2022 Conference Programme by fopfriends

Conference and Family Gathering Manchester, England, May 2022

There is nothing more inspiring than a young person with FOP, making the most of life. We are all dealt different cards and it’s how we play them

that matters. People with FOP who enjoy life and light up the lives of others are grand masters of the game.

From “Supporting a child with FOP: a practical guide to their learning journey” FOP Friends, 2019

Conference and Family Gathering Programme

9:00 Welcome and prompt Housekeeping

Chris Bedford-Gay Chairman and Trustee of FOP Friends, and IFOPA Board Member

9:15 Taking Part in a Clinical Trial

Dr. Chris Scott A look at what it means to take part in a clinical trial. What factors should you take into consideration? How do you decide if it’s the right choice for you?

9:30 STOPFOP

Dr. Marelise Eekhart and Dr. Bernard Smilde An update on the how the trial is moving forward, which trial sites are now recruiting, and their plans for the future.

9:45 Patient Centricity at Ipsen

Dr. Alex Artyomenka and Dr. Kim Croskery An overview of patient-centric initiatives at Ipsen, including examples of cocreation with the FOP community, focused on increasing awareness of the condition and amplifying the patient voice, as well as updates in the field of FOP research.

10.05 Incyte: Investigating INCB000928 for FOP

Irma Dzhindzhikhashvili, PhD With an introduction to Incyte, Irma will talk about the role of ALK2 in FOP and explain about the Clinical Development Program for INCB000928 in FOP

10.25 Break and Time to Connect

Refreshments will be provided in the foyer.

10:55 Regeneron Update

Susie Dorricott and Stephen DiMartino, PD/PhD An update from Regeneron on their progress, their projects and focus for the future.

11:15 BioCryst Update

Doug Johnston, D.O. Doug will give BioCryst company overview, and updates in development in the world of FOP.

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering Programme

11:35 Q&A

Representatives from StopFOP, Ipsen, Incyte, Regeneron and BioCryst, led by Dr. Scott An opportunity to ask questions regarding clinical trials and the research .

11:55 Group Photo

Group photograph in the main foyer All attendees are warmly invited to join us for a group photograph in the main foyer. Children in the creche will be brought by the staff.

12:10 Lunch

Buffet lunch, served in the foyer

13:10 Covid and FOP

Mona Al Mukaddam, M.D Reflections on the impact of Covid on patients with FOP, and how we learn to “live with Covid”.

13:30 Skin and FOP

Patricia Delai, M.D A talk about how FOP can affect the skin, and a look at ways to improve and maintain your skin health.

13:50 Oral Health and FOP

Ms Gehan Abou-America and Clive Friedman, DDS A discussion about the importance of excellent dental healthcare for patients with FOP, and a look at options available to them should they require dental treatment. Dr Gehan will also visit the FriendZone to speak with the children and young people.

14:10 The Team at the RNOH

Professor Richard Keen, Dr. Judith Bubbear and Martyn Dudley, CNS An update on the team at the RNOH, and a look at the services they can provide to support patients with FOP.

14:30 Q&A

Medical Clinician Panel An opportunity to put your questions to the medical experts

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering Programme

14:50 Break and Time to Connect

Refreshments will be provided in the foyer.

15:20 The Role of the ICC

Frederick Kaplan, M.D (via videolink) A presentation on the International Clinical Council for FOP. He will talk about the development of the Medical Treatment Guidelines, and look at the role of the ICC in supporting the global FOP community.

15:40 Q&A

Professor Fred Kaplan will be ‘available’ to answer any questions.

16:00 1 in a Million

Robert Pignolo, M.D A discussion around the epidemiology of FOP and a look at how the prevalence has changed to One in a Million.

16:20 Workshops

Informal Workshops The opportunity to meet and chat with others, on topics of importance: Topics will include: • The Escape Room: Pop down to the FriendZone (Dublin Suite) and see if you can use your knowledge of genetics to break out of Dr. Ellie Williams’ Escape Room! • The Ability Tool Box: Meet with Karen from the IFOPA, and look at how the tool box can help you—and you can help with the toolbox. Share any aids you may use yourself • Living with FOP: Open discussions for FOPers and their families, facilitated by Hope from the IFOPA to share experiences • Meet the Scientists: The opportunity to ask questions directly to the scientists, researchers, physicians and pharmaceutical representative.

17:15 Close

Chris Bedford-Gay We look forward to welcoming you back for the Family Dinner. The Bar will open at 7pm, and dinner will be served at 7:30pm.

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Chris Bedford-Gay, BSc (Hons), MBCS

Chris is a founding trustee of FOP Friends and is on the IFOPA board, where he has served for over 10 years. Chris also chairs the International President’s Council for FOP. He is also a

published author on several FOP papers and was instrumental to the success of the world-wide FOP Flare-up study. Chris carries out all his FOP work alongside his full-time day-job as company director, and Chief Technology Officer, of Skillsarena. Chris is an active member of Manchester Round Table, a charitable social organisation, where he organises the occasional beer festival raising £thousands for local good causes. He enjoys swimming and badminton (Chris can still beat Oliver in a match – just!), although he’ll have a go at most sports when given the opportunity. Chris is married to Helen, and they have two other sons, Leo and Harry. As a child, what did you want to be when you grew up: A games developer Your go-to comfort-binge TV show: The Walking Dead

Your guilty pleasure: Jelly sweets The trip you most want to take, but haven’t yet: Iceland to see the Northern Lights, or Austria Dr. Chris Scott, MBChB, FCPaed (SA) Chris Scott is Professor and head of Paediatric Rheumatology at Red Cross War Memorial Children’s Hospital and the University of Cape Town. He is currently Director of the Clinical Research Center at UCT. His research and educational focus is on the care of patients with rare and rheumatic diseases in Africa and other less resourced communities. He is the PReS Chairperson of the Global Task Force for Musculoskeletal and chair of the ICC for FOP. He also

serves on the Steering committee of the Paediatric Society of the African League of Associations for Rheumatology. In his spare time, Chris likes to throw the boomerang and play his guitar (usually not at the same time). As a child, what did you want to be when you grew up: A marine biologist. I also thought of being a journalist but travel I always knew wanted to be a paediatrician in the end. Your go-to comfort-binge TV show: Lord of the Rings trilogy Your guilty pleasure: Hotdogs. I have always loved and always will love hotdogs. The trip you most want to take, but haven’t yet: Oh, there are several: A hike Rwanda to see the Gorillas, to hike the entire Appalachian Trail, and a motorcycle tour of Patagonia.

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Elisabeth Marelise W. Eekhoff, M.D, PhD

Marelise Eekhoff is an internist-endocrinologist, associate professor at the Department of Internal Medicine, Department of Endocrinology of the University Medical Centers Amsterdam.

Her work encompasses outpatient care, education and research. She founded the FOP Expert Center in Amsterdam and the European FOP Consortium; she is a member of the ICC on FOP and on the Medical Advisory Board of the IFOPA Patient Registry. Representing the Amsterdam Rare Bone Disease Center (FOP, Osteogenesis imperfecta (OI), fibrous dysplasia (FDl), X-linked/ genetic osteoporosis and Camurati Engelmann), the team aims to find new diagnostic tools and treatments. Several trials for FOP are underway in Amsterdam, and there is close collaboration with the Amsterdam Imaging Center. Attention is paid to the analysis of the 18F NaF PET/CT that can demonstrate early FOP bone formation activity. As a child, what did you want to be when you grew up: A vet or doctor

Your go-to comfort-binge TV show: The Crown Your guilty pleasure: Flying an airplane in our formation team, early Sunday mornings The trip you most want to take, but haven’t yet: On Safari Bernard J. Smilde, M.D Bernard Smilde is a Medical Doctor at the Amsterdam University Medical Center in The Netherlands, currently doing a PhD on FOP. He works as part of the team at the Amsterdam Bone Center with Dr. Marelise Eekhoff. Bernard Smilde attended the VU medical school and has worked for several years in Internal Medicine. During this time, he developed a particular

interest in rare bone diseases which has culminated in starting a PhD in FOP. A major part of his research focuses on finding new treatments to help patients with this disease. As a result, he is coordinating the STOPFOP trial, an international trial of the repositioned drug saracatinib for FOP. As a child, what did you want to be when you grew up: An astronaut Your go-to comfort-binge TV show: Scrubs Your guilty pleasure: Nachos loaded with cheese, guacamole and sour cream The trip you most want to take, but haven’t yet: Visiting New-Zealand

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Dr. Alex Artyomenko, MD, PhD, FMRSM

Dr. Artyomenko has over 20 years of clinical and research experience in the biopharmaceutical industry. He initially trained as a cardiologist. Alex has contributed to clinical development in

several therapeutic areas, increasing patients’ involvement in research and development in rare diseases. Dr. Artyomenko is the Global Patient Affairs Director for Rare Diseases at Ipsen, working with patient organisations and cross-functional teams to ensure that focus on patients’ needs is being maintained at all times. As a child, what did you want to be when you grew up: I always wanted to help people, and that got me into medicine. Your go-to comfort-binge TV show: Scrubs Your guilty pleasure: Video games The trip you most want to take, but haven’t yet: There are many things on my list, but a trip

across Japan is on top of it. Dr. Kim Croskery, PhD, EMBA Dr. Kim Croskery has worked in, or with, the pharmaceutical industry for over 15 years. Kim is the Medical Affairs Director responsible for the products in Ipsen’s FOP pipeline. She is passionate about ensuring equity of access to medical information, not just in monetary terms, but though clear communications developed by co-creating materials that are relevant and respectful to the intended audience. As a child, what did you want to be when you grew up: I have never thought about a particular job

– instead I am someone who believes that if you combine your passions, life will take you where you are meant to be. Your go-to comfort-binge TV show: Australian soaps! Your guilty pleasure: Australian soaps… The trip you most want to take, but haven’t yet: I LOVE to travel so there are lots of places I still want to get to, but high on the wish list would be the Maldives because they look like a small piece of heaven on earth.

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Irma Dzhindzhikhashvili, PhD

Irma is a Director Global Clinical Operations responsible for the execution of the PROGRESS study at Incyte. She received a PhD in Pharmacology from Moscow Medical Academy. For over 14

years, Irma has successfully executed global clinical studies in multiple therapeutic areas. Irma has been a major contributor to the PROGRESS study since the inception. As a child, what did you want to be when you grew up: A surgeon Your go-to comfort-binge TV show: Friends Your guilty pleasure: Chocolate (a lot of it!) The trip you most want to take, but haven’t yet: Australia Stephen DiMartino, M.D/PhD, Senior Medical Director, Clinical Sciences Steve DiMartino is a Senior Medical Director at Regeneron and has been with the organization for

the last 6 years. Prior to that, for 15 years, he was a clinical adult rheumatologist with a special interest in inflammatory muscle conditions and ultrasound of the joints. He currently lives in New York with his wife and two sons. As a child, what did you want to be when you grew up: Ventriloquist Your go-to comfort-binge TV show: Monty Python’s Flying Circus Your guilty pleasure: Pringles The trip you most want to take, but haven’t yet: Sicily

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation

Susie Dorricott, Regeneron, Director, Program Operations Lead, Global Development Susie Dorricott is a Director, Clinical Trial Management. She has worked in Clinical Operations for over 20 years, within pharma and biotech companies. Her passion and interest lies in rare

disease, and this has been the focus of her career over the last 12 years. Susie has worked on the FOP program at Regeneron since 2017, and will be overseeing the phase 3 FOP program. Susie lives and works in the UK. She has a husband, two teenagers and two dogs which takes up most of her spare time! As a child, what did you want to be when you grew up: A nurse, or an international netball player! Your go-to comfort-binge TV show: Chicago Hope/911 Your guilty pleasure: Pringles – Cream cheese/BBQ variety The trip you most want to take, but haven’t yet: Trip to New Zealand

Douglas T. Johnston, DO, FAAAA Dr. Doug Johnston is a senior medical director of clinical development at BioCryst. Prior to joining BioCryst, he spent 15 years as an allergist/clinical immunologist with a clinical research focus in hereditary angioedema (HAE), a rare swelling disorder. Doug collaborated as an author and principal investigator for clinical trials which helped transform the HAE therapeutic landscape over the past 15 years. He feels he learned the most from his patients and from his role working with children with HAE in collaboration with the Hereditary Angioedema Association. He joined the clinical development team at BioCryst to make a larger impact on people living with rare disease. When not working, he enjoys watching soccer and traveling with his wife and two

daughters. As a child, what did you want to be when you grew up: An architect who builds Disney hotels Your go-to comfort-binge TV show: The Big Bang Theory Your guilty pleasure: Pizza Napoletana The trip you most want to take, but haven’t yet: to visit the town my where my father was born in Scotland

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Mona Al Mukaddam, M.D, MS, CCD

Dr. Al Mukaddam is an adult endocrinologist in the Division of Endocrinology, Diabetes and Metabolism at the Pennsylvania and Director, Penn Bone Center. Dr. Al Mukaddam received her

Bachelor of Science and Medical Degrees from American University in Beirut, Lebanon. She completed her internship and residency in internal medicine at the University of Iowa, a fellowship in the Division of Endocrinology, Diabetes and Metabolism at Penn, and received a Master of Science Degree in translational medicine and therapeutics at the University of Pennsylvania. Dr. Al Mukaddam is board certified in internal medicine and endocrinology, diabetes and metabolism. She is the principal investigator on ongoing clinical trials in FOP at the Center for Research in FOP & Related Disorders at Penn and is a member of the International Clinical Council on FOP (ICC). As a child, what did you want to be when you grew up: A mathematician

Your go-to comfort-binge TV show: Beverly Hills 90210 Your guilty pleasure: Sour candy The trip you most want to take, but haven’t yet: A local hotel retreat (by myself) - a staycation! Patricia L.R. Delai, M.D Dr. Patricia Delai has been involved in FOP awareness in Brazil since 2000. She organized the first South American meeting in Sao Paulo. This led to her founding the Brazilian FOP Association. She translated IFOPA documents into Portuguese. Early on, she contacted hospitals and medical schools to inform physicians about FOP. In collaboration with others, Dr. Delai

located a multigenerational FOP family, an event that enabled the discovery of the FOP gene. Most recently, Patricia has worked with the First Lady of Brasil and others, to succeed in passing a new law to introduce FOP screening at birth – the first country in the world to achieve this. As a child, what did you want to be when you grew up: I was seven years-old and playing with Barbies. I built a hospital and was going to be a nurse. Suddenly I had a thought...hey! I can be a doctor!!!!!!!!!!!!!!!! And I never changed my mind. Your go-to comfort-binge TV show: Series like Chicago Med, Chicago Fire, Grey's Anatomy. Your guilty pleasure: Diet coke for breakfast The trip you most want to take, but haven’t yet: Svalbard in Norway, North Pole

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Ms. Gehan Abou-Ameira

Gehan Abou-Ameira is a Paediatric dental consultant at Great Ormond Street Hospital. She was appointed as a consultant in 2010 and moved to in GOSH in 2014. Her clinical interests in

addition to FOP includes craniofacial, oncology, dental trauma and endodontics. Gehan has treated many children with FOP over the years under general anaesthesia. Gehan qualified in 2001. Her postgraduate education and training took place at the Eastman Dental Institute and Hospital in London. She completed a master’s degree (MClin Dent) in Paediatric dentistry in 2005 and gained her membership in Paediatric dentistry from the Royal College of Surgeons of Edinburgh in 2006. She continued further training to consultant level at King's College, St George's and Great Ormond Street Hospitals. As a child, what did you want to be when you grew up: Vet (to play with dogs all day long) or landscaping from the environmental point of view

Your go-to comfort-binge TV show: Suits Your guilty pleasure: Ice cream The trip you most want to take, but haven’t yet: Hiking in Peru Clive Friedman BDS - Paediatric Dentists, Diplomate AAPD, Fellow SCD Clive is a graduate of the University of Witwatersrand, SA, and received his specialty in Paediatric Dentistry at the University of New Orleans. He is in full time clinical practice as well as Assistant Clinical Professor at the Schulich School of Medicine and Dentistry and the University of Toronto. He is a founding member of the CSDH. He currently sits on the editorial board of

BSDH, is a member of the education committee for IADH, and a special consultant to Special Olympics. He is also a member of the ICC for FOP and consults globally for people with FOP. As a child, what did you want to be when you grew up: Not as much what but where: I wanted a profession that would most easily allow me to leave South Africa — dentistry gave me that. Your go-to comfort-binge TV show: Skit ‘n’ Donder - translated from Afrikaans: ‘Shoot and Kill’ Your guilty pleasure: Maynard’s wine gums The trip you most want to take, but haven’t yet: Truth - I have taken all the trips I have ever wanted - now it’s more about taking as many trips with my family to wherever we can - I have travelled to places most people only dream of.

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Professor Richard Keen, BS, PhD, FRCP

Professor Keen graduated from St Mary's Hospital in London. He developed his interest in bone diseases whilst working at St Thomas’ Hospital with Professor Tim Spector (now known for

developing the Covid Zoe App). As a research fellow, Professor Keen studied genetic influences on osteoporosis, leading to the award of his PhD. In 1999, Richard was appointed as Director of the Centre for Metabolic Bone Disease at the Royal National Orthopaedic Hospital, Stanmore. He leads a clinical research team and is currently an investigator for several research studies to evaluate new treatments for bone conditions, including FOP. As a child, what did you want to be when you grew up: A policeman Your go-to comfort-binge TV show: The Big Bang Theory Your guilty pleasure: Champagne The trip you most want to take, but haven’t yet: British & Ireland Lions Rugby Tour Dr. Judith Bubbear Dr. Bubbear is a Consultant Rheumatologist with a special interest in Metabolic Bone Disease. She was a Consultant at Barts Health for 7 years from 2010 and was appointed as a Consultant in Metabolic Bone Disease at the Royal National Orthopaedic Hospital in 2017. She runs clinics for patients with Osteoporosis and Metabolic Bone Diseases at the RNOH. The metabolic diseases she has an interest in include CRMO/SAPHO, Fibrous dysplasia, Fibrodysplasia Ossificans Progressiva, Hypophosphatasia, Osteogenesis Imperfecta, Paget’s disease, Vitamin D deficiency and X-linked hypophosphataemic rickets. When not working she is mostly to be found running or

singing. As a child, what did you want to be when you grew up: Aged 4, I told my mum I wanted to be a nurse, but by age 8 I knew I wanted to be a doctor after a science teacher showed us models of the skeleton Your go-to comfort-binge TV show: Love a good murder mystery – you can’t beat a bit of Poirot Your guilty pleasure: Eating chocolate in bed The trip you most want to take, but haven’t yet: Taking my family to Australia

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Martyn Dudley, CNS

Martyn is a Clinical Nurse Specialist in Metabolic Bone Diseases at the Royal National Orthopaedic Hospital. He has recently joined the Metabolic Bone team having previously worked

as a Rheumatology specialist nurse. He runs clinics and provides advice and support for patients with bone diseases including FOP. Martyn is passionate about his work and enjoys the opportunity working in a dynamic hospital such as the RNOH provides. He values the learning opportunities he gains from meeting with patients, especially those with rare conditions. In his spare time, he likes to read, take long walks and is a faithful supporter of West Ham United. As a child, what did you want to be when you grew up: An astronaut Your go-to comfort-binge TV show: Big Bang Theory or Friends Your guilty pleasure: Rom-coms The trip you most want to take, but haven’t yet: Bahamas Professor Fred S. Kaplan, M.D. Professor Kaplan is Chief of the Division of Molecular Orthopedic Medicine and co-director of the Center for Research in FOP & Related Disorders at the University of Pennsylvania. Fred grew-up in the little community of Highland Park, New Jersey where he attended public school. While in college, he majored in creative writing and thought he might want to be a journalist or TV weatherman. He rode horses, had lots of orthopaedic injuries, and gravitated towards all things musculoskeletal. During his residency, he developed an interest in metabolic bone diseases and was recruited to start such a division at Penn. That work attracted the attention of NASA where

he served on a commission to develop criteria for selecting astronauts to build and command the International Space Station. In 1988, Kaplan met a child with FOP and then things changed – dramatically! As a child, what did you want to be when you grew up: A weatherman Your go-to comfort-binge TV show: The Little Rascals Your guilty pleasure: Pecan pie The trip you most want to take, but haven’t yet: Back in time

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Robert J. Pignolo, M.D, PhD

Dr. Robert Pignolo, M.D, PhD is the Robert and Arlene Kogod Professor of Geriatric Medicine and Chair of Geriatric Medicine and Gerontology at the Mayo Clinic College of Medicine. He has

worked on basic science, translational, and clinical aspects of FOP for over two decades, first at the University of Pennsylvania in Center for Research on FOP & Related Disorders in Philadelphia, and now at the Mayo Clinic in Rochester, Minnesota. Major research areas include the natural history of FOP, drug discovery, mechanisms of lesion formation and repurposing of drugs for the treatment of FOP. He is currently the principal investigator of multiple FOP interventional trials at the Mayo Clinic. As a child, what did you want to be when you grew up: A writer Your go-to comfort-binge TV show: Shameless Your guilty pleasure: Häagen-Dazs Dulce de Leche Ice Cream

The trip you most want to take, but haven’t yet: The Ruins of ancient Egypt Dr. Eleanor Williams Ellie studied biochemistry at Oxford before doing her PhD at University College London, specialising in structural biology. She then returned to Oxford as a post doc at the SGC (now called the Centre for Medicines Discovery) where she began working on FOP with Alex Bullock and funded by FOP Friends. Over the past 11 years she has worked on understanding how protein that is mutated in FOP patients (ALK2) causes the condition. Recently Ellie has taken on a more senior role within the CMD, supporting the researchers more generally across the department. However,

the FOP community will always be close to her heart. As a child what did you want to be when you grew up: First an accountant...then a medical doctor before finally deciding upon becoming an astronaut as a mission specialist! Then my knees got too creaky at the grand old age of 17 so I decided I wanted to be a biochemist instead. Your go to comfort binge TV show: I love all things sci fi so my comfort TV are things like Star Trek, anything from the Marvel Cinematic Universe (but particularly Captain America the Winter Solider or Captain Marvel), or Avatar: The Last Airbender (This is really hard! How do I choose?) Your guilty pleasure: Bath bombs and long hot soaks in the tub. Trip you want to take but haven't yet: Either Northern Canada or the Northern Lights.

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering

Speaker Biographies, in order of presentation Karen Kirchhoff, MSPT

Karen Kirchhoff joined the IFOPA in 2019 and runs the Ability Toolbox program working to promote problem-solving and independence. Karen also manages the Elaine & Harold Kaplan

Quality of L.I.F.E. Awards. Karen brings a great range of experience to this role with more than 18 years in direct paediatric therapy, parent education and training, coordination of services and client case management. For the majority of her career, she worked as a physical therapist, family service coordinator and program evaluator. Karen has a bachelor's degree in education and a master's degree in physical therapy. She enjoys helping people and is excited to develop relationships in the FOP community to ensure more access to care and support. As a child, what did you want to be when you grew up: To run a B&B Your go-to comfort-binge TV show: 20/20 Murder shows Your guilty pleasure: Long hot showers or bubble baths (like REALLY LONG!)

The trip you most want to take, but haven’t yet: The Amalfi Coast, Italy

Hope Newport, CCLS Hope began her role as the IFOPA Family Services Manager in 2018. She holds a master’s degree in Human Development and Family Studies and is a Certified Child Life Specialist. She has experience working with families dealing with chronic conditions from her tenure at The Hole in the Wall Gang Camp and the Down Syndrome Guild of Greater Kansas City. During her time at The Hole in the Wall Gang Camp, an organization which helps families cope with serious illnesses,

Hope developed the CampOut program to provide families with the camaraderie and normalizing activities of summer camp throughout the year. Hope tailored events and home visits to suit each camper's, sibling's and parent's needs. In her role as Family Services Manager with the IFOPA, she collaborates with families affected by FOP to create programs, services and educational opportunities for the FOP community. As a child, what did you want to be when you grew up: A marine biologist Your go-to comfort-binge TV show: Parks and Recreation Your guilty pleasure: Gummy bears The trip you most want to take, but haven’t yet: New Zealand and Australia

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering Assisting you today

Rachel Almeida I’m Oliver’s auntie and proud to be one of the founding trustees of this fantastic charity. I am Head of Events and Training for an education organisation and mum to three lovely, energetic

boys - Ben, Jacob and Sam. When I'm not running around after the boys or working, I enjoy running and last year I completed my first marathon in Manchester, raising funds for the charity. It was an amazing experience and one of my greatest achievements. I'm looking forward to seeing old and new faces at the conference this year and hearing about all the progress being made, bringing us all closer to the successful treatment and cure for FOP. Alison Acosta Bedford I am Oliver’s auntie, although he still calls me Mummy Al! As one of the founding trustees, I am proud to have been on this journey from the beginning. I am mum to Eddie 12 and Elise 9. Oliver

and his brothers are a huge part of our lives, and I love how close they are to their cousins. I am so proud of what the charity has become, especially for the support it provides families affected by FOP. These are hopeful times for everyone who is closely affected by FOP and, as trials and ongoing research progress, the reality of a treatment and a cure for my not-so-little nephew gets ever closer. For me, that day can’t come soon enough! Helen Bedford-Gay I’m the proud mum of Oliver, and of Leo and Harry who are equally awesome! I am the ‘behind the scenes’ person for the charity – everything from the website and book writing, to stuffing envelopes and waiting in line at the post office! I can’t believe we are celebrating our 10th year as a charity – we have had the opportunity to meet the most wonderful people on this journey. We have so many happy memories, but have also had many heart-breaking and dark times along the way too. But hope is on the horizon and that’s what drives us. In addition to my charity work, I have been given the opportunity to return to one of my passions: teaching. It’s only part time, but it allows me to return to what I always thought would be by forever-job, until life threw us a curve ball. I continue to be delighted by how my boys are growing up and enjoy celebrating their successes. We’re looking forward to our summer US road trip which will give us a much-needed break as a family. And the added bonus...we get to meet more of our FOP friends along the way!

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering Assisting you today

Nicky Muller My eldest daughter Isla was diagnosed with FOP as a baby. Isla is now 8-years old and despite many mobility restrictions, lives life to the full. I am continually in awe of her spirt and her

achievements, perhaps never more so than when she performed a hula-hoop gymnastics routine last year. Isla is also a fabulous big sister to Hettie who is 3. After coming to terms with the initial shock of diagnosis, I began fundraising to help the search for treatments and support other families, sharing our experiences to help them navigate their own paths. Along with my network of friends and family, I continue to raise funds in aid of FOP Friends as well as vital awareness: I’ve run many a race and taken part in too many challenges to count! I work as a Marketing Manager for Avaya and have been able to use my business contacts to gain support for the charity. When I’m not working, I love spending time with our wonderful family. We love to travel and enjoy the outdoors – and there are always plenty of smiles when we’re together. Fiona White As a close friend of the Bedford-Gay family for many years, I was devastated to learn about their son Oliver’s condition. I became a trustee of FOP Friends in 2013 to be part of the journey, searching for a treatment and cure for FOP. It is amazing to witness how the charity has grown and supported families over the years, leading to a strong FOP community. As a senior lead teacher working in a primary school, I use my professional skills to help FOP Friends. I have run the creche at our past three Family Gatherings and am unbelievably honoured to be running the ‘Friends Zone’ at our 4th conference. Being part of the children’s journey and experiences,

watching them grow, adapt, and show tremendous resilience, is so special. Being a trustee of FOP Friends as it celebrates its 10th anniversary, means a great deal and I am excited to see what the future holds.

Supported by: The Zochonis Charitable Trust

Conference and Family Gathering Assisting you today

Hannah Dempsey I completed my undergraduate and master’s psychology degrees in 2017 and 2018 respectively. Whilst at university, I completed an internship with FOP Friends, which led me to working with

the charity until 2019 and inspired me to pursue my psychology career further. To support my pursuit, I have completed a variety of other jobs, including a Support Worker for children with additional needs; a Wellbeing Worker at Rochdale Mind’s NHS-funded crisis cafe; and have worked for two and a half years as an assistant psychologist, previously assisting individuals with autism and/or learning disabilities, whilst currently working on a community neuro-rehab team. Although my career has taken me in a new direction, FOP Friends remains close to my heart. I did the Manchester 10k last year to raise money for the charity, and I am thrilled to be back today to catch up with everyone.

Janet Plumb I have been a friend of Oliver and his family for so many years now. I made him a cushion (which I believe he still uses to this day!) when I read a story about him in our local paper and the rest, as they say, is history. I have had the pleasure of being a part of the creche at the FOP Friends’ conference since the very beginning. It has been a joy and an honour to watch the children grow up. I have now retired from childminding although I am still as busy as ever! I am one of the founding members of the Friends of Moor Nook Park, and help to arrange events to raise funds to improve the local park. We hold an annual apple festival which is a wonderful community event, and we have also planted our own orchard to hopefully supply the festival with apples in future

years. I continue to enjoy my sewing and am an active member of our local Women’s Institute. I’m excited to be back with the children and families today to make more creative mess and memories!

Supported by: The Zochonis Charitable Trust

FOP Research Update from Dr Ellie Williams Spring 2022 Introduction FOP is caused by a small change in a single protein in your body. This protein is known as ACVR1 (or sometimes ALK2). Normally

this protein is involved in making bone in the right places at the right times, and in response to the correct signals from the rest of the body. The FOP mutation causes ACVR1 to respond to the wrong signals at the wrong times, causing bone formation in the wrong places. The way ACVR1 works is by adding what we call a phosphate group to another protein (called SMAD1) to switch it on. SMAD1 then goes on to activate other processes that ultimately lead to bone formation. This is like adding a stamp to a letter that would allow it to be posted with ACVR1 acting as the stamping machine. In FOP this stamping mechanism is switched on not only by the usual signals that are used to generate bone but also by other signals that are usually involved in cell division and not bone formation. This cross talk is a major contributor to FOP. One major focus of our work has been on trying to find something that could be used as an ‘inhibitor’ of ACVR1 – something that would bind to the main binding site of ACVR1 and stop it stamping it’s activating signal on SMAD1, and hopefully thus stopping the mistaken ‘make bone’ signal from being passed before it could get to the point of actually making bone. One complication with trying to find an inhibitor to bind to the main site of ACVR1, is finding something that will stop, or inhibit, ACVR1 from working but not affect any of the very similar proteins that exist in your body. These other proteins are responsible for things like muscle formation and normal cell growth so it’s really important to be selective. We have been looking at and testing hundreds of inhibitors to try and find ones that could potentially become safe medicines. Quite often the inhibitors we look at in the lab seem to be very effective at stopping ACVR1 selectively, but may have side effects when taken by a person. They need modification to make them safe enough to be taken as a medicine by a patient. This can be a very difficult step and is sometimes even impossible, so finding several options that could be developed and made safe gives us the best chance of success for FOP patients.

Saracatinib: There is however another approach that we’ve taken to searching for an inhibitor that might work against FOP. Many inhibitors are developed by companies and go through a series of stages of trials to make sure they’re both safe and effective. A phase 1 trial is where a potential medicine is tested in healthy volunteers to see if it’s safe before being taken to a phase 2 trial in a small group of patients to see if it actually works. Some medicines make it through phase 1 (they’re safe) but fail at phase 2, potentially meaning that the therapeutic hypothesis was wrong often due to a lack of disease understanding. Part of our work looked at screening a library of these ‘clinical medicines’ that were shown to be safe but didn’t work for their original indication. As part of this we identified an inhibitor called ‘saracatinib’ that showed very good safety data but didn’t help in the cancer it was originally targeted at. Saracatinib was originally designed to inhibit two proteins called Src and Abl which are both in the same protein family as ACVR1. As well as inhibiting Src and Abl, saracatinib bound to ACVR1 just as well and warranted further investigation. We looked at exactly how well it bound and what happened when you added Saracatinib to cells that we use to model FOP in the lab. This all looked very promising in stopping the aberrant signalling seen in FOP on a single cell scale, and so we worked with a collaborator to test saracatinib on mice used to model FOP. This also gave promising results in stopping bone formation occurring under circumstances where FOP bone growth would otherwise be seen. Crucially this means that this is an inhibitor which seems to stop FOP bone formation in our

experiments that has already been shown to be safe when taken by people. This means that saracatinib would be able to go straight into phase 2 trials in FOP patients to see if it actually works in treating the condition.

STOPFOP: From all this, the STOPFOP trial started in early 2020, looking to test whether saracatinib was able to treat FOP in patients. It is expected to run for 3 years however due to the pandemic there have been delays and so results are not

expected to be released from the trial for a few years more.

A second binding site: Meanwhile, back in the lab we’ve been planning our next steps to see if we can make something even better. The failure rate in making a new medicine is over 90%. Therefore, we’ve been looking at alternatives and new approaches to treat FOP. One option we’ve been exploring recently is to see if we can find a second binding site somewhere else on the protein that might let us find an inhibitor that binds better

to ACVR1 than to the other proteins. The idea is to find a second site unique to ACVR1, with other proteins either lacking this second pocket completely or where the second pocket is such a radically different shape that any inhibitor we find for ACVR1 won’t fit inside any other proteins. This second site forms our wrench binding site. Molecules binding here would stop the ACVR1 protein from switching ON. One challenge is that the second pocket isn’t well studied at all as it isn’t the key part of the stamping mechanism, and so finding a basic starting point is one of the big issues to tackle. One way we’ve been looking at this is through a method called ‘fragment screening’. Instead of taking large molecules and seeing which ones fit most exactly or not at all, we instead take very small molecules and see if they bind to any part of the second site. On their own they won’t bind that tightly or that specifically, but these small fragments give us a starting point for building

Figure shows a 3D structural model of the ACVR1 kinase domain.

something bigger and better. This puzzle piece approach means we don’t need to search through thousands of large compounds looking for something that fits in all the nooks and folds of the second pocket, but instead can look at a much smaller number of building blocks which will fit inside these spaces much more easily. We can then look at joining them up or building out from them to make a more complex and useful molecule that might work to switch off ACVR1 and not any other protein. After testing over a hundred fragments, we found several that bind in various places across the protein and of those, one that binds in the second pocket. This gives us a starting point to build out from to try and develop this fragment into a strong inhibitor. With two approaches to developing new inhibitors against ACVR1, we can learn more about how the mutation causes FOP and better understand how we can use that to try and develop new medicines. For a more detailed update on the team at Oxford, visit: www.fopfriends.com/oxford

Rhythms & Routines: 10 Things I’ve Learned By Sharon Kantanie from kindnessmatters50.com/blog

Sharon is one of our FOP friends and lives in Tennessee, USA. She lives with FOP and has been a source of friendship and support for so many, the world over. She has a passion for all things creative and

loves to card-make. Sharon was the editor of the ‘What is FOP? A Guidebook for Families’ which is an invaluable resource for every family. Here, Sharon reflects on her life with FOP and the little things she has done to make things better. First, there is no one-size-fits-all solution to life with FOP. Families live in different circumstances with different resources. These are 10 things I’ve learned through the years that help me and my family cope and make living with a difficult condition a bit easier. 1. Help: Many of the things I do require help from others. A few things can be done independently, such as using the TV or the computer. Over the years, I’ve figured out that sometimes I’m better off letting others help me more because it allows me more time to do the things that I enjoy. That’s a place where we each have to figure out which approach works best for us. Another useful thought is remembering that, no matter how dependent I am on others, help can still be a two-way street. I try to make a special effort to help others in ways that I can: computer help, learning more about a topic and then teaching it, etc. 2. Schedule flexibility: I find that I work best when I have a schedule, but also schedule some built-in flexibility. 3. Space and “free time”: I find that my family works best when we all get some space to enjoy different things. That’s been harder during Covid-world, but we try. One thing that really helped a lot was when we took the big step of getting a part-time caregiver so my parents could have more free

time. It’s been helpful for me as well because it gives me someone outside of my family to whom I can relate. 4. Change is necessary, but not all changes are inevitable: When I was growing up, my family had no idea what to expect from FOP because we didn’t know other families who lived with my condition. Looking back, there are things we could have planned for better if we had known what the future might have held. One-storey homes are awesome. Ways to avoid stairs are extra awesome. Roll-in showers are really nice. But you can’t predict everything that will happen. Don’t try! 5. Be okay with plans not working out and look for the good in some of the most difficult situations: If you are going through a really tough time, name 1-3 things each day that you are grateful for. I like to think of this as the “silver lining” rule. For example, all of my favourite people are people I wouldn’t have met if I didn’t have FOP. And I’m fairly certain that I’m a stronger and more empathetic person because of FOP. 6. Embrace the place where you are even when it turns out differently than you expected: When I was in my 20s, I pictured myself working full-time in a job I loved. Once my elbows became fused, it became more difficult to pursue my chosen career of teaching. Anyone who knows me will tell you that I always find plenty of things to do now—even though I spend most days at home. I have a better balance of different things in my life too. 7. This one is in honour of dads. Duct tape can solve everything! Well, not everything, but I use it every day when I brush my teeth and it was used for my original extension fork when I woke up and couldn’t bend my arm. It’s an example of how special tools don’t have to be fancy or expensive. 8. It will likely take longer than you think: I’m notorious around here for underestimating how much time it will take to do something. Maybe that happens to you too—in lots of little and big ways, from how long it takes to do a seemingly simple thing to how long it takes a flare-up to resolve. 9. Sometimes you have to invent new guideposts and change things up when old ways aren’t working. 10. Show love, kindness, gratitude, and grace whenever possible: It’s hard being dependent on others, and it’s hard on others for us to be so dependent on them.

The Places You’ll Go, Rare Disease Edition By Denise Crompton Today is your day to breathe very deep. This is not a nightmare. You are not asleep. Oh, the places you’ll go, now that you’re aware There’s travel involved when conditions are rare. To a specialist doctor who is far away, But might have some answers, you’ll travel one day. The process of intake will tax your poor brain, As you try to give details again and again. Oh, the terms you will learn, as you go to and fro From office to office of doctors who know. And the things that you’ll see when you go to PT, Like braces and crutches and more in OT. You’ll see rods and wires and wheelchairs, too And strange looking things that must be new. Oh, the things that can happen, and frequently do When you mix up the terms that are so new to you. But those medical terms that were so hard to say When you started out here, will be easy someday. Oh, the way that you’ll feel once you find the others Who share your condition like sisters and brothers You’ll be part of a group with whom you can share

You’ll know that, though rare, you needn’t despair. You will get together with similar folk Who’ll help you raise funds to give you some hope While you’re looking for answers here and there, Hospitals, medical centres and just everywhere. Yes, acceptance is hard as you learn how to deal And reach out to others who know how you feel

There are times you will cry and wish it weren’t so,

But you’ll learn to be strong in those places you’ll go.

Hobbies and Pastimes We asked some young people who are living with FOP, how they like to spend their free time. You may be surprised at the answers we received...but then again, maybe you won’t! Our kids with FOP are amazing!

archery

beach

gaming and YouTube

Lego

nature walks

Scuba diving

arts and crafts

biking and triking

gardening

making music

swings

sledge-hockey

baking

dancing

GoKarting

modelmaking

reading

swimming

baseball

football

horse-riding

movies

Scouts

watching the game

Dual Deprivation: Understanding the Psychological Burden that Coexists with the Physical Struggles in Individuals with Rare Diseases and their Caregivers In October 2019, FOP Friends was paired with Sandy Ayoub from St. George’s University, London. Sandy was looking to study what impact living with a rare genetic condition, such as FOP, has on the mental wellbeing of both the patient and their caregiver. Sandy worked closely with one of our FOP families. She also researched the mental health issues of patients where the issues are not a primary manifestation of their rare disease. We were honoured to be able to work with Sandy as we are painfully aware of the challenges most of our families face when living with the cruelty and uncertainty of FOP. This was great opportunity for FOP to have a raised profile within both the rare disease community, but also with the next generation of medical professionals in the UK and beyond. Sandy was awarded runner up in The Student Voice Prize 2019. We thank her for taking the time to learn about FOP, and wish her every success in her future career.

Abstract I was fortunate enough to gain an insight into what a life with a rare progressively disabling genetic condition entails. Initially fascinated with the genetics and biological mechanisms of the condition and astounded with the physical ailments the patients affected face, I soon realised this is only the tip of the iceberg. A significant number of patients with rare diseases and their caregivers face constant difficulties with their mental health, which are unfortunately often overlooked. Though this could be partly blamed on biomedical dominance, the rare nature of these conditions often mean that physical symptoms are not adequately addressed. As doctors and medical professionals, we want to fix people, after all it is our duty. When we feel this is beyond our capabilities, we almost intrinsically dismiss that patient from our thoughts, somewhat as a coping mechanism so as to not feel like we are failing. We rationalise this by telling ourselves that everything must have been tried already, when in reality there is always a strategy that could be implemented. It is

indisputable that these patients require more from us to enable them to navigate the physical and psychological struggles they face. There is a need to raise our sensitivity to all aspects of their care to allow better detection of problems and to deliver the holistic care we would one day hope to receive.

Dual Deprivation: Understanding the Psychological Burden that Coexists with the Physical Struggles in Individuals with Rare Diseases and their Caregivers I was introduced to SR (pseudonym), an 18-year-old young man, and his mother NH (pseudonym) through FOP Friends1; a charity that supports research into Fibrodysplasia Ossificans Progressiva (FOP). FOP is an ultrarare progressively

disabling genetic condition affecting 1 in 2 million people. With FOP, connective tissue such as tendons, ligaments, and muscles gradually turn into bone. The condition usually manifests in childhood and those affected often describe it as

having a healthy mind locked inside a frozen body. They live their lives fearful of minor injuries or infections, which are

known to trigger flare ups. They suffer from skeletal deformities, stiffness and chronic pain; all of which seriously impact their quality of life. The specific pathogenesis of FOP is not well understood and there is no effective treatment, though medications are available for symptom relief. Sadly, the average life expectancy is around 40 years2. SR and NH discussed several barriers to accessing services and how it fell to NH to coordinate her son’s care. She spoke about her difficulties navigating the healthcare system, often getting no responses from service providers or having to travel several miles for specialists’ input. Regarding consultations, they felt information was seldom shared effectively between specialists and local services. “Even if they are, sometimes they don’t bother reading his file”, she explained. She highlighted her relentless fights for funding, in an increasingly stretched NHS, whether this is for SR’s personal care, mobility, or off-label use of drugs in attempts to alleviate his symptoms. This was only exacerbated during his transition from paediatric-centred to adult-oriented care. It was evident that there was a lack of a holistic patient-centred approach to SR’s management. Though biomedical dominance is partially to blame, the rarity of FOP means that inadequacies are felt even with the management of physical symptoms. The chances of coming across a patient with FOP are admittedly extremely low, but rare diseases as a collective are common. Nearly 8000 rare diseases have been identified, affecting an estimated 1 in 17 people3. Therefore encounters such as this in one’s medical career are inevitable. Clinical presentations certainly differ, but the emotional burden they pose on individuals and their caregivers is comparable. I will attempt to highlight key lessons I have learnt from SR and NH, taking into account discussions I have had with a number of medical personnel and the FOP Friends charity. The demoralised patient FOP creates pain and pain is demoralising. It creates disability, bodily disfigurement, social isolation, a medium for being bullied, feelings of dependency, perceptions of being a burden – all of which are also demoralising. The susceptibility to demoralisation differs between people, but even the most resilient have their breaking points. Demoralisation in patients with rare diseases seems to encompass the fundamental psychological elements of disempowerment and subjective incompetence, for example through the inability to function at one’s previous or expected level. It creates a sense of futility through knowing their medical situation and by virtue the functional implications are never going to convalesce. Consequently, patients feel hopeless and helpless4,5. It is vital to make the distinction between demoralisation and depression. Though similarities exist including disturbances in appetite, sleep, energy levels, and even suicidal ideations, in demoralisation there is usually preserved responsivity of mood. That is as adversity ceases, the patient’s capacity to feel enjoyment and to hope is quickly restored. This is not to say that demoralised patients cannot develop depression and/or anxiety. 69% of rare disease patients in the UK reported depression while 82% reported anxiety and stress6. Unlike depression, however, demoralisation fails to show sufficient improvement with antidepressants. Instead, demoralisation is best tackled through mitigating the patient’s physical or emotional stressors as well as fortifying their

resilience. With chronic conditions, demoralisation often lessens as novel management plans are delineated and symptoms are actively managed. With terminal conditions, demoralisation can be diminished when the patient believes their doctor understands their concerns, acknowledges their suffering and is capable of addressing their problems.

Exploring attitudes towards hope and meaning in life, fostering search for a renewed purpose, and using cognitive

behavioural therapy to reframe negative beliefs can be valuable. Some may additionally benefit from spiritual support or family meetings to enhance family functionings7,8. During SR’s last rheumatology review, he was told “there is nothing more I can do”. The demoralised patient needs a physician who perseveres, as Cassell9 puts it “there is never a time when nothing can be done.” Caregivers need care too As a single parent of two, NH serves as SR’s primary caregiver. During our conversation, she emphasised the daily stress and frustration she faces and the need to always “try and hold it together”. This is compounded with the continuous need to advocate for her son to receive the care he deserves. Although recently matters have improved for FOP patients and

their families in the UK through the development of a FOP team at the Royal National Orthopaedic Hospital (RNOH) in London, the reality is, due to financial, logistical or pain issues, help is not always sought. It becomes somewhat of a postcode lottery. Even if patients are seen by specialist services, care is not “joined up” and referrals to various services tend to be ad hoc as issues arise, not through regular arrangements. A multidisciplinary team (MDT) approach can combat this issue. Regular meetings between various medical and non-medical personnel to review patients can ensure everyone gets equal access to services. Though patients differ, lessons learnt from one patient can be applied to another. NH’s duties entail coordinating her son’s numerous and multifaceted needs, sacrificing hers in the process. As a parent, it is heart-rending to watch your child suffer whilst feeling like there is nothing more you can do. It is extremely distressing

to think about the future; not knowing whether being a caregiver is a role which will span the course of your child’s life or your own. The agony of dealing with your child’s death versus the hardship your death will bring to your child. There is guilt over how well you are meeting the needs of other family members. This unfortunately translates to using respite hours to care for them instead of yourself. Sleep deprivation, chronic fatigue, and aches and pains are just some of the physical consequences. Life is anxiety-ridden, your control of day-to-day events lost, and your ability to provide for your family diminished. Sadly, NH is not alone; 65% of rare disease caregivers in the UK reported they experienced depression while 88% reported anxiety and stress6. What we as doctors or medical professionals can do to alleviate the heart-break caregivers experience is arguably very minute, but we need to exhaust all options, using a biopsychosocial approach, to make a difference. From boy to man: transitioning from paediatric to adult-oriented care The chronic nature of FOP, like many rare diseases, means that continuity of care is essential in minimising complications and improving outcomes. Therefore, structured transition programmes aimed at effectively moving young adults, such as SR, from paediatric to adult services are crucial for closing gaps in care. It also diminishes loss of access to allied healthcare professionals previously available to patients, and reduces loss to follow-up rates. We must address additional issues that arise from adolescence including susceptibility to mental health deterioration, independent health care behaviour, self-advocacy, self-esteem, sexual health, and advice on education and vocational planning.

Final thoughts I was privileged enough to be exposed to what is a snippet into the lives of FOP families. Though there are a number of

issues that need addressing, it is important to acknowledge the incredible work done by the FOP team at RNOH, FOP

Friends, GPs, local services, etc. Picker Institute nicely summarises patient-centred care into eight principles10 which are seen as integral parts of providing high-quality healthcare. Those include: (1) respect for patients’ values, preferences and expressed needs, (2) coordination and integration of care, (3) information, communication and education, (4) physical comfort, (5) emotional support and alleviation of fear and anxiety, (6) involvement of family and friends, (7) continuity and transition, and (8) access to care. Upon reviewing these principles, it becomes apparent why SR and NH felt their care was inadequate. When considering the different ways rare diseases can impact affected families, it is not surprising that they encounter problems with mental health. It is almost irrefutable that additional resources are required to enable them to navigate

the physical and psychological struggles they face. Acknowledging suffering, understanding concerns, helping coordinate care, allowing for respite care for caregivers, ensuring a smooth transition to adult services are some of many strategies we can employ. Towards the end of our conversation, I thanked NH for sharing her story with me. I remember saying: “He’s very lucky to have you”. Her response shocked me, I could hear her voice break, “You’re going to make me cry!” she replied. Of course SR is very lucky, simply acknowledging that helped build rapport between us. Sometimes all you need to do is be human!

References 1.

FOP Friends. FOP turns children into human statues. http://fopfriends.com/fop-friends. Published 2019.

Pignolo RJ, Bedford-Gay C, Liljesthröm M, et al. The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment. J Bone Miner

Res. 2016;31(3):650-656. doi:10.1002/jbmr.2728 3.

Genomics England. Rare disease genomics. https://www.genomicsengland.co.uk/understanding-genomics/rare-disease-genomics/. Published 2019. Accessed November 7, 2019.

Sansone RA, Sansone LA. Demoralization in patients with medical illness. Psychiatry (Edgmont). 2010;7(8):42-45. https://www.ncbi.nlm.nih.gov/pubmed/20877533.

Kissane DW, Clarke DM, Street AF. Demoralization Syndrome — a Relevant Psychiatric Diagnosis for Palliative Care. J Palliat Care. 2001;17(1):12-21. doi:10.1177/082585970101700103

Shire. Rare Disease Impact Report: Insights from patients and the medical community. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf. Published 2013. Accessed November 12, 2019.

Griffith JL, Gaby L. Brief Psychotherapy at the Bedside: Countering Demoralization From Medical Illness. Psychosomatics. 2005;46(2):109-116. doi:https://doi.org/10.1176/ appi.psy.46.2.109

Lavney PHRS. Diagnosing Demoralization in Consultation Psychiatry. 1999;40(4):325-329. doi:10.1016/S0033-3182(99)71227-2

Cassell EJ. The Nature of Suffering and the Goals of Medicine. Vol 19. Oxford University Press; 2004.

10.

National Center for Interprofessional Practice and Education. Picker Institute Eight Principles of Patient-Centered Care. https://nexusipe.org/informing/resource-center/pickerinstitute’s-eight-principles-patient-centered-care. Published 2015. Accessed November 13, 2019.

Acknowledgments I would like to thank SR and NH for allowing me to share their story through my own outlook, and Mrs Helen Bedford-Gay, Dr Richard Thompson and Dr Lucy McKay for their help in introducing me to SR and NH. I would like to acknowledge Dr

Judith Bubbear, Dr Ben Janaway and Dr Carys Mangan for their input on the case.

We would like to thank the following companies and organisations for their support:

The Zochonis Charitable Trust

We would also like to thank the following friends who have volunteered their time this weekend to make this Conference and Family Gathering a success: Clinical Host: Nicola Toop

FriendZone: Janet Plumb, Gillian Hodgson, Cath Boughton, Deb Sandison

Evening Host Andrew Chilton