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Mission Statement
Wilhelm Foundation’s vision is that all the Undiagnosed diseases should be solved which means that all children and adults who live with Undiagnosed diseases should get a diagnosis. Wilhelm Foundation mission is that people with Undiagnosed diseases should be evaluated with the latest diagnostics method as of today Whole Genome Sequencing (WGS) trio, RNA and Long reads.
About This Cause
It is estimated that there are around 10 000 rare disorders affecting hundreds of millions of individuals throughout the world. Many of these diseases have not yet been described, and most of the people afflicted with a rare disorder remain undiagnosed. The WF’s mission is to support children and adults with undiagnosed diseases (UD) to ensure they receive a correct diagnosis as rapidly as possible. Patients with UD include those who have not been evaluated by the appropriate specialist, those with previously undiscovered conditions, and those who have been misdiagnosed. For all these individuals, a delayed diagnosis could lead to irreversible, even life-threatening consequences, including death. Patients with UD and their families are often left behind by health care systems, government agencies, schools, friends, and their own relatives. They are alone with mysterious diseases. WF’s work is inspired by the universally lonely and desperate situation -- regardless of income, status or experience -- facing children and families with UD around the world, who seek answers for survival as medical experts struggle to find answers and loved ones’ health deteriorates. WF aims to do whatever we can to help these families and end their diagnostic journeys, through collaboration with diagnostic specialists and researchers, patient organizations and stakeholders from around the world. To do this, WF has arranged a recurring global congress, convening the best diagnostic teams from around the world and encouraging them to collaborate. The first International Conference on Rare and Undiagnosed Diseases (ICRUD) took place in Rome, Italy in 2014. It was a collaboration between Dir William Gahl, Bethesda UDP, NIH USA and Dir Domenica Taruscio, the National Centre for Rare Diseases Superiore di Sanità (ISS) Italy and WF. Since then, WF have co-hosted eleven ICRUDs in partnership with Dr. Gahl. and a local host. Today, ICRUD participants -- including specialist geneticists, neurologists, researchers and patient organizations -- hail from five continents. ICRUDs also played a key role in the founding of the Undiagnosed Diseases Network International (UDNI), in partnership with Dr. Gahl, Dr. Domenica Taruscio, Director of the National Centre for Rare Diseases Superiore di Sanità (ISS) in Italy, WF and others, as well as in the creation of many other international collaborations focused on addressing UD. ICRUD participants are invited and sponsored by the planning committee (which includes WF, Dr. Gahl, Dr. Taruscio, the local host and previous two conferences’ local hosts). The following is a list of ICRUDs to date: 2014 Italy - ISS, Rome 2015 Hungary - Budapest 2016 Austria - C-E-M-M, Vienna 2016 Japan - Tokyo 2017 Sweden - Karolinska Institute, Nobel Forum, Stockholm 2018 Italy - Telethon, Pozzuoli 2019 India - New Delhi 2020 Netherlands - Radboud Universitair Medisch Centrum, Nijmegen 2021 USA - Mayo Clinic. Virtual conference due to COVID-19. 2022 Italy – Turin Hybrid conference due to COVID-19. 2022 Austria – Vienna Hybrid conference. Today, the WF’s work centers primarily on growing the UDNI, including its working groups aimed at enhancing UD diagnostic capacity. WF’s founders are involved in UDNI working groups focused on programming, communication, membership, developing countries, genetic counseling, data-sharing and patient engagement. They also played a significant role in recently standing up a diagnostic working group, which will review cases of UD patients who have not been diagnosed through domestic UD programs. In Sweden WF’s activities include Diagnostic research together with Ann Nordgren, Professor, Karolinska-UDP, Karolinska Institute (KI) and Angelica Delgado-Vega Researcher Karolinska-UDP KI, leading a support group for parents of children with UD, as well as hosting family camps for children with UD and their siblings, parent weekends with presentations given by leading experts in fields related to the Undiagnosed and giving out Silver-Linings to undiagnosed children in Sweden. Undiagnosed Day/Diagnostic Hackathon WF hosted the first virtual Undiagnosed Day to raise awareness about UD in collaboration with UDNI members 2022 April 29 and stakeholders from all five continents. 2023 WF will arrange Undiagnosed Day with a Diagnostic hackathon. It’s important to know that more than 50 % will still be undiagnosed even when everything that is available today is done. WF can’t accept that; why WF must do something more - something new and hopefully it will lead to something. Undiagnosed Day will spread awareness about UD and genetic evaluations to families with undiagnosed diseases and healthcare providers about Next Generations Sequencing. It will be in person, but parts will be streamed internationally too. Champion Initiative This situation is exacerbated in developing nations due to resource limitations. Specifically, diagnoses are impeded by a paucity of trained physicians, caregivers, investigators, genetic sequencing and analytical capability, rare and undiagnosed disease expertise, and diagnostic technical capacity. Collaborations with international experts can ameliorate some aspects of this problem, but financial support to catalyze enduring solutions is a limiting factor in poorly resourced countries. There are several components involved, including medical expertise, some governmental or societal infrastructure, a suitable patient population and advocacy organization, international collaborations, and both financial and personnel resources. However, the most crucial driver for building a UDP in a developing nation is a local Champion, who can bring all the critical components together and lead the diagnostic enterprise. The Champions Initiative will identify and support those Champions, starting with 4 exemplary individuals, and then expanding based upon the model success stories of those 4 Champions. Champion Initiative aims to advance diagnosis and care for undiagnosed individuals in low- and middle-income countries. Background WF was founded by Mikk and Helene Cederroth, the parents of three children -- Wilhelm (1983-1999), Hugo (1991-2002) and Emma (1994-2000) -- with a UD. At the time, this UD was not believed to be genetic or fatal. In 1999, at age 16, four years after a dementia diagnosis and following visits to hospitals around the world including Johns Hopkins Hospital in the United States and Great Ormond Street Hospital in the United Kingdom, Wilhelm passed away with an unsolved UD. “Our childrens’ love, joy of life, and wisdom inspired us as parents to found WF that same year, with the mission to help children around the world with UD to get a diagnosis. Since losing Emma in 2000 and Hugo in 2002, at ages six and ten, respectively -- the loss of our three beloved children in three years -- we have dedicated ourselves to helping others impacted by UD.” Leadership and Board Helene Cederroth, Founder and President Wilhelm Foundation, Co-founder and Board Member of UDNI, Co-founder and Board Member of UDNF, Member of CETF SolveRD. Invited to speak at both domestic and international convenings, hosted by organizations including the Mayo Clinic, ICORD and the Keystone Symposia. She has also served as a co-author of impactful publications in the UD space, including Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patients need. Molecular Genetics and Metabolism 2015, EURORDIS International Joint Recommendations to Address Undiagnosed Day Specific Needs of Undiagnosed Rare Disease Patients 2016, The Case for open science: rare diseases JAMIA Open 2020, Undiagnosed Diseases Network International: Five years and more! Molecular Genetics and Metabolism 2020 and A call for global action for rare diseases in Africa. Nature Genetics 2020 Mikk Cederroth, MSE, Founder and CEO Wilhelm Foundation, CTO Qimtek Jenny Jacobsson, registered psychotherapist with expertise in working with family members regarding disabilities and significant experience in UD Tina Cangemark, registered nurse, supervisor at God Assistans and mother to a girl with Rett Syndrome and an UD Marie Levedahl, school resource educator with a focus on social inclusion of students with neuro-psychiatric disabilities and significant experience in UD. WF’s staff and board are all volunteers. Commitment to Diversity, Equity and Inclusion WF is committed to advancing diversity, equity and inclusion goals in the UD community, in line with the UN’s 2030 Agenda for Sustainable Development, which calls for leaving no one behind. In addition to being a member of RDI -- a global alliance representing rare disease patients in over 100 countries -- WF leadership have participated in convenings aimed at centering the global UD community, hosted by international bodies including the UN, WHO and ICORD. WF also centers diversity, equity and inclusion in their work and partnerships, including through the Undiagnosed Initiative, a global campaign elevating photos and stories of UD patients around the world in partnership with Photographer Rick Guidotti Positive Exposure. Conclusion Wilhelm Foundation works to strengthen its support for patients with UD and their families from around the world as they seek answers and medical care. Some UD have been called “unsolvable” since even the latest whole genome sequencing technology can’t deliver answers. Solving the “unsolvable” demands broad, global collaboration -- and solving even one UD can change lives, enabling similar patients and families from around the world to achieve diagnosis.