The United Nations’ non-governmental organization (NGO) Committee for Rare Disease held its Rare Disease Day event on February 21, 2019 at the United Nations Headquarters in New York City.
The event included a who’s who of the international rare disease committee providing ideas on how to better manage people with rare conditions. Among the topics covered were finding ways to have sustainable goals for rare diseases, human rights, universal health care, better inclusion of rare disease patients in scientific research, and examples of rare disease strategies in place within various countries (Iran, China, Brazil, Romania, Philippines, South Africa, Japan, France, Columbia, etc).
One of the key themes stressed throughout the day was United Nations’ “Leaving No One Behind” 2030 initiative— one that was adapted last year to provide social, mental and physical assistance to all persons in the world.
The Leaving No One Behind agenda states “As we embark on this great collective journey, we pledge that no one will be left behind. Recognizing that the dignity of the human person is fundamental, we wish to see the Goals and targets met for all nations and peoples and for all segments of society. And we will endeavour to reach the furthest behind first.” That includes people with rare diseases.
Leaving No One Behind
Mr. Andrew Gilmour, Assistant Secretary-General for Human Rights and Head of the Office of the High Commissioner for Human Rights in New York expanded on the concept on Leaving No One Behind by pointing out that people with rare disease continue to be stigmatized, especially in less developed countries. Gilmour noted that while the ‘right of health’ is discussed in political and policy circles quite often, the reality is that the right of health is missing for people with rare conditions. And the concept extends beyond just the health of the person. Gilmour stated that children with rare diseases lack access to programs at school and adults with rare disease lack the employment opportunities that healthier people have. Gilmour expressed the need for a transformation within health care programs that emphasizes equality rather than efficacy. It is only through that transformation that all people will have the same human rights.
Human rights and equality also extend into the costs of care.H.E. Vitavas Srivihok, Ambassador and Permanent Representative, Permanent Mission of Thailand to the United Nations stated the United Nations committee is looking into the concept of a Universal Health Coverage so that a family dealing with a rare disease is not destined to a life of poverty. These thoughts were echoed by H.E. Toshiya Hoshino, Ambassador and Deputy Permanent Representative, Permanent Mission of Japan to the United Nations. Japan is leading the way in managing people with rare diseases. Hoshino noted that the United Nations General Assembly will be meeting this fall to further discuss Leaving No One Behind and Universal Health Care. Hoshino cautioned that Universal Health Care is only possible if the assembly focuses its efforts on including the rare disease community.
Mr. Alain Weill, President of World Hemophilia Federation and member of board of NGO Committee for Rare Diseases added that while Leaving No One Behind is a needed concept, a lot of work remains to make it a reality. To that end, Weill introduced Dr. William Gahl, Chair, Undiagnosed Diseases Network International (UDNI) and Clinical Director, National Institutes of Health, National Human Genome Research Institute. Gahl discussed the ‘ultimate no one left behind’ person which is someone with an undiagnosed condition. The work at UDNI and the NIH provides an opportunity for people with an unknown condition to be diagnosed. Their work is helping many patients but also transforming science. Their team is redefining how to diagnose people and publishing papers that will hopefully change the way many doctors think about diagnosing people who do not fit into a normal pattern of symptoms. As an interesting side note, Gahl stated that the key to many diagnoses is not the genetic testing being done but just having different doctors talking to one in other and having the time to explore options.
Another transformational program underway is one involving computer science. Dr. Simon Kos, Chief Medical Officer and Senior Director, Worldwide Health, Microsoft & member of the Global Commission on ending the Diagnostic Odyssey of Children with Rare Diseases noted that diagnosing rare diseases is a field that is under researched and underfunded. Kos said a major problem with the current system is that it has limited human resources to diagnose people. In contrast, technology is not limiting. Therefore, corporations such as Microsoft can contribute technological information to empower patients and doctors with more technical medical information that can be more readily understood and shared. Right now, the Global Commission has 4 pilot programs underway to explore better ways to use technology to transform medical care for rare diseases. One interesting pilot underway is exploring the idea of the patient having a Rare Disease Passport that will allow patients’ medical information to be more easily tracked. Such a passport would hopefully reduce the average number of doctors a patient sees before being properly diagnosed.
Collaboration and pooling of information were also the themes stressed by Dr. Ruediger Krech, Director, Universal Health Coverage and Health Systems, World Health Organisation and Mr. Martin Seychell, Deputy Director-General for Health and Food Safety, DG SANTE, European Commission, who provided information about the programs underway and the need for better ways to diagnose and treat rare disease patients that are sustainable.
Its not Just About Treatment
In addition to diagnosis and treatment, there are still many other societal changes that need to be discussed to help rare disease families. Addressing those changes was Mr. Robert Hejdenberg, Chief Executive Officer of the Ågrenska Foundation. Hejdenberg noted there needs to be more discussion about the ‘Big 5’ (healthcare, social care, school, insurance, and labor) that dramatically impact rare disease families. Hejdenberg stated that to keep track of the big 5 entities, families must communicate with 40 to 120 people. And those 40 to 120 people do not talk to each other, so the families have to repeat their story dozens, if not hundreds, of times. That is another aspect of the health care system that needs to change. Hejdenberg pointed out that change in the system will be challenging but if you want rare disease families to contribute to society instead of just reacting to the system, the big 5 entities need to be addressed when talking about leaving no one behind.
Collaborations in the United States
Representing the United Sates’ rare disease community at the meeting wasDr. Marshall Summar, Director, Rare Disease Institute at Children’s National, Washington, D.C. and Chairman of Board of Directors of the National Organization for Rare Disorders (NORD). Summar provided a summary some of the interesting breakthroughs being done in the United States and one of them is that doctors are now understanding that to diagnose and treat rare diseases, there needs to be a major shift in how those patients are managed. Summar noted that we need to listen more closely to patients with rare diseases and the current infrastructures generally do not support that concept. Also, most rare diseases are multifaceted conditions. Numerous specialists are needed and again, the current infrastructures are not designed for that type of care. That is the bad news. The good news is that efforts are in place to change those perceptions. There are also a number of programs being developed that can expedite clinical advancements. Summar talked about the Rare Disease Clinical Research Networks led by the NIH and the patient registries program led by NORD as 2 programs that are helping patients and researchers work together more efficiently and effectively.
The NGO Committee for Rare Diseases was initiated by the Agrenska Foundation and EURORDIS, with the later integration of Rare Diseases International to bring greater political recognition towards the challenges facing the rare disease community at the global level.