Takeda Pharmaceutical Co. Ltd. · TSE:4502
Takeda Pharmaceutical — Nordic Rare Disease Summit 2021
118 slides from Takeda Pharmaceutical's conference presentation, Apr 12, 2021
Slide 1: Co-host Partners and Endorsers
CO-HOST PARTNERS : wees SBONN @@@ Legemiddelindustri re Sjuldne Diagnoser nw EURORDIS Sasa ae Q @ foreningen ENDORSERS IML fa =a
Slide 2: Timely Diagnosis: Why does it matter?
Timely Diagnosis Why does it matter? A clinical perspective on timely diagnosis Arvid Heiberg Nordic Rare Disease Summit Senior consultant, Prof (em) Dept of medical genetics. Oslo University Hospital, Norway 12 April 2021 – Virtual Conference C-APROM/NO//0863
Slide 3: Disclosures
Disclosures ▪ Participated in meetings in Norway and Europe arranged by various companies in the Rare Disorder field as Takeda/Shire, Sanofi-Genzyme, Alexion, Biomarin, Amicus and others. ▪ No honoraria.
Slide 4: Rare disorders
Rare disorders ▪ Various definitions: ▪ EU 1 in 2000, Denmark 1 in 10 000. ▪ Sweden and Norway 1: 10 000, now switching to EU definition ▪ Estimated to be 7000 different possible genetic diagnoses, in practice 1500? - new entities coming each week ▪ 80% thought to be genetic and more than 50% affect
Slide 5: Rare disorders and severity
Rare disorders and severity ▪ Multisystem disorders affecting many organs and thereby »specialities« ▪ Phenotypically heterogeneous ▪ Responsible for 1/3 of deaths in first year of life ▪ 1/3 of children will not reach age 5 years Wright CF (2018) Nature Reviews ,doi:10.1038/nrg.2017.116
Slide 6: Diagnosis
Diagnosis ▪ Phenotype: Symptoms and signs obtained by medical history and physical examination ▪ Genotype: Obtained by laboratory techniques ▪ Sometimes easy- often difficult, time and procedure- and cost consuming. ▪ »Diagnostic Odyssé« taking many years To what purpose?
Slide 7: What is in an accurate diagnosis
What is in an accurate diagnosis ▪ Etiology: Why did it happen? ▪ Phenotype: What disorder is it-Information? ▪ Prognosis: What is going to happen? ▪ Complications: How to follow and what to be aware of? ▪ Can it be treated/cured? ▪ Will it happen again? - Implications for the extended familiy
Slide 8: Diagnosis
Diagnosis ▪ Wrong diagnosis - sometimes very difficult to remove! ▪ Specter within diagnostic category: genotype- phenotype-correlations ▪ Exclusion of other diagnostic possibilities sometimes usefull
Slide 9: Periods in genetics
Periods in genetics ▪ Monogenic: Search for single genes: Until 2000, and later - Sanger sequencing ▪ Improved chromosome techniques: 1970- ▪ GWAS (Genome Wide Association Screening): 1995-2000 onwards ▪ Genome sequencing: 2010 onwards - various techniques
Slide 10: Genome sequencing
Genome sequencing ▪ From expensive to »cheap« ▪ Removes need for other diagnostic sometimes costly and »unpleasant«time consuming procedures as MRI( anesthesia) or muscle biopsy, serial hospital appointments etc ▪ Diagnostic yield 25-40% - depending on…
Slide 11: Impact on treatments
Impact on treatments ▪ Few, but important treatments p.t: ▪ Gene therapies increasingly promising: SMA (Nusinersen and Zolgensma) ▪ Blood disorders - (Sickle cell and Thalassemia, Hemophilia) ▪ Eye: Leber (LHON), Retinitis Pigmentosa, ▪ Immune diseases: SCID-ADA ▪ Enzyme replacement therapies
Slide 12: New Born Screening-NBS
New Born Screening-NBS ▪ Norway: increased from 2 to 24 diagnoses (2012), now 26, including SCID- 200 genes in panel ▪ SMA to be added soon - HTA-Health Technology Assessment ▪ Genome sequencing in severely ill newborn children - panel of 800 genes ▪ 700 genes for immunodeficiencies ▪ Great importan
Slide 13: Management guidelines
Management guidelines ▪ How to follow up? ▪ Screening for complications - sometimes very time consuming - Guidelines in Cassidy and Allanson - Syndromes ▪ Chromosome disorders: UNIQUE-www.rare chromosomes.org ▪ Contact with other parents: Local organisations for rare disorders, Facebook groups
Slide 14: Genetic counselling
Genetic counselling ▪ Am I to blame? (drinks, diet, occupation, various cultural health beliefs etc) ▪ Next child? ▪ Prenatal diagnosis? ▪ Extended family? - Inbreeding? ▪ Need for further knowledge - new visit? ▪ Recounselling for children when growing up?
Slide 15: Slide 15
Slide 16: Transition from clinical expertise to laboratory work: a 50 year perspective
Transition from clinical expertice to laboratory work on developmental disorders-A 50 year perspective: A few well defined phenotypes: Cornelia de Lange, Noonan, Prader- Willi and Williams, but no molecular diagnosis A few chromosomal disorders: Down, Turner, Cri du chat, trisomy 13 and 18. Later: A
Slide 17: Breaking Bad News
Breaking Bad News ▪ Simple findings may imply serious prognosis ▪ Timing and setting - gradual process or all in one?
Slide 18: The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease Clifford Goldsmith US Chief Medical Officer at Microsoft @clifgold clifgold C-ANPROM/DK/TAKH/0012
Slide 19: Affected by rare disease, time to diagnose, misdiagnosed
affected by rare disease average time to be diagnosed are initially misdiagnosed
Slide 20: Background: Forming the Global Commission
Background: Forming the Global Commission There are more than 6,000 Today, it takes an average of In 2018, Takeda, Microsoft and Our goal is to inspire known rare diseases worldwide. 5 years to get an accurate EURORDIS-Rare Diseases concerted action and An estimated 300 million rare disease diagnosi
Slide 21: The Global Commission mission
The Global Commission is committed to harnessing the power of technology and empowering families to accelerate the time to diagnose a child with a rare disease. Global Commission Co-chairs
Slide 22: Global Commission Report Recommendations
Global Commission Report Recommendations GLOBAL POLICY RECOMMENDATIONS
Slide 23: Where We Are Headed
Where We Are Headed The Global Commission aims to establish a clear path to a timely, accurate diagnosis for children around the world 23
Slide 24: Global Commission Key Priorities
Global Commission Key Priorities The Global Commission’s mission is to harness the power of technology and advances in genetics to accelerate the time to diagnose a rare disease. The Global Commission also focuses on two supporting areas—family/caregiver empowerment and policy/advocacy—to ensure suc
Slide 25: Access to comprehensive healthcare and equity
• Access to comprehensive healthcare is important for promoting and maintaining health and preventing and managing diseases. • However, in rural settings and for patients with a rare disease, the issues related to quality healthcare access are greater and more daunting. • Challenges faced by patient
Slide 26: Global Commission and Technology Pilots
Global Commission and Technology Pilots
Slide 27: Global Commission Report Early Successes
Global Commission Report Early Successes EARLY SUCCESSES EARLY SUCCESSES EARLY SUCCESSES Initial pilot launch Dx29 correctly predicted The average wait time for in San Diego, U.S. diagnoses for 79% of previously patients to see a clinical in early 2021 studied cases. The tool has geneticist is estim
Slide 28: Phase 1: Dx29 for clinicians
Phase 1: Dx29 for clinicians Possible new tests Healthcare for confirmation of professional results Symptoms input from Genetic information More symptoms based Disease rank for documents, pictures, analysis on previous cases differential diagnosis with etc. filters and comparisons DIAGNOSIS Where is
Slide 29: Global Commission Pilot 2: Genetics Opinion App
Global Commission Pilot 2: Genetics Opinion App VISION Leverage technology and communication tools to create a virtual collaboration platform that remotely connects genetic clinics and primary care physicians in order to rapidly deliver an initial opinion. VALUE PROPOSITION: Faster times to diagnosi
Slide 30: Inspiring Other Pilots: Patient-reported phenotyping
Inspiring Other Pilots (Example): Patient-reported phenotyping as a tool to bridge the inequity gap in rare disease diagnosis Genome-wide sequencing (GWS) has become the best test • OBJECTIVE: Evaluate patient-reported phenotyping as for establishing a diagnosis for rare disease (RD) patients. an ap
Slide 31: Global Commission Patient Empowerment and Awareness Campaign
Global Commission Patient Empowerment and Awareness Campaign
Slide 32: Patient Empowerment and Awareness Campaign
Patient Empowerment and Awareness Campaign Patients, caregivers, and frontline providers often do not suspect that a patient may be suffering from a rare disease, thus extending the diagnostic journey. Repeated visits to the emergency room, consultations with various specialists, and internet search
Slide 33: RareNavigator: What it is
RareNavigator: What it is RareNavigator is an online, interactive guide to help parents and caregivers find the tools, resources and communities they need to get answers about their child’s health and explore the possibility of a rare disease. RareNavigator will generate a customized report with the
Slide 34: Policy & Advocacy
Policy & Advocacy
Slide 35: Global Policy Recommendations
Global Policy Recommendations
Slide 36: The Path Forward
The Path Forward GLOBAL COMMISSION
Slide 37: The Path Forward
The Path Forward The Global Commission will strive to have a far-reaching impact— benefiting not only those living with a rare disease and their caregivers, but ultimately for all patients. The technological, scientific, and behavioral changes the Global Commission hopes to generate are exactly what
Slide 38: Website and email
Website: https://www.globalrarediseasecommission.com/ Email: questions@globalrarediseasecommission.com
Slide 39: Thank you!
Thank you! Clifford Goldsmith US Chief Medical Officer at Microsoft @clifgold clifgold
Slide 40: Appendix
Appendix
Slide 41: The Global Commission is Conducting Three Pilots
The Global Commission is Conducting Three Pilots Multifactorial machine Genetics Patient Empowerment learning to recognize Opinion App and Awareness Pilot symptom patterns Campaign
Slide 42: Cross-Section of Leaders to Find Solutions
Cross-Section of Leaders to Find Solutions Yann Le Cam Wolfram Nothaft Gregory Moore Moeen AlSayed Gareth Baynam Kym Boycott Pamela Gavin Roberto Giugliani Kevin Huang Derralynn Hughes Maryam Mohd. Dau-Ming Niu Anne O’Donnell-Luria Mike Porath Richard Scott Marshall Summer Durhane Wong-Rieger Fatima
Slide 43: Access to comprehensive healthcare and equity
• Access to comprehensive healthcare is important for promoting and maintaining health and preventing and managing diseases. • However, in rural settings and for patients with a rare disease, the issues related to quality healthcare access are greater and more daunting. • Challenges faced by patient
Slide 44: Phase 1: Dx29 for clinicians
Phase 1: Dx29 for clinicians Possible new tests Healthcare for confirmation of professional results Symptoms input from Genetic information More symptoms based Disease rank for documents, pictures, analysis on previous cases differential diagnosis with etc. filters and comparisons DIAGNOSIS Where is
Slide 45: Global Commission Report Recommendations
Global Commission Report Recommendations OBJECTIVE: Develop tools that empower OBJECTIVE: Equip frontline providers with OBJECTIVE: Develop innovative ways to families and caregivers to become more the knowledge and tools to quickly and enable medical geneticists to see priority proactive in getting
Slide 46: Background: Forming the Global Commission
Background: Forming the Global Commission There are more than 6,000 Today, it takes an average of In 2018, Takeda, Microsoft and Our goal is to inspire known rare diseases worldwide. 5 years to get an accurate EURORDIS-Rare Diseases concerted action and An estimated 300 million rare disease diagnosi
Slide 47: Pilot 2: Genetics Opinion App
Pilot 2: Genetics Opinion App PROBLEM STATEMENT There are several barriers hindering early rare disease diagnoses for children, notably the severe shortage of Clinical Geneticists and Centers. Additionally, HCPs/PCPs lack the right pre-screening tools which is a significant time/cost burden for pati
Slide 48: Genetics Opinion App
Genetics Opinion App Enabling collaboration tool for Primary Care Physicians/Pediatricians/GPs with Specialists GENETICS OPINION APP Solution aims to reduce bottlenecks at Genetics centers by providing opinion via the app App provides an easy and intuitive way to connect pediatricians with rare dise
Slide 49: Visually compelling materials to support surround-sound approach
Visually compelling materials to support surround-sound approach
Slide 50: Innovative technologies and the future of diagnostics
Innovative technologies and the future of diagnostics Helena Kääriäinen Finnish Institute for Health and Welfare
Slide 51: Affiliations/Conflict of Interest
• Affiliations/Conflict of Interest • Norio - Centre of Rare Diseases (consultant) • Finnish Institute for Health and Welfare (research professor) • Blueprint Genetics Laboratory (consultant) Helena Kääriäinen 51
Slide 52: Picture: Norio Centre
Picture: Norio Centre Helena Kääriäinen 52
Slide 53: Innovative technologies during my career
Innovative technologies during my career Helena Kääriäinen 53
Slide 54: Innovative technologies during my career
Innovative technologies during my career • Diagnostics based on linkage studies • Detecting known mutations • Sequencing the gene(s) of interest • Next generation sequencing • Genes, gene panels,exomes (= all (known) genes) • Whole genome sequencing • Also areas between genes, copy number variations
Slide 55: What is found in the exome study?
What is found in the exome study? Some 20 000 – 50 000 variants detected; 95% can be ruled out by automatic algorithms 700 – 1000 variants left; Most can be ruled out (nearly) automatically Some 100-200 variants left; These will be judged individually Helena Kääriäinen 55
Slide 56: Classification of variants
Classification of variants • Pathogenic = known to cause the disease • Likely pathogenic = most likely causes the disease • Variant of unknown significance (VUS) = impossible to judge with the present knowledge • Likely benign = most likely harmless • Benign = known to be harmless Helena Kääriäinen
Slide 57: Classification of variants
Classification of variants • Pathogenic = known to cause the disease • Likely pathogenic = most likely causes the disease • Variant of unknown significance (VUS) = impossible to judge with the present knowledge • Likely benign = most likely harmless • Benign = known to be harmless Helena Kääriäinen
Slide 58: VUS-variants are a difficult problem
VUS-variants are a difficult problem • For the laboratory: • to report or not? • For the doctor: • to believe or continue diagnostic work? • For the patient and family: • to react relating to family planning, to inform relatives? Helena Kääriäinen 58
Slide 59: How to overcome VUS-problem?
How to overcome VUS-problem? • Better, detailed referrals to the lab • Regular reporting of such variants to the relevant databases • By the lab? Or by the clinician? • To collect and share more genomic data from population cohorts, biobanks etc. • E.g. “1+ Million Genomes” initiative Helena Kääriäi
Slide 60: Countries that have signed the 1+MG Declaration
@thi Countries that have signed the 1+MG Declaration since 2018 @ Observer countries updated on 03 Decembre 2020 Austria Belgium Bulgaria Croatia Cyprus Czech Republic Estonia Finland Germany Greece Hungary Italy Latvia Lithuania Luxembourg Malta Netherlands Norway Portugal Slovenia Spain Sweden Uni
Slide 61: Whole genome sequencing?
Whole genome sequencing? • Interpreting the results is still very difficult • Whole genome sequencing creates much more data (and also much more variants to judge) • The reference data is still unsufficient Helena Kääriäinen 61
Slide 62: The future of diagnostics
The future of diagnostics • We will know more about normal ? variation • We will understand more about the consequences of different variants • This improves both exome and whole genome diagnostics • The diagnostics will be quicker and cheaper • ”Genome first” –thinking? Helena Kääriäinen 62
Slide 63: Summary
Summary • RD diagnostics have improved in an unprecedented way! • The costs of diagnostics have remained reasonable (when compared with other diagnostic tools). • In spite of this, still about half of the patients who most likely have a genetic RD remain without exact diagnosis. • The future develop
Slide 64: C-ANPROM/FI/RDG/0001
C-ANPROM/FI/RDG/0001
Slide 65: The Importance of Empowerment for Patients, Relatives and Society
THE IMPORTANCE OF EMPOWERMENT FOR PATIENTS, RELATIVES AND SOCIETY Nordic Rare Disease Summit 2021 Terkel Andersen Eurordis – Rare Diseases Europe C-ANPROM/DK/TAKH/0013
Slide 66: What is patient empowerment?
“EURORDIS recommends that the EC and all European countries implement specific mechanisms that empower people living with a rare disease and their carers, in co-creation and co-delivery with organisations representing people living with a rare disease: • Opportunities to foster peer-to-peer support
Slide 67: Patient empowerment
Patient empowerment: Reaffirms autonomy and integrity at individual (micro) and community (macro) level Connects individual and collective experience and action Allows to voice community views and interest with other stakeholders and to influence a policy level A dynamic phenomenon Driver of innovat
Slide 68: Patient empowerment (2)
Patient empowerment (2): Can be a process and an outcome Can be achieved at individual, community and policy level Plays out in the medical realm and outside of it (everyday life). Is liberating and transformative Provides opportunities for value creation for all stakeholders 68
Slide 69: Roots of patient empowerment
Roots of patient empowerment: Often linked to the AIDS activism of the 1980’s: - Strong advocacy groups to fight discrimination, support prevention efforts and work for accelerating research, therapy development and shortening the road to access But other patient communities had already embarked on
Slide 70: High social impact and marginalisation
High social impact and marginalisation Rare diseases are chronic, progressive, degenerative, disabling and frequently life-threatening • Patients are few, geographically scattered and therefore often isolated • Patients are sometimes undiagnosed, misdiagnosed or wait years for a diagnosis • Are some
Slide 71: To regain a level of control
To regain a level of “control” (Empowerment at individual/micro level) Acquire the skills / ability to Achieve insights and knowledge enabling you to manage / ease the impact of illness (physical, emotional and social) and develop coping strategies - obtain sufficient understanding (health literacy)
Slide 72: Mutual support
Mutual support (Empowerment at community/macro level) Develop common resources and structures to - generate collective learning, knowledge and experience sharing - organize and sustain peer to peer support - transform tacit knowledge into shared information (e.g. through surveys) - create adequate s
Slide 73: Awareness raising and advocacy
Awareness raising and advocacy (Empowerment at policy level) Engage with mutually agreed positions and ensure representation to - cocreate solutions, “asks” and policies - mobilize resources, e.g. for campaigning or research - speak with a common voice, for advocacy and partnering: Influence priorit
Slide 74: Nothing about me without me
Nothing about me without me • Patient empowerment • Community building & networking • Capacity building • Patient engagement • In research • In therapy development • In health care • In social care • Patient advocacy and representation • Influencing priorities • Patient-perspective included in polic
Slide 75: Value creation through patient empowerment
Value creation through patient empowerment – dynamic examples: IIndividual/micro level: Joining a group of RareConnect.org to learn about ways to manage the disease -> helps establish a knowledge base Community/macro level: Setting up Community Advisory Boards to agree patient relevant outcomes in c
Slide 76: Rare Disease Day February 2020
rredizeaseday.org «== (47, os RARE RARE DISEASE DAY° 29 FEBRUARY 2020 wees, «e EURORDIS.ORG \ EURORDIS
Slide 77: #RareDiseaseDay
#RareDiseaseDay rarediseaseday.org RARE |S ASTRONG RARE DISEASE DAY° 29 FEBRUARY 2020 ie ee EURORDIS.ORG We EuRORDIS
Slide 78: Rare Disease Day February 2020
RARE DISEASE DAY° 29 FEBRUARY 2020 EURORDIS.ORG #RareDiseaseDay rarediseaseday.org RARE IS | PROUD ie ee We EuRORDIS
Slide 79: Experiences of Web-based adaptation training for people with rare diseases
Experiences of Web-based adaptation training for people with rare diseases Sinikka Hiekkala, Adj. Prof. in Neurorehabilitation, PhD in Neuroscience, MSc in Health Science, PT Research Director in the Finnish Association of People with Physical Disabilities ANPROM/DK/TAKH/0019
Slide 80: Web-based adaptation training for the target groups of the associations
Web-based adaptation training for the target groups of the associations (2018-2021) The purpose of the project was to develop and research web-based adaptation training, which was carried out by 12 organizations in collaboration Leading: The Finnish Associaton of People with Physical Disabilities (F
Slide 81: The aim of the courses was to produce well-being
The aim of the courses was to produce well-being for the people involved • Web-based group meetings • 2 supervisors and a peer • Courses aimed at people with a longterm disease or disability • Implementation of courses across diagnostic boundaries • Course duration approx. 2 months. The courses have
Slide 82: Group meetings and course platform
Group meetings Applying for courses through the project website Participant-specific conversation with the supervisor Skype for Business and Teams for group meetings Course platform hyväkysymys.fi –service for tasks and chat (hyvakysymys.fi/en/) Goal Attainment Scale (GAS)
Slide 83: Service design produced 4 themes
Service design produced 4 themes – 12 courses were performed Rohkeasti mä! (Boldly me!) • 2 courses Tukea työelämässä jaksamiseen (Support for coping in working life) • 4 courses Keinoja omaan hyvinvointiin (Ways to your own well-being) • 3 courses Harvinaisena joukossa (Rare among) • 3 courses
Slide 84: Participant testimonial: woman, rare disease
Woman, 43 years, rare disease I was already looking Peer support can be hard forward to hearing from to find, as usually no one others and being able to has heard of my disease laugh together at even difficult things The implementation method suited me well, because sometimes it is difficult to leav
Slide 85: Participant testimonial: man, rare disease
Man, 50 years, rare disease Yes, it strangely makes it easier for someone else to know this little concern Yes, this moment goes before the blocks are back in the box, but yes it put its own values in order when you heard the stories of the other course participants and learned from their experienc
Slide 86: Participant testimonial: woman, 75 years
Woman, 75 years, rare disease Using Skype is not a barrier I was able to attend to participation. It’s like a the course from phone from which you can home - wool socks click another face to appear on foot and a if you want comfortable seat on my own couch The teachers were My physical condition abs
Slide 87: Outcomes
Outcomes PROMIS®, Patient-Reported Outcomes Measurement Information System (healthmeasures.net): PROMIS Global Health – physical and mental health PROMIS Sleep disturbances short form 4a PROMIS Anxiety short form 4a PROMIS Depression short for 4a Rosenberg Self-Esteem Scale (Rosenberg 1965) Goal Att
Slide 88: Participants in all 12 courses
Participants in all 12 courses 65 signed consents (9 men) Outcomes from 44 participants (5 men) Mean age 47.1 (SD 14.1, range 23-75) The goals had been achieved on average at the target level: Mean GAS T-Score 49.7, range 31-79 Pietilä et al. Etäsopeutumisvalmennuksella myönteisiä vaikutuksia koettu
Slide 89: Changes in welfare
Changes in welfare There were positive changes in the overall experience of health Physical, p = 0.016, n = 37 and Mental, p = 0.025, n = 39, Anxiety, p = 0.018, n = 39, Depression, p <0.001, n = 39 and Self-esteem, p = 0.002, n = 39 All of the positive changes were maintained for the follow-up. The
Slide 90: Summary of Web-based adaptation training
Summary of Web-based adaptation training Service design produced 4 thematic web-based adaptation training Patients with rare diseases had good experiences about the course ”Rare among” Helped all participants to achvieve personal goals Improved physical and mental health and self-esteem New products
Slide 91: Involved in creating an equal and accessible Finland
Involved in creating an equal and accessible Finland
Slide 92: Rare Diseases Denmark: our Helpline in a societal perspective
Rare Diseases Denmark: our Helpline in a societal perspective Birthe Byskov Holm, President, Rare Diseases Denmark
Slide 93: Why does Rare Diseases Denmark host a helpline?
WHY DOES RARE DISEASES DENMARK HOST A HELPLINE? • Because it is much needed
Slide 94: Why did we take the matter into our own hands?
WHY DID WE TAKE THE MATTER INTO OUR OWN HANDS? • Because it is an obvious solution
Slide 95: What does Helpline do?
WHAT DOES HELPLINE DO? • Provides information, coping support and individual counseling • Empowerment: • Acknowledgement as an important factor
Slide 96: How about volume?
HOW ABOUT VOLUME? • Initial dimension: 200 – 400 inquiries per year • Actual dimension: 2.187 inquiries the first four years – 3.202 contacts • 418 different rare diagnosis • At least 75 pct. satisfied or very satisfied, at leas 75 pct. empowered • Evaluation 2020/2021: https://sjaeldnediagnoser.dk/
Slide 97: What makes Helpline special?
WHAT MAKES HELPLINE SPECIAL? • Help-to-self-help • Multi disciplinarity, cross sectoral • Builds up capacity
Slide 98: How does Helpline build up capacity?
HOW DOES HELPLINE BUILD UP CAPACITY? • Helpline supports the empowerment of rare people • Helpline built bridges • Helpline create and share new documentation
Slide 99: In conclusion
IN CONCLUSION • Helpline is a recommendation of the Danish National Strategy of Rare Diseases • Through Helpline, Rare Diseases Denmark provides a service of societal importance • Helpline is much needed – wish us luck!
Slide 100: Takeda pays lecturer fees
Takeda pays, in accordance with LER, lecturer fees C-ANPROM/SE/RDG/0004 apr-21
Slide 101: The Undiagnosed diseases
The Undiagnosed diseases An Undiagnosed disease is like a nightmare
Slide 102: The Undiagnosed diseases
The Undiagnosed diseases No tests or exams match any disease that is known today
Slide 103: Why a diagnosis is important
Why a diagnosis is important • To understand the disease • Know if a treatment works or makes it worse • Have a prognosis • Know if it’s a genetic disease
Slide 104: Without a diagnosis relatives often mistrust the family
Without a diagnosis relatives, friends, caregivers often mistrust the family
Slide 105: Late diagnosis could lead to irreversible consequences
In the worst-case scenario, a late diagnosis could lead to irreversible consequences and even be life threatening
Slide 106: The odyssey to reach an accurate diagnosis can take years
The odyssey to reach an accurate diagnosis can take years
Slide 107: Undiagnosed diseases are divided into 3 groups
Undiagnosed diseases are divided into 3 groups: 1. Not yet diagnosed – but should be since they suffer from a known rare disease 2. Undiagnosed - since the disease is not discovered 3. Misdiagnosed
Slide 108: Patient Journey through diagnosis
° “a 5 “ People began to ask which i Patient Journey eae of he Tani corse hod ell Mies a waiting game, but from...It was a difficult time news orit may be no news. th rough diagnosis you tell a mum to wait si ss aera lee But all of that’s OK and when she’s waited 15 there's help and support years. I
Slide 109: Undiagnosed diseases are all around the globe
Undiagnosed diseases are all around the globe The variants don’t respect national borders. Geneticists and researchers from all different parts of the world must collaborate to solve the undiagnosed diseases.
Slide 110: Undiagnosed patients photo exhibition and form
Slide 111: International Conferences on Undiagnosed Diseases
International Conferences on Undiagnosed Diseases The first, Rome 2014 The fourth, Tokyo 2016 The seventh, New Delhi 2019 Thanks to Dr Taruscio Thanks to Prof Kosaki Thanks to Prof Puri The second, Budapest 2015 The fifth, Stockholm 2017 The eighth, Nijmegen 2020 Thanks to Prof Melegh Thanks to Prof
Slide 112: Mission to share and collaborate
Mission to share and collaborate udninternational.org
Slide 113: UDNI Patient Engagement Group
UDNI Patient Engagement Group
Slide 114: Slide 114
Slide 115: your MN BY &
your MN BY & N » : S Visit patients he. all 4 \ 1 ee *
Slide 116: UN Sustainable Development Goals 2030: Leave no one behind
UN’s the Sustainable Development Goals 2030 Leave no one behind
Slide 117: The undiagnosed patients need all of us!
The undiagnosed patients need all of us!
Slide 118: Thank you for listening!
Thank you for listening! Helene Cederroth Willefonden Wilhelm Foundation helene@wilhelmfoundation.org Helene Cederroth helene@wilhelmfoundation.se willefonden.se
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