing community nurses knowledge and skills in topics of rare diseases. During our sessions, patients and experts present  best practice strategies and challenges, and discuss the application of those strategies in their practice and how to solve specific problems. Learning practical care coordination skills from experts and peers within a multi-professional community where all learn and all teach will allow participants to better understand, communicate with empathy and improve their professional skills and elevate humanity.

The eHealth solutions are still not integrated into the health care system but the COVID-19 crisis determined the govern to be more open to these solutions. We will advocate for the introduction of digital solutions in national programs for health. 

With the support of the IT provider and the consultants from AHA - Accelerating Health Access we will overcome all the GDPR and other legal requirements and technical challenges.

The main partners for probono expertise are Ashoka and Philips that promoted our project through Accelerating Health Access Program and  Human Collective that support our team to develop user testing methodology with a human-centered design. It is a process that begins with gaining deep empathy for rare diseases people’s needs hopes, and aspirations. They support and enable our team to collaborate and think about problems abstractly, and provides tools to build and test ideas. We have weekly calls with the team of experts since April 2020 until November 2020, we had a mid term presentation at the end of May 2020  and will have the final presentation at the Virtual Summit: Nov 5-7th 2020. 

We are also communicating with Gemini Solution, an IT company in order to design and prepare the virtual case management tool key features according to the needs of patients. We invited them in February at Rare Diseases Day at a round table with Commission of Health and Commission for Technology and Communication in the Senate of Romania to debate with all the stakeholders, including patients, families, industry and policy makers about the need  of Virtual Case Management for Rare Diseases. 

We asked for a partnership with Ministry of Health to train community nurses as case responsible for rare diseases.

We aim to lower the rate of undiagnosed patients in Romania, shortening significantly the time for diagnose, getting right treatment and lowering the costs for society. 

We do this by providing a digital platform that links the missing dots in the national healthcare system between patients of rare disease, primary & secondary care and social systems. 

Around 20% of the population in Romania is affected directly or indirectly by insufficient access to healthcare and ineffective cure for rare disease patients. The main challenge is the missing links between the primary healthcare system and experts. 

We will provide online training for community nurses to become case responsible for patients with rare diseases, to gain knowledge and empathy for families with rare diseases and communication skills to refer them to the case managers at Centers of Expertise using a digital tool for case management.

Our approach is a B2B model integrated with the non-profit organization. In terms of market opportunity, rare diseases are "not so rare", so there is a  large market : 

•4% of the total world population, or 300 million people worldwide, affected by one of over (7,000) rare diseases at any given time (excluding rare cancers) .  Definition (EU): affects no more than 5 people in 10.000.  

•In Romania, a country of 19 million people, estimated at over 1 million people with RD

Because we are addressing a vulnerable segment of the population, we intend to advocate for integrating the virtual case management in the health care system.

The main approach will be  service subsidization, to convince the national Health Care Authorities to integrate our Virtual Case Management into the health care system and local authorities (the main service provider at local level) to reimburse the use of the digital tool and training for community nurses.

In order to do so, we are working on the strategic documents in the Accelerating Health Access (AHA Globalizer program) with the support of Ashoka and Philips making the case document in cooperation with National Institute for Quality of Life. We will also organize interview guides and digital mock-ups for users in a probono partnership with Human Collective group of experts. 

We will also look for grants from pharmaceutical companies and other grants available at national and international level to create the digital tool. 

Another potential revenue may be promotion on the map of services other health and social services available at national level.

We were asking for grants from Novartis and Pfizer to create the Virtual Case Management tool but, for the moment, we are under assessment process. We also intend to apply for European funds.

We are in the process of Accelerating Health Access, a multi-year program to accelerate access to healthcare around the world by connecting social entrepreneurship with industry skills. 

Accelerating Healthcare Access (AHA!) is an ambitious movement between leading health technology company Philips and social entrepreneurs, which addresses United Nations' Sustainable Development Goal 3 (ensure healthy lives and promote well-being for all) by scaling up social innovation.

These social entrepreneurs—selected by Ashoka for their ability to make systemic change and increase access to healthcare—will achieve their goals with support from the skills and expertise of talented and seasoned business leaders within Philips.

Also, we succeed to have the probono partnership with Human Collective group of experts, which don't bring money but, we are having the best expertise without spending money for some parts of our project and ensure that our objectives are achievable and sustainable.

We intend to apply for European funding.

We estimated our expenses for 2020 at 150000 $ for strategic consultation on technical aspects for Virtual Case Management, achievement of stage 1 Virtual Case Manager for rare diseases tool, implementation of costumer interview guides and digital mock-ups for users, making the case report, advocacy and training of community nurses (case responsible) and case managers from 10 Centers of Expertise.  

We are applying for the Elevate Prize as we don't have funding to achieve our goals: to create the digital tool for virtual case management and to train community nurses as case responsible and the case managers from Centers of Expertise. Patients who are most isolated and vulnerable might not be able to use technology and the support of community nurses from their proximity is essential. But also, the community nurses need a dedicated training to raise their knowledge and understanding of rare diseases patients' needs and elevate humanity.  

We are aware that mentorship and coaching, educational training, capacity building, and connection with influencers, industry leaders, and experts through Elevate Prize Foundation’s two-year program might be extremely useful to upscale our solution at international level. Also, a tailored media and marketing campaign aimed at amplifying our work, building recognition and inspiring others will contribute to the public good.

Living in a country where the health care funds are less than 5% from GDP (last place in European Union) and working for nonprofit - patient organizations, funding and revenue model are always a learning need.

In order to develop sustainable services for vulnerable people we would need mentorship and coaching from experienced people in the field. 

Virtual Case Management tool require a lot of attention for GDPR compliance as we will work with sensitive data of patients with a vast majority of genetic diseases. 

As patient organization we are focused on service design and delivery  and not always aware of marketing and media exposure. We permanently have to learn and improve our skills, especially to promote innovative solutions. 

We would like to become partners of MIT Solve to learn how to scale our solutions to meaningfully impact the lives of millions of people around the world.