You Are Not Alone - (Helping Families with Rare Diseases)

Out of seven thousand Rare Diseases (RDs) detected in Asia, only thirty-one RDs recorded in Indonesia that affected children and adult. with about four hundred confirmed patients of more than 230 million Indonesia populations. Due to several reasons, presumably, there are about two hundred thousand of people are yet to be well diagnosed because of limited understanding on RDs signs and symptoms either by the health providers and their family members. To detect RDs, it is essential to have RDs screening, basically on how and where to get access to screening and diagnostic services. Should people with RDs be detected, series of actions need to take place by a team of family members and professionals who will work in close collaboration to provide treatment to the patients, i.e., confirmation and diagnosis process and decision making to schedule the follow up actions such as getting the second opinions and manage the patients to get comprehensive diagnosis and therapy. 

RDs detection brings awareness among significant others about decision related to heartful decision on a long intensive process – for lives - that in many cases results in a period of denial, stresses, and depressions to family members or even to those with RDs themselves. They may also experience stigma (or self-stigma) that the condition was related to social misconduct, and that may even lead to harsh discrimination coming from family members, close relatives, friends, neighbors, or even fellow workers. People living with RDs may put extra economic burden to the family especially who are already living in the poverty line. Thus, this situation can lead to economic catastrophic to the family which will impact with difficulty in accessing diagnostic and treatment. Since RDs are extremely hard to find and those who have RDs are living in the household, then it is ideal to use the existing population-based health application owned by the Ministry of Communication and Information "PEDULI LINDUNGI". By using that platform, we could advance the application with Mental health and Psychosocial Service link that could be accessed by families, particularly those having their member with RDs. We complete the platform with brief information about RDs, how to access legal service and paralegal for social justice supports addressing stigma and discrimination at schools, at community, at workplace and wherever we find them. 

“PEDULI LINDUNGI” is a digital platform to respond to COVID19 Pandemic nationally developed by the Indonesia Ministry of Health and Ministry of Communication and Information. "PEDULI LINDUNGI" is a publicly accessible application to health and social service providers used by public service organizations and individuals and is linking to the national population database. This app connects the data with that of registered health and social providers, including institutions providing laboratory and other diagnostic services, hospitals, and other related services. To date, this app is used for COVID19 related purposes, and is the main tool for authorities to assess people’s mobilities and travel destination. There is a use of this app beyond Covid 19 as it provides population social number (National Population Identity Number-NIK). Therefore, a proposal to expand this digital platform with additional information on RDs is relevant. We can add information on RDs signs and symptoms, the screening needs, directory to available diagnostic and treatment, and suggestion to access to financial supports using national health insurance. This application is using DHIS-2 free application for interoperability among big data utilized applications, hence, we may need a more advance digital health interoperability information like FHIR for better solution.

Once the Indonesian MoH give their approval to use "PEDULI LINDUNGI" application as the basis for RDs, we could start interoperating it with other digital platform as to access information about other health issues such as Mental Health and Psychosocial support along with directory to pro-bono legal service, paralegal and other social justice helps. then Family members and people with RDs could access those services accordingly.

 We will collaborate with MPS and Rare Disease Society “Penyakit Langka” Indonesia Foundation to advocate the Government of Indonesia for better health access to include diagnostic and treatment and to strengthen RDs patients and family network. We will also collaborate with Centre of Excellence for Rare Diseases at National referral hospital, Cipto Mangunkusomo hospital, that established in 2017 for better management of rare diseases.

Mostly, people with RDs and their families and significant others that by using the expanded PEDULI LINDUNGI digital platform they are able to obtain information on RDs signs and symptoms, the screening needs, the diagnostic and treatment services available as well as to what extent they could get those services as well as possible financial supports. 

Once we have expanded PEDULI LINDUNGI digital platform then we are open to include providers of Mental Health and Psychosocial supports available for people with RDs and their families so that we could address not only clinical issues but also that of psychosocial services through mobile technology at a low-cost services. 

Should they encountered situation that needs legal service providers, paralegal and social justice helps, presumably cases related to stigma and discrimination, be at the workplace, schools or in the communities, then people with RDs and their family would find service of their own areas of expertise to avoid or address harmful effects.

Linked with BPJSK national insurance database, People with RDs who mostly from poor people will have the support from the national insurance to cover for Mental Health and Psychosocial support though mandated by law. It is very important for the Government to include supports for people with RDs and their families for a long treatment for RDs. However, as covering services for poor people would need government and parliament commitment, then people with RDs and their families could act as true voice to advocacy to the parliaments, and especially for financial support needs.

Yayasan Project HOPE (YPH) team comprises of a senior Health System Adviser as a leader, a senior Finance Manager and a team of senior program Managers on Health Information System, Infectious Diseases, Mental Health, Community Health and Emergency Humanitarian Assistance.

YPH has been active in Indonesia since 1960, revived right after the Indian Tsunami in 2014 with a collaboration with Ministry of Health, and registered as Non-profit foundation in Ministry of Law and Human Right in 2018.

YPH has been implementing grants from some private philanthropies like Johnson & Johnson Give2 Asia ($850KMNH, $150K humanitarian aids, $250K COVID19 emergency programs and $450K Mental Health for pregnant women, $1,3M UBS Optimus for COVID19 Infection Prevention and Control, $250K Latter day Saint Charity aids for earthquake victims, $250K Boeing International Community, $90K Beckton Dickinson Strengthening MDR TB laboratories, $117K US-CDC Strengthening the EWARS, $150K MSD and UK- CVC funds for COVID19 emergency.

YPH works in 11 districts of 7 Indonesian provinces to prevent deaths among mothers and infants from COVID19 transmission, and maintain technical collaboration with Indonesia associations for Midwifery, Paediatrician and Obstetricians for Maternal and Infant Healthcare programming and Saving Lives at Birth program in 7 districts. Recently we partnered with Mother HOPE Indonesia for the inclusion of Mental Health Psychological and Social Supports into MCH program, and initiate partnership with WVI, University of Gadjah Mada, HIV+ Network and a local CSO for upcoming $5 million USAID funded Campaigns for TB preventive treatment.

Currently, we are working with Indonesia MoH to develop an application for healthcare worker surveillance that use the SILACAK/NARS, the database for PEDULI LINDUNGI, to capture Healthcare workers contracted and died due to COVID19, linking them with the database of Human Resource in Health within the MoH Manpower division and database at 3 Professional Organizations (Medical Association, Midwifery Association and Nurse organization). Given our recent collaborations, we propose to use FHIR for interoperate different information systems.

We see pertinent potential considerable RDs issues in this one of most populous countries in the world and envision benefits of already existing nation-wide application to help the MoH identify and address RDs issues. Indonesia only recognizes 31 out of thousands of RDs in the health systems. Although Indonesia is still facing significant issues in several most infectious diseases in the world, and lately having to deal with increased trend in non-communicable diseases but considering the country characteristic RDs are not to be left unexplored years ahead. Because everyone matters, including presumably 2 hundred thousand people with their families, and we seek technical support to develop an application RDs that enable those in needs to access Mental Health and Psychosocial support, pro-bono legal, paralegal, and social justice helps.

This application will be a game changer if we can help:

Avert about 2 hundred thousand Indonesians who have RDs' signs and symptoms receiving multiple miss-diagnostics and treatments for diseases they do not have due to lack of knowledge among health providers and families

Facilitate more than currently confirmed of 400 people with RDs to get access to second opinions, screening, and better diagnostic services to gain understanding on the nature and stages of given RD(s) and their necessary treatments

Support about 2000 family members to have access to Mental Health and Psychosocial support and legal/paralegal and social justice supports in dealing with mental issues and addressing stigma and discrimination in schools and workplaces. 

Next year goals are:

- to map and get lists of existing Mental Health and Psychosocial support providers and legal/paralegal and social justice system for free services through the application, and description of potential needs and communities that presumably having higher risks to diseases for mental health and psychosocial supports

- to develop mobile application that provides information on RDs and relevant necessary screenings, diagnosis and therapy, and its directories to providers offering different diagnostic and treatment services completed with descriptions on its products and benefits

In the next 5 years we envision a public use of the application, free access, fully or partly managed by the national health insurance and/or supported by existing national funding scheme or by philanthropies. 

Monthly progress to capture with routine monitoring on key indicators of the development of providers lists (MHPSS, legal support system etc.). Discussion and negotiation with MoH approving access to use PEDULI LINDUNGI interoperable with RDs area will be the first milestone. Other important milestone will be application used by services providers, integrated with providers’ information system, testing them to serve RDs people and Family, and used by other support parties e.g., by selected representations of community.

The data on number of people access the application, duration, and what features will be obtained automatically so we could make an analysis on number of people/hits seeking information and number of people/hits go to access services could proceed.

The outcome indicators will be of Family/People with RDs in terms of survival and wellbeing (DaLYs) through both quantitative and qualitative studies and/or existing statistics.

Current situation is, out of thousands RDs existing, Indonesia reported only four hundred RDs cases having 4 different RDs while presumably there are about two million people having RDs. We aim the change to Indonesians having easy access to Rare Disease information, signs and symptoms, and directory to access to screening, diagnostic and therapy, so that more People with Rare Diseases are able to get the right diagnostic and prompt therapy.

Current situation is, if the Families/People with Rare Diseases found access to information and navigated to service provider, they need to learn nature of the services and how comprehensive the services by experiencing themselves. We envision that with increased number of people knowledgeable, accessing information and services, then gradually the service provider would increase their capacity, quality, and availability. In turn, it will increase wellbeing and survivals.

Current situation is, people have little awareness of the importance of mental health services for people who have problems with incurable disease or permanent adverse condition. It is even worse when the disease was stigmatized with socially misconduct. No longer only physical/physiological issues, family with people having RDs will encountered daily psychological and mental health issues personally, in their household, and socially as parts of the communities. Therefore, if the Families with Rare Disease have easy access to information on how and where to get access to Mental Health and Psychosocial support, and legal/paralegal and social justice helps, they will have a support system personally, in family context, as well socially, so that they will have more chance to reach a better wellbeing, able to deal with their stress and depression, and get helps to deal with stigma and discrimination. 

Current situation is, most people with RDs are not included in the national health system and receive proper support and get their health rights. If the Indonesia MoH application PEDULI LINDUNGI could inter-operate with additional information on rare Diseases, and link with providers on clinical diagnostics and therapy, mental health and legal/social justice helps, then the government will hold accountable of people with RDs and their families could have a better access to services, and their wellbeing and survivals will be improved.

Currently, Indonesia report cares for 31 RD types, with top-5 RDs: Mucopolysaccharidosis (type I, II, III, IVA, VI and VIII), Classic phenylketonuria, 6-Pyruvil Tetrahydropterinsynthase (PTPS) deficiency, Niemann-Pick disease,and Gaucher disease. Several methods to help detect RDs can be employed in a digital mobile application, such as using diagnosis-algorithm questionnaire for family members, or artificial intelligence using portrait facial photos of person with genetic and patient data. Further consultation about temporary result is navigated to the already existing “Center of Excellence for RDs” based in national referral hospital in Jakarta. Any works related to RDs needs to be in close collaboration with a foundation namely Yayasan MPS & Penyakit Langka Indonesia that has done critical efforts to educate people about RDs through various promotional activities.

A support to interoperate existing Indonesia Ministry of Health application for COVID19 response with RDs would provide benefits as to cover larger components in the community and link that with different source of information (i.e., population database, health and hospital providers, laboratory services, national health insurance database, telehealth, and Mental Health and Psychosocial and legal/justice support providers).

The interoperations will use whatever information system platform as approved by the MoH, and most likely, DHIS2, and the more advanced FHIR.

 Above all existing technology as its main program architecture, it is paramount to put to front good communication with main stakeholders and maintain critical network, as much as ensuring the efforts to adhere to the law and regulation (e.g., the server selection and data security). 

Our team consists of a balanced male and female, from 20 to 61 years old from different ethnic groups and regions in Indonesia. We will work to improve equal opportunities to People/Families with RDs who are vulnerable and marginalized in Indonesia that is moving toward universal coverage. At current, they get limited access to services and mostly get multiple inappropriate diagnoses and treatments, and they are stigmatized and discriminated due to the cultural and social structure. We will eliminate those barriers to clinical and mental health services and legal and social justice supports. 

Advocacy for rights to get treatment and social services to those with RDs will also be explored.

The products we offer are services of information, directory to health providers, and a platform for community to provide psychosocial and financial supports. For the authorities, this platform is contributing to achievement of district level health status and provision of essential data on RDs. The networks among health providers and professionals would facilitate increased of service provision to those in needs, and at the same time, give those held responsible for health coverage, or those of philanthropies, a channel to contribute to humanitarian services. Ability to reach wide range of community will provide a media for communication, mostly for public service announcement.

To maintain free access to use application publicly and for Families/People with RD, we explore a potential cost reimbursement from national health insurance, public budget for social cause and from philanthropies. Benefits from health providers to offer their services and as a result in growing number of people with RDs having access to services will maintain the application available. The operation expenses can be, in the long run, managed by the health and social service authorities

At the moment, we managed for successful grant applications and manage about USD 1 million grant annually for the benefits of priority groups of Indonesians. We will maintain the trust from philanthropies through a professional program implementation and financial accountability.  

We will continue to explore funding opportunities for the sake of wellbeing of the Families/People with RDs who are currently marginalized by the health financing system.