RARE Primary Immunodeficiency
RARE Primary Immunodeficiency
Welcome
This edition has been highly rewarding to work on and curate, and a real education about the world of primary immunodeficiencies. We have worked with some incredible, powerhouse advocates and organisations, and had the privilege of sharing some truly impactful stories. We hope that this detailed look at primary immunodeficiencies (also referred to as PIDs, PIs or PIDDs) enhances understanding of this group of conditions which represents nearly 500 diseases, raising much needed and long-lasting awareness, and we are thankful to our edition partners, Pharming, who have supported us in this mission
Rare inspo
Extraordinary times call for extraordinary efforts. With an impactful early life of advocacy behind him, when the unimaginable happened in Ukraine, Adrian Goretzki was not only in the right place at the right time but had the necessary skills to play his part in stemming a humanitarian crisis for the PI community in the region. This makes Adrian our RARE Inspiration
https://bit.ly/RARE-Inspo-Adrian
Clinical Spotlight – AusPips
Severe Combined Immunodeficiency (SCID): a new hope with newborn screening
The topic of newborn screening has very much been in the news of late, with much being made of its potential for early diagnosis and treatment. One community which stands to benefit significantly from the implementation of such screening is the severe combined immunodeficiency (SCID) community, and it is working hard to realise those benefits. Now the mission is clear—to see this successfully rolled out more widely
https://bit.ly/RARE-PID-AUSPIPS
Charity Spotlight – IPOPI
30 years of international collaboration—IPOPI
This month the International Patient Organisation for Primary Immunodeficiencies (IPOPI) celebrates 30 years supporting its global membership. In this time, they have grown to be a powerful conduit for conversation and collaboration on all things Primary Immunodeficiencies (PID), which includes meeting the challenges thrust on its members by the global COVID-19 pandemic. Its president, Martine Pergent, met with us to talk about the global landscape for PID and how IPOPI is playing its part in shaping that landscape
Editors Welcome
RARE Primary Immunodeficiencies
Simply put, an individual living with a primary immunodeficiency (PID) has an immune system that does not work correctly. But do we really understand what that means?
Pharming SM/Intro’s
Chasing a diagnosis -Genetic testing may help confirm APDS
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For patients chasing a diagnosis, genetic testing may help confirm APDS. For some with the disease, that journey can mean trading social occasions for hours in exam rooms, staying at home to avoid potential infections, and sometimes facing illness severe enough to interrupt schooling or work.
But in recent years, genetic testing has emerged as a way to identify the disease in affected individuals. Doctors can take a patient’s saliva, blood or cheek-swab sample and send it to a lab, where pathologists will look for evidence of the genetic variants that drive APDS.
https://bit.ly/RARE-PID-CHASINGADIAGNOSIS
#APDS #GeneticTesting #PrimaryImmunodeficiency #RareDisease #PID
For patients chasing a #diagnosis, #GeneticTesting may help confirm APDS. In recent years, it has emerged as a way to identify the disease in affected individuals where pathologists will look for evidence of the genetic variants that drive #APDS.
https://bit.ly/RARE-PID-CHASINGADIAGNOSIS
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In people with APDS, an overactive immune system can cause a perplexing mix of symptoms. Appropriate treatment can be life-changing. We spoke with Eveline Wu, MD, chief of the paediatric rheumatology division and associate professor of paediatric rheumatology and allergy/immunology at the University of North Carolina School of Medicine and Heather, mother to a child with APDS about the diagnostic odyssey.
https://bit.ly/RARE-PID-APDS-PI3K
#APDS #DiagnosticOdyssey #PrimaryImmunodeficiency #RareDisease #PID
In people with #APDS, an overactive #ImmuneSystem can cause a perplexing mix of symptoms. Appropriate treatment can be life-changing. We spoke with Eveline Wu, MD and Heather, mother to a child with APDS about the #DiagnosticOdyssey.
https://bit.ly/RARE-PID-APDS-PI3K
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For caregivers, APDS information and resources provide crucial support. Because APDS is so rare, it’s not always easy for affected families to find each other, but as confirmed genetic diagnoses multiply, connecting is becoming easier.
https://bit.ly/RARE-PID-APDS-RESOURCES
#APDS #DiagnosticOdyssey #PrimaryImmunodeficiency #RareDisease #PID #Caregiver #Support
For #caregivers, APDS information and resources provide crucial #support. Because #APDS is so rare, it’s not always easy for affected families to find each other, but as confirmed #genetic diagnoses multiply, connecting is becoming easier.
https://bit.ly/RARE-PID-APDS-RESOURCES
Articles
Understanding primary immunodeficiency
Doctor Susan Walsh, CEO of the charity Immunodeficiency UK, talks us through a detailed overview of what PID is, and what its signs, symptoms and potential complications are. And finally, what the current treatment options are, as well as a look ahead to what’s on the horizon for the PID community
https://bit.ly/RARE-PID-UNDERSTANDING-PID
Angels for life
SCID Angels For Life was founded over a decade ago by Heather Smith following the death of her firstborn son at just seven months old, whose diagnosis was later confirmed as severe combined immune deficiency (SCID). Since then, fuelled by its motto “knowledge is power”, this small, primarily volunteerrun organisation, has dedicated its time to increasing awareness of SCID and providing a safe space for families to connect. Recognising the significant financial impact of such a diagnosis on families, high on their priorities is their grant scholarship programme, as well as supporting families on their SCID journey, particularly in the early days following a diagnosis
https://bit.ly/RARE-PID-ANGELSFORLIFE
SCID Angels: supporting education
Created from generous donations made to SCID Angels for Life Foundation in memory of eighteen-year-old Aisha Chaudhary (who died from SCID related complications in 2015), the Aisha Chaudhary Scholarship provides assistance to recipients with the cost of further education. 21-year-old Aidan Walsh was awarded the $5,000 grant in 2021 which has helped him take his passion for sport and business to college, where he is in his senior year as a triple major in sport management, business analytics and management information systems. Aidan and his mum spent time with us to talk about growing up with SCID and the impact the grant has had on Aidan
https://bit.ly/RARE-PID-SCID-ANGELS
A guiding compass for SCID
The Immune Deficiency Foundation, founded in 1980, is a US-based organisation that, like many, was founded by a mum on a mission, following her son’s primary immunodeficiency (PI) diagnosis. With nowhere to turn for the support and resources she needed, her story is a familiar one. But some 42 years later the IDF is anything but the micro-organisation of its origins. With a staff of nearly 40, it has found a sustainable balance and works hard to support families who may be affected by one of the 450 types of PI. Its mission is clear—to improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiencies through fostering a community empowered by advocacy, education and research
https://bit.ly/RARE-PID-COMPASSFORSCID
Primary immunodeficiency, fatigue and me
Hannah Bruce, Trustee, Immunodeficiency UK talks candidly about the impact of PID on her life and career, and about what life looks like for her now, post pandemic
https://bit.ly/RARE-PID-FATIGUEANDME
Liquid gold: how immunoglobulin treatment improves the lives of primary immunodeficiency patients
Immunoglobulin is a stalwart treatment in the disease management of PIDs. Global events, such as the pandemic, conflict and economic instability, resulted in a backdrop of uncertainty over its short- and long-term supply availability, and saw it hitting the news for all the wrong reasons as Dr Emily Edwards, president of AusPIPS Inc. explains
https://bit.ly/RARE-PID-AUSPIPSLIQUIDGOLD
Primary immunodeficiency and COVID-19: a complicated relationship
The global COVID-19 pandemic represents a worst-case scenario for people with primary immunodeficiency (PI), with no end in sight. PIs includes more than 450 rare diagnoses in which part of the immune system is missing or does not function properly. People with different types of PI have a range of symptoms, but all have compromised immune systems and are vulnerable to infection from everyday germs.
https://bit.ly/RARE-PID-COVID19
When tragedy strikes—twice: finding light in the dark
In 2018, Allison (D’Ambrosio) Bones walked through the flames, her world set ablaze by two unfathomable tragedies just five months apart. That March, she watched her husband Jamie lose his three-year battle with colorectal cancer. Five months later, she experienced every parent’s worst nightmare, the sudden and unexplained death of her four-year-old son Travis
https://bit.ly/RARE-PID-TEAM4TRAVIS
Empowering patients to improve clinical research in rare diseases
The ultimate goal of drug development in any rare disease is to find a cure. To achieve this, patients and their caregivers need to be empowered, their advice sought and needs embedded throughout the drug development process. The rare disease setting is one of the fastest growing areas for biopharmaceutical investment, but rare diseases are inherently heterogenous. All too often, little is known about the disease or its course, and the patient journey is typically long and fraught with difficulties. Written by Craig Stevens, senior patient engagement specialist, and Amanda Henkel, VP, strategy, Nucleus X Consulting (part of Nucleus Global, an Inizio Company)
https://bit.ly/RARE-PID-EMPOWERINGPATIENTS
Beauty and the bacteria
Rogan Brown is an Anglo-Irish artist living in France, who creates layered paper sculptures inspired by natural organic forms at the microscopic cellular level. He is fascinated by the aesthetics of this hidden microbiological realm and attempts to create accessible visual metaphors that give us a glimpse of a world whose scale is incomprehensible
https://bit.ly/RARE-PID-BEAUTYANDTHEBACTERIA
On the road to treatment and care: how rare patients and specialists connect
Written by Pam Cusick, senior vice president, Rare Patient Voice LLC
The journey of rare disease patients remains one that can be challenging for them as well as for their loved ones and even their physicians. Earlier this year, Rare Patient Voice LLC, a leading patient recruitment firm, and MediFind, an advanced digital health platform helping people facing complex health challenges find better care, published a report examining the current state of the diagnostic odyssey for patients with complex diseases during these times of global health issues.
Equality Diversity and Inclusive Research Association: the journey to EDIRA™… A road less travelled
On 12 May 2023 RareQoL will host the first EDIRA conference. This will be a conference with a difference. It will bring together diverse rare disease patients and advocates with communities from different fields of practice. The focus of the conference will be diverse rare disease communities and how to include them in research design and practice. Dr Sondra Butterworth, RareQoL CEO, tells us what to expect
Medical gaslighting in the RARE youth
RARE Youth intern, Katie Callaghan, lives with multiple rare conditions including EhlersDanlos syndrome and chronic intestinal pseudo-obstruction. She has first-hand experience of medical gaslighting and how devastating it can feel for young people as they grapple with taking control of their own complex health needs
https://bit.ly/RARE-PID-RYR-GASLIGHTING
#RAREInsights
E. Robert “Bob” Wassman MD chief medical officer, TREND Community gives his insight on PIDDs at a glance in our RARE Insights column and explains how testing early for immune competency is important as many PIDDs are “mild” or diagnosed late and these patients suffer unduly as a result. https://bit.ly/RARE-PID-RARE-INSIGHTS
RARE Ramblings
Richard is a veteran of rare disease, having lived with CIDP for nearly 40 years. Richard writes exclusively for RARE Revolution, and his column is an insightful and often humorous musing on life with a rare disease. We hope you enjoy his RARE Ramblings!
https://bit.ly/RARE-PID-RARE-RAMBLINGS
RARE Tech
Virtual and augmented reality based medical training. Sean Gordon is back as our resident #RareTech columnist. Join him as he discusses the many benefits of using VR in the medical field
https://bit.ly/RARE-PID-RARETECH
CRDN
Cambridge Rare Disease Network (CamRARE), bringing the rare disease community together to educate the public at #RAREfest22. FREE to attend, RAREfest22 is an award-winning festival that is as unique as the people it champions. On Friday, 25 November the festival launches with an evening of music, dance and talks by the rare community.
The Dash Alliance and RARE Revolution Magazine – levelling up for RARE
The Dash Alliance is partnering with RARE Revolution Magazine and the RARE Youth Revolution to deliver a hybrid event that celebrates five years of The Dash Alliance’s flagship virtual event The Rare Fair. The Rare Fair 2023 will be a hybrid event for the rare disease community, streamed live from the Research Triangle Park in Raleigh, North Carolina, from 12–15 July. “We are honoured to present this event in partnership with RARE Revolution Magazine and RARE Youth Revolution, to bring an exciting agenda focused on levelling up the rare community.
https://bit.ly/RARE-PID-LEVELLINGUP
Bereavement and loss
A key part of Unique’s ethos is that no family affected by rare chromosome or gene disorders should ever feel alone. Several members of the Unique team have undergone bereavement training (particularly around child bereavement) and they have produced a guide for families entitled Bereavement and Loss, which details lots of different resources.
https://bit.ly/RARE-PID-UNIQUE
Illuminating RARE Youth Talent: Illuminating your path to a new career
The Illuminating RARE Talent Internship Programme aims to provide opportunities for people within the rare disease community to gain real, valuable and meaningful work experience which they can use throughout their lives. At RARE Youth Revolution, we are leveraging our charity, industry and governmental connections to help us with our goal
https://bit.ly/RARE-PID-RYRIRT
Teddington Trust and XPSG—coming together with a new identity for a new impact-driven mission
Scottish charity Teddington Trust announces a new name and new look to launch its next 10 years of service to people affected by the ultra-rare condition xeroderma pigmentosum (XP). Learn more about Action for XP here :
https://bit.ly/RARE-PID-ACTIONFORXP
All wheels up for accessible travel for all
All Wheels Up (AWU) is the only not-for-profit in the world with a sole focus on inclusive air travel. The organisation was created in 2011 to raise awareness, advocate for passengers, and fund and conduct research into wheelchair spots on planes. In the last ten years, All Wheels Up has become a leader in the field of accessible air travel.
https://bit.ly/RARE-PID-ALLWHEELSUP
Rays of Sunshine treats families to an action-packed Milly Day on the Thames!
Rays of Sunshine children’s charity held its annual Milly Day on the banks of the Thames on 21 June, which saw Wish children and their families enjoy a fun day in the sunshine!
https://bit.ly/RARE-PID-MILLYDAY
Growing up shared – Book review
Stacey Steinberg is a law professor and expert on the intersection of social media and parenting. She is also a mother herself, social media sharer and an avid photographer, who brings together her passions and lived experience to provide a thought-provoking insight into a world where we are all growing up shared. And most importantly, how to do it safely.
https://bit.ly/RARE-PID-GROWINGUPSHARED
A life with uncertainty: my story of living with scleroderma – Book review
Born and raised in NSW Australia, Claudia was diagnosed in 2013 with the autoimmune disease scleroderma. A diagnosis that shook her whole world and led her to undergo a stem cell transplant. Of Lebanese descent, family and faith helped Claudia on this uncertain journey.
