Summer 2021 RARE and Equitable
Diversity, equity and inclusion
RARE and Equitable our 20th edition will be hitting your inbox next week. Diversity, equity and inclusion, three big words which are loaded with expectations and this edition explores what they really mean in the context of rare disease. The rare disease community know only too well what it is like to live on the outside. To feel isolated or marginalised. Change does not happen over night or with one grand gesture, it happens one action, one step at a time and with our collective voices one day things might just be equitable.
We have had the privilege of teaming up with Travere for this edition, who we previously teamed up with on the RARE Nephrology. edition. We knew this would be the perfect synergy as Travere are a founding supporter of the Rare Disease Diversity Coalition and are making great strides to address inequities across rare disease.
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RARE and Equitable our 20th edition is LIVE next week! #Diversity, #equity and #inclusion, three big words which are loaded with expectations. This edition explores what they really mean in the context of rare disease. #culture #community #diversitymatters #representationmatters
RARE and Equitable tracker links
“As a wider society we must recognise the need to acknowledge and find solutions to the bias and inequities that exist, and this too relates to our already marginalised rare disease community, where the challenges for some living with rare are all the greater.” Nicola Miller
The ties that bind
Extraordinary circumstances can lead to extraordinary actions. There is no better word than extraordinary to sum up the legacy of two wonderful, yet short, lives— the lives of Hayden and Cameron Lord and the work of their courageous parents. This summer our RARE Inspiration is the remarkable Blyth Lord and her family who are making sure that palliative care is given the importance it deserves in rare disease
Putting the community and its values first
Founded in 1989 and located in the middle of a cornfield in the county of Lancaster, USA, the Clinic for Special Children is home to the perfect blend of traditional values, stemming from the Amish and Mennonite communities it serves, and cutting-edge science and medicine. They have evolved with their community’s values as a guiding principle in their practice and are proving remarkable things are possible when we put patients at the heart of clinical care
Strength in numbers
The Sickle Cell Disease Association of America (SCDAA) is an incredible example of the power of collaboration—nurturing local communities and individuals to elevate their voices on a much bigger stage. The president and CEO of SCDAA, Beverley Francis-Gibson, talks to RARE Revolution about some of the amazing projects and initiatives they operate to support the SCD community, increase public consciousness and raise money for research in the hope of a cure
Digital Spotlight advert – See list from Daisy
RARE Diversity, Equality and Inclusion
Diversity, Equality and Inclusion, DEI. Three big words which are loaded with expectations, but what does it really mean in the context of rare disease? Editor, Nicola Miller, sets the scene
RARE Diversity, Equality and Inclusion
Seizing the moment for change—The Rare Disease Diversity Coalition takes action to reduce disparities in rare disease
Rare disease does not discriminate, but the challenges of living with one are not equal among people. A person and their family’s social determinants of health significantly affect their health outcomes. Things that so many people take for granted like access to nutritious food, clean air and water, education, employment, transportation, health insurance, and a safe social and physical environment can mean the difference between effectively managing a disease or being left behind. It can mean struggling to live a meaningful life, and it can even mean an early death.
Seizing the moment for change—The Rare Disease Diversity Coalition takes action to reduce disparities in rare disease
How are rare disease biotechs/industry addressing diversity & inclusion?
Here at RARE Revolution we are passionate about the power of collaboration. The challenges we face in healthcare and rare disease are simply too great to solve alone. One such challenge is how biotechs and industry operating within rare disease can address the challenges of diversity and inclusion, creating an ecosystem fit for the 21st century. We recognise that to drive change we need strong leadership from the top and we were honoured to host a discussion with two organisations who are working hard to set the new industry norm for diversity and inclusion. Nicola Miller in discussion with Noah Rosenberg, chief medical officer at Travere Therapeutics, Francis deSouza, CEO of Illumina, Eve Dryer, vice president of patient advocacy and Sika Dunyoh, associate director of patient advocacy, Travere Therapeutics
Why language matters
Beverley Francis-Gibson, Sickle Cell Disease Association of America and Joaquin Baca, American Medical Association, both from rare families, are dedicated to keeping diversity, inclusion and equity at the heart of what they and their organisations do. A key part of meeting this challenge is understanding the importance of culturally sensitive and aware communications
Bringing bio-diversity and equity firmly up the industry agenda
The BIOEquality Agenda is a national collaborative effort from within the biotechnology sector that aims to counteract systemic inequality, injustice, and unfair treatment of underserved communities within healthcare and science. Historically biotech organisations have had a bad reputation for lack of diversity both in their activities and within their organisational structures, but spearheaded by the membership organisation BIO, the BIOEquality initiative is seeking to address this from the top. Off the back of a busy week at BIO Digital 2021, we caught up with Dr Cartier Esham, chief scientific officer at BIO, to learn more
https://bit.ly/DEI-Representation The importance of diversity in medical literature, scientific studies and healthcare employment
Amplifying the voices of patient advocacy in addressing diversity
The role and, more importantly, the significance of patient advocacy has become increasingly elevated in RARE organisations in recent years. It is becoming more and more pivotal across all functions within charities, research and pharmaceutical companies, with the patient voice driving and setting priorities for research and clinical trials. And while it is key that the patient voice is heard, it is equally important that that voice represents all its members and communities. RARE Revolution spoke to Lauren Lee from NephCure and Tammy Boyd of the Black Women’s Health Imperative to learn more about how they are reaching out to and representing their diverse communities
Equity in clinical trials—overcoming the hurdles to enable access for all
Clinical trials are an essential part of bringing new therapies to the market in the hope of improving lives. Recruitment and retention are key to the efficacy of a trial and are crucial to its success. With a focus on patient-centricity, MRN offer flexibility in their approach to supporting clinical research visits to improve the patient experience, and are steadfast in their commitment to delivering the complex efficiently for all stakeholders. We caught up with their marketing manager, Zara Broadfield, to learn more.
Diversity and equity of care
Jessica Zeigler speaks about her personal experience of living with rare diseases, which gives a glimpse into her daily life and the challenges faced. This is followed by insights from Jo Goodman who has extensive experience supporting rare disease patients (and their families) participating in clinical studies, and the difference patient concierge support can make
A leap of faith: crossing borders for care
Born in Beijing, China, Fan Ding was the pride and joy of her parents at a time when China had a strict one child policy. Aged just two years old, Fan was diagnosed with Gaucher disease type 1. With no treatment or therapy on offer, Fan’s parents were told she was unlikely to live past the age of ten. This news sent them on a voyage of a lifetime in the quest for treatment and a decade of separation
Diversity, access, and inclusion: How IndoUSrare is addressing these grand challenges by building collaborative bridges for stakeholders of rare diseases between the western world and the Indian subcontinent
Rare diseases individually have low prevalence in the population, but collectively pose a significant health burden. Currently, there are over 7,000 known rare diseases which are estimated to affect over 350 million people worldwide. Most of these diseases are genetic in origin and over half affect children, 30 per cent of whom do not live to see their fifth birthday. The low number of patients results in a paucity of interest and funding in research on rare diseases and orphan therapies. Over 95 per cent of known rare diseases do not have an approved treatment. Yet, less than 10 per cent of the world’s clinical trials target rare diseases (Sakate et al, 2018).
Speaking the same language: why linguistic equity is key to making genomic medicine accessible
Genomic information has enormous potential in allowing us to better understand human disease. It can help describe the genetic causes of health conditions, tailor treatment options, and identify someone’s chance of developing diseases later in life. The accuracy of genomic sequencing (GS; exome and genome sequencing) technology is quickly advancing, but there are still many ethical, legal, and social considerations to ensure equitable access to care.
@nicola here is the link to use under their website link https://bit.ly/3iHXmNG
With the evolution of science, the Barth syndrome community have had to learn to rethink some of what they know about the disease. Historically considered to be a disease that affected only boys/men, often referred to as ‘Barth boys’, the scientific community are now learning to embrace the ‘Barth girls’ who may be rare but are still very much part of their herd
Living with a rare disease and accessing medical treatment as both gay and Christian
Beverly shares her story of growing up as a gay woman living with a rare disease in a religious community where she feels her sexuality has impacted, and continues to impact, her relationship with her family and medical professionals to whom she predominantly does not feel safe to disclose her sexual orientation. Beverly hopes to see a cultural shift in the way the Christian and medical community in the US views LGBTQIA+ people with more awareness and understanding of intersectionality and the idea that “people are not just one label”
The role of gender in rare disease: are the voices of mothers (and women) being heard?
Rare mum, Stephanie Ernst-Milner talks about how gender bias in the healthcare system can have a lasting impact on individuals, and can hinder a timely diagnosis for rare disease families. Something which she has observed first had through her own personal experience with raising rare twins
We are not all… “young and healthy”. Age bias causing delays in rare disease diagnoses
When we visit our healthcare professionals, we trust them to help us, provide answers for our symptoms and ultimately give a diagnosis. There is a level of expectation we have from these medical experts that they will listen to our health concerns and take them seriously. But what happens when they don’t? What happens when you are told your symptoms are just stress-related, exaggerated or even psychological?
“It’s not how old you are. It’s how you are old.”
With many rare conditions requiring a lifetime of treatment, it is inevitable that this will present issues around continuation of care and how people are treated at different ages and stages of life. Richard Gelati is a veteran of rare disease and a favourite at RARE Revolution with his insightful and humorous column #RareRamblings!
Richard is taking a break from his column in this edition to talk to us about his journey through the healthcare system and about his belief in the importance of looking to the person beyond the disease
CDG Digital spotlight – Daisy can give you the tracker links for these
Addressing the complexities of faith and culture in rare disease
Science and religion are often seen as opposing fields, but the truth is, it is rarely this clear-cut and usually far more intricate. Such assumptions can be detrimental and cause an inequality in access to healthcare, particularly among ethnic minorities. Asya Choudry, of the charity Breaking Down Barriers, talks to RARE Revolution about the importance of increased understanding from both patients and the medical profession to begin to address, and put an end to, these inequalities
The effects of COVID-19 on the disability employment gap
The rise in home working and the increase in online recruitment was predicted to improve the number of disabled people in employment and further reduce the disability employment gap, but has this happened?
Artificial intelligence in ethnic minority communities: Neither good science nor medically ethical?
In 1818 Mary Shelley wrote Frankenstein, a cautionary tale of the ethical limits of science. In our day, artificial intelligence (AI) is held up as a friend of mankind. Its machine learning and algorithmic backbone can discover the sources of disease and speed up diagnoses of rare diseases. Both create benefits to humankind.
However, is “science” a mask for deepening societal inequality? I believe it is.
Jeans for Genes: A look back on the year that was 2020, and all that’s new in the months ahead
The Jeans for Genes (J4G) campaign raises awareness of the daily challenges faced by those living with a genetic disorder and raises money to fund projects that make a tangible difference to the lives of those affected.
As the 26th annual campaign begins in earnest, we look behind the scenes to find out the ‘new fit’ that this campaign is wearing, after the extraordinary challenges of 2020.
Celebrating 30 years—Happy Birthday CGD Society!
This year the CGD Society are celebrating 30 years of supporting families and individuals affected by chronic granulomatous disorder (CGD). Chronic granulomatous disorder is a life-threatening and life-limiting genetic condition that prevents the immune system fighting off certain infections.
All change as Genetic Disorders UK become Gene People
Many organisations have refocused on their core mission during the pandemic and Genetic Disorders UK has been no exception with several changes announced.
The first that Genetic Disorders UK is now Gene People.
@Nicola this is the bitly link for the blog we are signposting to https://bit.ly/3cc1J18
5th World Conference on CDG—a global platform for families and stakeholders
From May 13th to May 16th, the Portuguese Association of Congenital Disorders of Glycosylation and Other Rare Metabolic Diseases (APCDG), together with the CDG & Allies – Professionals and Patient Associations International Research Network (CDG & Allies – PPAIN), held the 5th World Conference on congenital disorders of glycosylation (CDG). The event was hosted virtually by Vanessa Ferreira, president and founder of APCDG and operations team member at the World CDG Organization (WCDGO). “The online option ensures access, equity and inclusion for all participants”, Vanessa explains.
ARDEnt publishes its findings on how the fragile rare disease ecosystem was disproportionately impacted by the COVID-19 pandemic
On 6th May 2021 Action for Rare Disease Empowerment (ARDEnt) published its findings and recommendations in the report ‘Making the Unseen Seen: Rare disease and lessons learned from the COVID-19 pandemic’.
Scientifically speaking book review
The days of scientific work remaining siloed in peer-reviewed papers and journals as special interest only are over.
My Gaucher Expedition
“Having a rare condition is not always easy. It can sometimes feel like an expedition. [This book] was written mainly as a way for me to put my thoughts down and heal mentally from ordeals, but also to help others understand Gaucher disease.”