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Spring 2021 RARE Bones

RARE Bone Disorders

Shared across all channels 12pm 30th April 2021

‘Spring is the perennial season of hope and new beginnings, and it is fair to say that this edition is brimming with both.’ Nicola Miller, Editor-in-chief. Open #RAREBones here: 

Full edition

Shared across all channels 3rd May 2021

“I cannot help but feel filled with hope after basking in the energy of the rare bone disorder community for the last five months during the production of this edition. Like all rare disease communities, it is met with challenges aplenty, and life can be anything but easy, but their spirit of enthusiasm is never found lacking. I am inspired by the innovation from within as they seek to develop solutions to their daily challenges.” Nicola Miller

Editor’s Welcome

Shared across all channels 5th May 2021

‘Woman of Valor’

This month we are honoured to dedicate our RARE Inspiration feature to an incredible woman—a woman to whom the rare bone community owes so much—and that woman is Amanda Cali!

“I don’t think there’s anyone in the FOP world who doesn’t know her name. She is a true visionary, a passionate advocate and brave trailblazer. I’m proud to call her a colleague and a friend.” Michelle Davis executive director, IFOPA

Woman of Valour

Shared across linkedin  6th May 2021

Clinical trials in skeletal dysplasia: paving the way for treating rare diseases

Within the world of rare disease, skeletal dysplasia represents a particular subgroup. These genetic conditions are all linked by the effect they have on the skeleton. At the last count, according to the International Skeletal Dysplasia Society Nosology and Classification of Genetic Skeletal Disorders (2019 revision), there were over 450 different types. Some are more common than others: occurring in 1 in 20,000 people, achondroplasia is at the top of the chart. Melita Irving, consultant clinical geneticist at Guy’s and St Thomas’ NHS Hospital Trust, London and author of the Haynes Human DNA Manual: Understanding Your Genetic Code, takes us through progress in this field and the hope that clinical trials represent to the rare bone disorder community 

“We need to bring together the skills of healthcare teams with the best experience of that particular condition, the academic prowess of the laboratory-based scientists, and the people with the money to pay for the research and development needed in setting up a clinical trial.” Melita Irving, consultant in clinical genetics,Guy’s and St Thomas’ Hospital, London

Clinical trials in skeletal dysplasia

Shared across channels week 19th May 

Solving the puzzle of rare diseases in Ireland

With a current shortage of genetic consultants and counsellors and a lack of genomics infrastructure in the public health system, there is a pressing need for solutions to avoid significant patient waiting lists and a lack of timely diagnosis for children with rare diseases in Ireland. Responding to this, a partnership between Genuity Science and a leading children’s hospital is looking to limit the impact of these challenges for rare disease families with their Rare Disease Programme

“Identifying a child’s genetic condition can bring new hope for the family….A genetic diagnosis in many cases helps patients and their families to make clearer decisions for the future; it enables informed genetic counselling and contact with support groups.” Genuity Science

Solving the problem of rare disease in Ireland

Shared across channels 6th May/ 

Stand to attention for the Tin Soldiers: bringing awareness to rare bone disorders

What started out as a mum and a filmmaker who wanted to shed light on an ultra-rare condition, ended in a multi-award-winning documentary and a global outreach programme to search for thousands of people with a rare condition called fibrodysplasia ossificans progressiva (FOP) who are missing and need to be found

“When I realised how many ‘missing’ people there are, it was a visceral moment. I knew right then, we had to embark on a mission to find them.” – Odette Schwegler: executive director, Tin Soldiers FOP Outreach Programme

Stand to attention for the Tin Soldiers

Shared across all channels 4&5th May 2021

RARE Bones
What happens when the very structure of our physical being is compromised? Our bone health can impact every aspect of our lives and requires a coordinated approach to care to ensure that both physical and emotional wellbeing is supported. Our editor, Nicola Miller, introduces this dedicated section on RARE bone disorders

“The rare bone community is a vast global entity represented by some notable powerhouse rare advocates across patients, charity, healthcare, science and industry. Great strides are being made in supporting individuals and families as they navigate the challenges to strive for the best version of independent life possible, and charities are a driving force in that.” Nicola Miller

RARE Bone intro

Shared across all channels 3rd May 2021

Fostering research in rare bone conditions

Inês Alves is a patient expert and ePAG for the European Reference Network on Rare Bone Diseases (ERN BOND). She is the founder of ANDO Portugal – the National Association for Skeletal Dysplasias, Beyond Anchondroplasia and the European Rare Bone Forum (ERBF). Inês is passionate about fostering patient involvement in research and that more researchers become empowered by the value of collaborative work with patients and patient organisations

“If people know what they are capable of, they will do something beyond what they assume they are prepared for.” Inês Alves, president of ANDO Portugal, chair of European Rare Bone Forum

Fostering research in rare bone conditions

Shared across all platforms on 3rd May 2021

Ipsen’s commitment to rare disease: Why patient centricity is more than
just a buzzword

My name is Isabelle Bocher-Pianka, I work as the chief patient affairs officer at Ipsen. My mission at Ipsen is to ensure that “the people we care about are at the center of the decisions we make.” With my team, I act as the internal and external reference “patient ambassador”, responsible for driving and promoting the patient centricity vision and strategy across every facet of the business. I support the sourcing and internal dissemination of patients’ insights, needs and priorities to shape Ipsen’s projects to positively impact patient outcomes

“At Ipsen we believe that collaboration with patient organisations needs to be built with the future in mind. We strive to understand the issues patients face so we can help support their long-term needs and objectives, not just collaborate on a one-off project.” Isabelle Bocher-Pianka 
chief patient affairs officer, Ipsen Global Medical Affairs

Ipsen’s commitment to rare disease 

Rarest dictionary 

Shared across TW/FB/IG 10th May 2021 week

Finding hope in a new global neighbourhood—Sophie’s Neighbourhood

Following three-year-old Sophie Rosenberg’s diagnosis of an extremely rare genetic disorder, Sophie’s parents, Lauren and Hosea Rosenberg, started a non-profit organisation called Sophie’s Neighborhood to fund life-saving research to discover a new or repurposed therapeutic. The hope is that this research will not only benefit Sophie and others living with the same progressive disorder, but also a wider-reaching community of people living with similar disorders.

“Sophie is fun and silly, just a typical three-and-a-half- year-old in terms of her spirit… I think she has a really strong personality which is going to serve her really well.” Lauren Rosenberg, Sophie’s mom

Finding hope in a new neighbourhood

Shared week 19th May 

“Myhre Syndrome? I’ve not heard of that before.”

It’s a common response, not only in social circles, but also from physicians too. Myhre Syndrome, first classified in 1981, is in the ultra-rare category of genetic disorders, with around 200 known cases in the world. So, we understand why people haven’t heard of Myhre Syndrome! Increasing awareness was one of the motivations for a group of Myhre parents who, in 2019, set up the Myhre Syndrome Foundation. 

“For so long there were no answers to the many health issues I’d been facing… After two years of genetic tests, in the summer of 2020, I learned I have Myhre Syndrome and my whole life suddenly made sense.” Patti Schultz

Myhre Syndrome 

FOP fighter and successful scientist 

Nadine Großmann shares her journey from diagnosis to dedicating her career to finding a cure for FOP

“Getting to know new people is, for me, really difficult….I always tell people I’m super shy. You wouldn’t believe me any more after talking to me about FOP, because it’s my passion… and so I would tell everybody who wants to know about it, I would tell my story.” Nadine Großmann

FOP Fighter and successful scientist 

Shared 6th May Twitter 12th May Linkedin 

Putting the RED FLAGS of rare disease to the test

In 2018 M4RD hypothesised that a Red flags tool would help front line clinicians spot when their patient may have an underlying rare disease based on a holistic picture of their case. M4RD went looking for these ‘Red Flags of Rare Disease’ with a survey aimed at patient advocacy groups.

“Listening to the patient’s story can offer the practitioner a whole picture of the suffering and can lead to a better understanding of the natural history, cause, and development of the condition”. Sondra Butterworth, RareQOL: founder and director of research and social impact

Red flags of rare disease 

Oral health and rare bone disorders

There are many things to consider when supporting patients with rare bone disorders, but at times the focus of care may bias toward one discipline, and may not reflect full health and lifestyle implications for the individual. An often overlooked area which is of key importance for bone disorders is that of oral health. In this article, paediatric dentist Clive Friedman, who has a wealth of experience in supporting patients with bone disorders, details an approach for evaluating rare disorders from an oral health perspective, which keeps patients at its heart

“In coaching language, it is about seeing every person as NRCW—naturally resourceful, creative, and whole—irrespective of the disorder they may have.” Clive Friedman, paediatric dentist 

Oral health and rare bone disease 

Shared on Instagram on 7th May 2021 Twitter 14th May 2021 Facebook 19th May week.

The power of Sleep

Most of us will know the pleasure of a deep fulfilling restorative night’s sleep, and we will also know the angst of not being able to sleep, waking in the night or waking to feel tired and drained before the day has even begun. We all have times when we need to focus on improving our sleep. In our rare bone disease clinics, I have increasingly recognised that sleep can be a problem for people living with rare bone diseases. It’s an area in rare bone diseases where little specific research has been done, so we tend to have to give more general advice. In this article we’re going to think about why we sleep, what problems can occur with sleep and some strategies that might help if sleep becomes difficult.

“Many things – such as loving, going to sleep, or behaving unaffectedly – are worst done when we try hardest to do them.” C.S. Lewis

The power of sleep 

Shared on linkedin 7th May 2021

Post-surgical physical therapy management in skeletal dysplasia

With a wealth of physical therapy experience between them, Maureen Donohoe and Penni Romero discuss the vital role physical therapy plays for individuals with skeletal dysplasia following surgery, in assisting their transition home and aiding their long-term recovery

“PT is an important component of maximising surgical outcome. It helps to get the person with skeletal dysplasia from hospital to home, and back to age-appropriate activity.” Maureen Donohoe PT, DPT and Penni Romero MS, PT

Post-surgery physio therapy

Shared week of 10th on Linkedin

Empowering independent living—
the Ability Toolbox

The IFOPA has launched the Ability Toolbox Online Guidebook—a database of adaptive tools, equipment, home modifications, and tips to help individuals in the fibrodysplasia ossificans progressiva (FOP) community with independent living. Programme manager Karen Kirchhoff explains how this resource is empowering not just those with FOP but the wider rare bone disorder community too

“While I do have a background in physical therapy and have a good understanding of adaptive equipment, it is the first-hand knowledge that community members have of living with FOP that makes their tips and adaptive tool creations so much more valuable than mine.” Karen Kirchhoff family services coordinator, IFOPA

Empowering independent living

RAREsies are proud, determined and strong

Quite literally one in a million, Joanne Paquette was diagnosed with Ollier disease when she was a child. With a lifetime dominated by surgeries and the search for others with the disease, Joanne founded RAREsies Rule. This not-for-profit organisation offers support to the RARE community and has recently launched an Educational Scholarship Program to help young people and their families. This is Joanne’s story

“Support, guidance, understanding and accepting are all part of the process after diagnosis, and I offer these to my RAREsies Rule group members.” Joanne Paquette founder and CEO, RAREsies Rule/Ollier’s Disease Canada

Raresies are proud, determined and strong

Rare Bone Disease Alliance

Shared week 19th twitter 

Lymphangiomatosis and Gorham’s Disease Alliance

The Lymphangiomatosis and Gorham’s Disease Alliance (LGDA) exists to support those living with complex lymphatic anomalies (CLAs). Tracy Milne, the LGDA programs assistant, talks us through the presentation and symptoms of some of these rare diseases

“The mission of the Lymphangiomatosis and Gorham’s Disease Alliance (LGDA) is to bring hope to patients with complex lymphatic anomalies (CLAs) and improve their quality of life.” Tracy Milne LGDA programs assistant

Lymphangiomatosis and Gorham’s Disease 

(There are 4 memes for this article – the main article and Hayley’s story)

Shared on Instagram and Facebook/Twitter 10th May 2021

Young and RARE

Living life with a rare condition can be challenging. Believe me, I know. I’m Katrina and I have juvenile systemic lupus erythematosus (JSLE), an invisible illness which can be life-limiting and disabling. I had the pleasure of creating questions looking at how rare disease can impact the lives of young people. In this edition, I asked four young people from America about their rare bone conditions, lived experiences, challenges and advice to others

“It is always inspiring to hear other young people’s experiences of their rare conditions as there’s always a sense of comfort to know that there are others experiencing the same challenges as you, despite having different conditions and living in different countries.” Katrina Brooks RARE Youth ambassador

Young and RARE 

(There are 4 memes for this article)

Shared on Twitter 13th May 2021


Lucy Imber is the global registry coordinator at the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University. Lucy is currently working on Share4Rare—a pan-European project which aims to connect rare disease patients and help channel their lived experiences to boost research in the field

Share4Rare “interactive platforms will break isolation and allow learning across rare conditions, so that being rare no longer means being alone.” Lucy Imber, global registry coordinator,
Newcastle University


Shared week 19th Twitter 

Them Bones, Them Bones… 

When we experience difficulties with our health or mobility, we generally visit the family doctor who then might refer us to a consultant or specialist. We all assume that they know what they are talking about when they diagnose the complaint, but they don’t always know—and sometimes get it very wrong. But often the clues are there, even at the very beginning.

“For me, putting on orthotics in the morning is like putting on a suit of armour, and I would be willing to bet no consultant or technician has even given a minute’s thought to any of these issues.” Richard Gelati

RARE Ramblings

Shared week 10th May 2021

Mental Health Apps Increasingly popular but are they effective? 

The worldwide COVID pandemic, in addition to the illness and deaths, has precipitated a mental health crisis. “During the pandemic, about four in ten adults in the U.S. have reported symptoms of anxiety or depressive disorder, a share that has been largely consistent, up from one in ten adults who reported these symptoms from January to June 2019.”1 This has had even a greater impact on the rare disease community.”2 3 

“Mental healthcare professionals are less accessible due to the pandemic making the rare disease community more vulnerable.” Sean Gordon


Shared twitter week 19th 

EURODIS Black Pearl Awards

This year saw the annual EURORDIS Black Pearl Awards take on a fully virtual format for their 10th anniversary event, as rare disease stakeholders from across the globe joined together for an evening of celebration.

“This wonderful event brought two special ladies from the rare bone disorder community front and centre and into the spotlight, so it seemed a fitting tribute in this special edition to honour their contribution to rare bone advocacy.” Nicola Miller 

Black pearl awards

Sheila Unlocking the treatment for PKU

This book is a detailed and very moving account of the contribution that Mary and Shelia made to the understanding of phenylketonuria (PKU), and how their story fueled great scientific endeavours which led to an effective treatment for PKU, a refinement of which still forms the basis of modern medicine’s response to managing this disease, and the rollout of a nationwide newborn screening programme.

“One simply cannot lay this book down without feeling deep regret that Mary, having achieved so much for her beloved daughter Shelia and future PKU families, was not more supported in the years that followed.” Nicola Miller

Book review – Sheila

Shared on all platforms 10th May week 

Disjointed edited by Diana Jovin

Disjointed, is the most comprehensive and up-to-date resource on EDS and its comorbid conditions that I have read so far. Moreover, it offers the patient’s perspective in combination with the most recent knowledge presented by EDS experts from all across the world. Combining personal experience with medical information is not only helpful for people affected by EDS, but also for the practitioner who often might not know much besides medical facts.

“I highly recommend Disjointed to anyone living with a connective tissue disorder, but more importantly, I hope that all medical professionals will read it and help to end the suffering of patients all over the world.” Karina Sturm

Book review – Disjointed 

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