Plain language summary of the outcomes from the first Rare Bone Disease Summit: current challenges and priority actions

Plain Language SummaryWhat is this summary about?Rare bone diseases are uncommon medical conditions that primarily affect the bones, cartilage, and muscles of the musculoskeletal system. People living with these rare conditions face challenges such as delays in diagnosis, limited accessibility to rare bone disease medical experts, difficulty communicating with healthcare professionals, and limited treatment options. The Rare Bone Disease Summit brought together people with a personal and/or professional interest in rare bone diseases to discuss and propose actions to address the current biggest problems faced by people living with these conditions.The Rare Bone Disease Summit was held online over two days in December 2021 with 65 attendees from across the world. These people represented patient advocacy groups, medical and scientific organizations, medical education providers, healthcare professionals, and scientific experts from the pharmaceutical industry.How to say (download PDF and double click sound icon to play sound)…Musculoskeletal system: MUS-kuh-low-SKEH-luh-tuhl SIS-tuhmFibrodysplasia ossificans progressiva: FYE-broh-dis-PLAY-zhuh OSS-if-ih-kans pro-GRESS-ih-vuhHypophosphatasia: HY-poh-FOSS-fuh-TAY-zhuhOsteogenesis imperfecta: OSS-tee-oh-JEN-uh-sis im-purr-FECK-tuhAchondroplasia: AY-kon-druh-PLAY-zhuhFibrous dysplasia: FYE-bruhs dis-PLAY-zhuhWhat are the key takeaways?Discussions during the Rare Bone Disease Summit identified key bottlenecks that arise when trying to treat people with rare bone diseases, such as It can take a long time to diagnose rare bone diseases correctly and get a patient connected to the right medical care.There are relatively few rare bone disease medical experts worldwide compared with the number of dedicated healthcare professionals in other areas.When people with rare bone diseases grow older, there is not enough support available to help with the changes that come with the transition from pediatric to adult and/or adult to geriatric care.Cultural differences, language barriers, and stigma can make it harder for people with rare bone diseases to get appropriate care. Patients, caregivers, and healthcare professionals often find it difficult to communicate well with one another.Short- and long-term actionable goals to overcome these barriers were identified across four priority areas for action: Improve awareness and educationUse digital health toolsEnhance cooperation and sharing of information within the rare bone disease communityFacilitate guideline development for diagnosis, care, and treatmentWhat is the musculoskeletal system?The musculoskeletal system includes all bones, muscles, cartilage, and joints in the human body.The Rare Bone Disease Summit was the first meeting of its kind and showed the importance of bringing together different groups of people with their unique experiences when addressing unmet needs of patients and anyone involved in the care of someone with a rare bone disease.The Rare Bone Disease Summit presented a plan for next steps, with short- and long-term actionable goals, that can be driven forward by all participants and the organizations they represent. Further, this plan creates a baseline against which subsequent Rare Bone Disease Summits can measure progress and identify areas where more attention is needed.Rare bone diseases: Uncommon medical conditions caused by inherited genetic changes in the DNA (genetic information within each cell; the basic units of the body) or that are acquired and manifest later in life. These can result in abnormal bone growth, shape, and/or structure that can cause pain, reduce a person's ability to move freely, and/or negatively impact a person's quality of life.Healthcare professionals: People who work in healthcare and are trained to provide medical care or support. Healthcare professionals include doctors, nurses, therapists, or others who are involved in caring for an individual’s health.Summit: An event where experts in the same topic(s) discuss and exchange ideas; summits often involve people in leadership positions gathering to make decisions and/or recommendations for action.Patient advocacy groups: Organizations created to represent and support people living with a certain disease and their families/ caregivers. These organizations ensure that patients and their families/caregivers have the information that they need to make informed decisions regarding their health, either independently or with their healthcare providers. Many patient organizations also raise awareness of specific diseases, with the aim of improving patients’ access to treatments and medical expert care.Medical and scientific organizations: These groups represent healthcare professionals and/or scientists who work in a specific disease area. These networks often share information, collaborate on research, and work towards improving the care of people with a specific disease.Medical education providers: People and organizations that provide training and information to healthcare professionals to make sure they have the knowledge and skills necessary to provide quality medical care.Pharmaceutical industry: Companies that discover, develop, produce and sell medications to help treat or cure diseases.Pediatric: Medical care that focuses on the needs of children younger than 18 years of age.Geriatric: Medical care that focuses on the needs of elderly/older adults.Stigma: A set of negative beliefs or attitudes about someone based on their characteristics or a condition, such as a rare bone disease.Caregivers: Family members, friends, or professionals who provide care and support to other people due to illness, age, or other conditions.Digital health: The use of technology, such as smartphones, computers, and the internet, to improve healthcare. This technology can come in many forms, such as health apps or wearable devices, but the common aim is to help people monitor their health and improve access to health information.Guidelines: Expert advice about the best way a disease should be diagnosed, managed and/or treated. Developing treatment guidelines is important to make sure that patients receive consistent and effective care.Unmet need: Lacking something that is required to optimize quality of life.This is an abstract of the Plain Language Summary of Publication article.View the full Plain Language Summary PDF of this article to read the full-textLink to original article here

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