The Global Commission to End the Diagnostic Odyssey for Children, co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases Europe, is a multidisciplinary group of patient advocates, physicians and other experts working together to help solve the complex challenges impacting the rare disease community.

 The Global Commission’s goal is to inspire concerted action and mobilize diverse actors – within and outside the health field – to implement these recommendations and improve the lives of millions of children with rare disease.

 Over the past year, the Global Commission gathered input from patients, families and other expert advisors to gain key insights and develop technology-enabled solutions to shorten the rare disease diagnosis timeline. At a high-level, the recommendations take a three-pronged approach:

  1. Empowering patients and families
  2. Equipping frontline providers
  3. Reimagining the genetic consultation

Linn Parrish, Head of CSR Innovation and Stakeholder Engagement, Corporate Communications and Public Affairs at Takeda, is the driving force of Takeda’s role in the Global Commission. She works to connect the company’s assets and resources with patients and society, as well as to help cultivate ideas and concepts across industries to better serve the rare disease community for the benefit of patients and families facing rare disease.

Can you provide details about the inception of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease?

LINN PARRISH: Shire, now part of Takeda, was the leading biopharmaceutical company in rare diseases, and we asked ourselves ‘What do leaders do?’ We don’t just call ourselves leaders, we do something, we take on significant challenging tasks and we look around and we ask ‘Where could we really make a difference? Where could we take our resources, our expertise, our insight, our relationships, what do we bring to the table as a company and how can we take on something that’s a true challenge for the rare disease community?’

The Global Commission has convened an incredibly unique group of leaders that reflect a wide range of perspectives and experiences from patient organizations, academic/research institutions, hospital and health systems, policy organizations, technology companies and biotechnology companies in order to help empower patients. By joining Takeda, Microsoft and EURORDIS, we hope to continue to deliver patient-centric solutions for rare disease patients and families. Together we strive to achieve better health globally – that’s the mission of the initiative. We’re trying to give patients and families a bigger voice and a better way to dialogue with healthcare providers.

How will the work of the Global Commission benefit rare disease patients and their families? Why is the focus specifically on children with a rare genetic disease?

LP: The Commission really impacts children and their families because half of rare diseases occur in childhood. While there are an estimated 300+ million people living with a rare disease, half of them are children. It takes an average of five years for a child with a rare disease to get an accurate diagnosis, even in countries with sophisticated health systems. Delays in diagnosis are devastating to a child’s – and family’s – health and quality of life. The impact of a delay in diagnosis and treatment for a child is overwhelming so by focusing on children, the Global Commission can impact a large segment of the rare disease community.

Our goal in the Global Commission is to empower patients and families by equipping them with information to work collaboratively with their doctors to ask the right questions and get the answers they need.

The Global Commission recently published its Year One Report, with recommendations for accelerating the time to diagnosis. Can you share a high-level overview of that report and tell us some specifics about some of the recommendations?

LP: The Year One Report provides recommendations that can transform the lives of children with a rare disease and those who care for them. The recommendations include:

  • Empowering patients and families by creating opportunities to develop tools for caregivers to connect seemingly unrelated symptoms, inquire about additional testing and work together with physicians to achieve a correct diagnosis.
  • Equipping frontline physicians with the knowledge and tools to quickly and effectively identify patients who may have a rare disease and taking appropriate action using solutions such as machine learning technology, expert-level guidance and genetic testing opportunities.
  • Reimagining the genetic consultation by identifying innovative ways to enable medical geneticists to see priority patients more quickly, such as standardizing reporting methods and utilizing telemedicine for increased access to more patients.

Overall, we’re trying to drive wide scale or broad awareness. The Global Commission is more than a one-year initiative. The members of the Global Commission are rare disease champions and are committed to making sure these recommendations spark global change across the rare disease field to improve the lives of children and impact health systems more broadly.

We know that we want to ensure that we support the whole rare disease community, so that’s a guiding principle. We want to ensure that we continue to do that, and we want to do an excellent job of disseminating the findings of the Global Commission so that there’s a lot of awareness amongst communities that can do something about this.

To help solve the complex challenges that surround rare diseases, the Global Commission is comprised of leaders from patient organization groups, academic/research institutions, hospital and health systems, policy organizations, technology companies and biotechnology companies. The Global Commission also welcomes input from patients, their families and other expert advisors.

Mike Porath, Founder and CEO, The Mighty, Board Member, Dup15q Alliance is a member of the commission and brings a unique perspective and experience to the Global Commission.

Based on your family’s diagnostic journey, can you share how you believe the Commission is empowering/will empower patients and families?

MIKE PORATH: It took us more than two years to get my daughter’s diagnosis. Looking back, I didn’t know what questions to ask. The Commission has provided very clear guidance for parents who are struggling to get answers, just like my wife and I were. What questions should you be asking your doctors? When should you ask for a genetic test? What symptoms and interventions should you be documenting? We now have a much clearer roadmap that parents and families can follow that will likely result in getting a diagnosis much faster.

Can you talk about the power of information sharing across the rare disease patient community and how open communication can potentially lead to earlier diagnosis and treatment?

MP: When your child is struggling in some way and you don’t have a diagnosis, it’s very isolating. It’s natural to keep it all inside. But that’s exactly when you should be reaching out to others. The rare disease community is incredibly supportive. So many of us have lived that journey and we want to help. Communities like ours at The Mighty are filled with people who may have answers to those questions you may be afraid to ask. With rare diseases, the families are often the experts. Seek them out and they will help.

From a patient-family perspective, what are your hopes for the future of the Global Commission?

MP: I am very proud of the work the Commission did in year one. There’s a clear action plan being implemented with promising pilot programs. And yet, our goal to drastically reduce the time to diagnosis is ambitious and we’re not close to reaching it yet. Our suggestions in the report are just the first steps. It’s crucial we get them in the hands of the people who can really implement them: doctors and families, policymakers here and abroad. We have laid out a strategy. Now we have to execute it.

Resources

Rare Disease Organizations

Rare Diseases Clinical Research Network
An initiative of the Office of Rare Diseases Research (ORDR) and National Center for Advancing Translational Sciences (NCATS). The goal is to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.

EURORDIS
A non-governmental patient-driven alliance of patient organizations representing 724 rare disease patient organizations in 64 countries.

National Organization for Rare Disorders
Provides a unified voice for the 30 million people who wake up every day to fight the battle with a rare disease, including parents and caregivers.

Rare Disease Legislative Advocates
A program of the EveryLife Foundation for Rare Diseases designed to support the advocacy of all rare disease patients and organizations.

Genetic Alliance
A nonprofit health advocacy organization that engages individuals, families, and communities to transform health. They create ways to make it easier to find or build solutions in health services and research.

Global Genes
A rare disease patient advocacy organization that aims to build awareness, educate the global community and provide critical connections and resources that equip advocates to become activists for their disease.

Clinical Trials

ClinicalTrials.gov
An online database of publicly and privately supported clinical studies conducted around the world. ClinicalTrials.gov currently lists thousands of studies with locations in all 50 states and in 191 countries.

Takeda Clinical Trials FAQ
Some common questions about clinical trials.

FDA: What Patients Need to Know About Clinical Trials
The US Food and Drug Administration (FDA) provides this site for patients wanting to learn more about clinical trials. Clinical trials are voluntary research studies conducted in people and designed to answer specific questions about the safety or effectiveness of drugs, vaccines, other therapies, or new ways of using existing treatments.

Genetic Testing

Genetics Home Reference
An online resource from the National Institutes of Health. The website provides easy-to-understand information about genetic conditions and a range of topics. You’ll find basic explanations of how genes work and how mutations cause disorders. It also includes current information about genetic testing, gene therapy, and the Human Genome Project.

National Society of Genetic Counselors
Provides a helpful, easy-to-use online directory to help connect physicians, patients, and other genetic counselors. Search by state, city, counselor’s name, institution, work setting, type of specialty, or zip code.

Resources for Families and Caregivers

Rare Share
A unique social hub building communities for patients, families, and healthcare professionals affected by rare disorders.

Caregiver Action Network (CAN)
The nation’s leading family caregiver organization working to improve the quality of life for the more than 90 million Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. CAN (formerly the National Family Caregivers Association) is a nonprofit organization providing education, peer support, and resources to family caregivers across the United States free of charge.

Center for Parent Information & Resources
A central resource of information and products to the community of Parent Training Information Centers and the Community Parent Resource Centers so they can focus their efforts on serving families of children with disabilities.

Family Caregiver Alliance (FCA)
A community-based nonprofit organization that that aims to illuminate the caregivers’ daily challenges to better the lives of caregivers nationally, provide them the assistance they need, and champion their cause through education, services, research and advocacy. FCA offers programs at national, state, and local levels to support and sustain caregivers.

Family Voices
Family Voices aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities. Throughout their national grassroots network, they provide families resources and support to make informed decisions, advocate for improved public and private policies, build partnerships among families and professionals, and serve as a trusted resource on health care.

OurKids
An email list of family of parents, caregivers and others who are working with children with physical and/or mental disabilities and delays.

Parent to Parent USA
Programs offering parent-to-parent support as a core resource for families with children who have a special health care need, disability, or mental health issue. Through a one-to-one “match,” experienced support parents provide emotional support to families and assist them in finding information and resources.

Sibling Support Project
A national program dedicated to the lifelong and ever-changing concerns of the millions of brothers and sisters of people with special health, developmental and mental health concerns.

General Health Resources

Center on Technology & Disability
Designed to increase the capacity of families and providers to advocate for, acquire, and implement effective assistive and instructional technology practices, devices, and services for those who suffer from disabilities.

National Library of Medicine
Provides guidance on how to find reliable information online regarding human genetics.

Patient Advocate Foundation
Provides professional case management services to individuals facing barriers to healthcare access for chronic and disabling disease, medical debt crisis, and employment-related issues at no cost.

 

S48365  05/19