Parent-authored memoirs: Lessons in the practice of narrative medicine.

Healthcare professionals, including practitioners of medical genetics and genetic counseling, have much to learn about the experiences of parents who are raising and caring for a child with a rare disease or developmental disability. Knowledge and understanding of the challenges in the care of a child with conditions such as Down syndrome and Wolf-Hirschhorn syndrome are at the core of the practice of genetic medicine. Insights into this experience can come from active listening to stories and from deep reading of memoirs and narratives authored by parents of children having these challenges. A recent book, Raising a rare girl: A memoir, by writer, poet, and teacher, Heather Lanier, represents a relevant and prototypic example of this genre. Spending the effort in the contemplation of the parental stories provides a valuable lesson in narrative medicine and the experience of empathy for the plight of the family.

Deep Gluteal Syndrome: A Pain in the Buttock.

ABSTRACT: While buttock pain is a common complaint in sports medicine, deep gluteal syndrome (DGS) is a rare entity. DGS has been proposed as a unifying term referring to symptoms attributed to the various pain generators located in this region. While not all-inclusive, the diagnosis of DGS allows for focus on pathology of regionally associated muscles, tendons, and nerves in the clinical evaluation and management of posterior hip and buttock complaints. An understanding of the anatomic structures and their kinematic and topographic relationships in the deep gluteal space is pivotal in making accurate diagnoses and providing effective treatment. Because presenting clinical features may be unrevealing while imaging studies and diagnostic procedures lack supportive evidence, precise physical examination is essential in obtaining accurate diagnoses. Management of DGS involves focused rehabilitation with consideration of still clinically unproven adjunctive therapies, image-guided injections, and surgical intervention in refractory cases.

Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.

There is limited research which examines health concerns of individuals with osteogenesis imperfecta (OI). Discussion groups with leaders of the adult OI community identified a broad range of medical priorities beyond fractures and brittle bones. Our work underscores the need to include patient-reported outcomes in rare bone disease research. INTRODUCTION: Osteogenesis imperfecta (OI) is a rare genetic disorder affecting collagen protein leading to brittle bones and a number of other medical complications. To date, there is limited research which examines the life-long process of aging with this rare disease, much less the perspective of individuals with OI. METHODS: In order to explore and prioritize health concerns that adults with OI feel have been inadequately addressed in health care and research, investigators held discussions with leaders from the global adult OI community. The meetings were held in August 2017 at the 13th International Conference on OI in Oslo, Norway as part of the preconference seminar "Patient Participation in OI Research". Investigators were part of the Brittle Bone Disease Consortium (BBDC), a multicenter research program devoted to the study of OI, and their focus was on patient-reported outcomes (PRO). RESULTS: Participants noted that while fractures and brittle bones are the most common feature of OI, a number of body systems are under-studied in this disorder. They particularly emphasized breathing, hearing, and the effects of aging as primary concerns that researchers and physicians may not fully understand or address. Other areas included pain, gastrointestinal problems, mental health, nutrition, menopause/pregnancy, and basilar invagination. Participants also emphasized that they must be informed of study results. They underscored that outcome measures incorporated into future drug trials must look beyond fractures and consider the whole patient. CONCLUSIONS: This work will help guide the incorporation of PROs into the next phase of the BBDC Natural History Study of OI and underscores the importance of including PROs in the study of rare diseases.

Pediatric rehabilitation in children with rare diseases--preliminary report.

As consultants in rehabilitation medicine and pediatrics sometimes we realize that most of our patients and their families are left unsupported and alone in terms of rehabilitation therapy during the treatment of their primary disease. Probably we forget that rehabilitation should be an integral part of every treatment process. In the case of rare diseases, their basic treatment should be carried out in speciality facilities (speciality hospitals) where personel and equipment are able to run the most effective treatment. Rehabilitation medicine offers full range of cheap, non-invasive diagnostic tools. Well-chosen equipment can help with physical therapy and allow the independence of the child and full social integration. In an era of rapid change in civilization and progress of science, professionals use new technologies more often. This also refers to the field of rehabilitation medicine. Exoskeletons and lokomats created nowadays allow the use of new technologies in rehabilitation treatment processes. For specific disorders effective treatment may include even virtual reality (VR). Early initiation of the rehabilitation process can improve the therapeutic effects and the overall outcome of the treatment, identifying the needs and realizing the available goals of rehabilitation that could build the sense of safety in the family and enhance their trust in the therapeutic team.

A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.

De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic, and neurological anomalies are generally also present. This syndrome is rare and the complex therapeutic management, from a surgical but also rehabilitative point of view, has not been recognized. The aim of this paper is to describe a possible rehabilitative protocol, after an orthopedic surgical treatment, in a child with De Barsy Syndrome. A 6-year-old boy was born with a congenital bilateral hip dysplasia associated with bilateral congenital foot deformity (vertical talus). Moreover, he showed stereotypic dyskinetic movements and psychomotor delay with cognitive impairment and absent language; the sitting position was maintained with orthoses to support the trunk control and the standing position was not acquired. He was treated with pinstripe knee-highs for the foot and double nappy for the hips. At 19 months old, he underwent a two stage surgical approach for a bilateral pronated valgus foot with severe talonavicular subluxation. Satisfactory hip range of motion was achieved by conservative treatment alone. Afterwards, for the foot laxity and the flat-pronated foot corrective shoes were prescribed. The main rehabilitative goals were: attention improvement, visual exploration for foot-eye and hand-eye coordination, encourage the essential prerequisites of language, controlling the upright position using support, improving hip-knee-foot relationship, improving load transfer between the right and left sides of the body, and bimanual coordination. The rehabilitation process lasted six months, three times a week, for a time from 30 minutes to 60 minutes per session. The results were encouraging and the patient acquired the possibility of sitting with the indicated postural system, the possibility of assuming an upright position and taking a few steps with the aid of rollator with a postural stabilization system for the pelvis.

Physical symptoms in long-term survivors of rare cancer.

PURPOSE: Advances in cancer detection and treatment have resulted in a growing population of long-term survivors, but even years after treatment has concluded, many survivors report physical symptoms that interfere with daily living. While there are studies of late effects following common cancers, less is known about these complications in rare cancers. This study focuses on the physical symptoms reported by long-term survivors enrolled in the NIH-sponsored Rare Cancer Genetics Registry. METHODS: The Rotterdam Symptom Checklist-Modified was administered to evaluate the severity of physical symptoms commonly reported by long-term cancer survivors. Logistic regression was used to assess association between symptoms and demographic and clinical factors. RESULTS: In 309 subjects with a median time of 7.6 years from a diagnosis of one or more rare cancers, the median number of symptoms present per participant was 7. The most prevalent symptom reported was tiredness/lack of energy, which was present/very bothersome in 70%/25% of registrants. Women, non-whites, current smokers, and upper GI cancer survivors are particularly affected. Overall, symptom prevalence was similar across rare cancer types, time since diagnosis, and type of treatment. CONCLUSIONS: Rare cancer survivors continue to experience troublesome symptoms many years after diagnosis, regardless of cancer type or treatment modality. IMPLICATIONS FOR CANCER SURVIVORS: There is a need for continued emphasis on smoking cessation in cancer survivors as well as enhanced monitoring of long-term complications in female, non-white, and upper GI cancer survivors.

Integrated Transitions of Care for Patients With Rare Pulmonary Diseases.

PURPOSE/OBJECTIVES: Many continuing education (CE) resources are available to support case management professionals in developing competencies in transitions of care (TOC) that apply generally across disease areas. However, CE programs and tools are lacking for advanced TOC competencies in specific disease areas. This article describes 2 projects in which leading TOC, case management, and CE organizations collaborated to develop CE-accredited interdisciplinary pathways for promoting safe and effective TOC for patients with rare pulmonary diseases, including pulmonary arterial hypertension (PAH) and idiopathic pulmonary fibrosis (IPF). PRIMARY PRACTICE SETTING(S): The interdisciplinary pathways apply to PAH and IPF case management practice and TOC across settings that include community-based primary care and specialty care, PAH or IPF centers of expertise, acute care and post-acute settings, long-term care, rehabilitation and skilled nursing facilities, and patients' homes. FINDINGS/CONCLUSIONS: Both PAH and IPF are chronic, progressive respiratory diseases that are associated with severe morbidity and mortality, along with high health care costs. Because they are relatively rare diseases with nonspecific symptoms and many comorbidities, PAH and IPF are difficult to diagnose. Early diagnosis, referral to centers of expertise, and aggressive treatment initiation are essential for slowing disease progression and maintaining quality of life and function. Both the rarity and complexity of PAH and IPF pose unique challenges to ensuring effective and safe TOC. Expert consensus and evidence-based approaches to meeting these challenges, and thereby improving PAH and IPF patient outcomes, are presented in the 2 interdisciplinary TOC pathways that are described in this article. IMPLICATIONS FOR CASE MANAGEMENT PRACTICE: In coordinating care for patients with complex pulmonary diseases such as PAH and IPF, case managers across practice settings can play key roles in improving workflow processes and communication, transition planning, coordinating TOC with centers of expertise, coordinating care and TOC for patients with comorbidities, providing patient and caregiver education, promoting engagement between patients and the team, advancing the care plan, and improving ongoing adherence to treatment in order to maximize the patient's pulmonary function. Details regarding these interprofessional roles and responsibilities are provided in the full interdisciplinary TOC pathways for PAH and IPF.

Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs).

PURPOSE: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. METHOD: Retrospective review by a consultant in rehabilitation medicine of electronic and case note records of EPIOC recipients with RDs attending a specialist wheelchair service between June 2007 and September 2008. Data were systematically extracted, entered into a database and analysed under three themes; demographic, diagnostic/clinical (including comorbidity and associated clinical features (ACFs) of the illness/disability) and wheelchair factors. RESULTS: Fifty-four (27 male) EPIOC users, mean age 37.3 (SD 18.6, range 11-70) with RDs were identified and reviewed a mean of 64 (range 0-131) months after receiving their wheelchair. Diagnoses included 27 types of RDs including Friedreich's ataxia, motor neurone disease, osteogenesis imperfecta, arthrogryposis, cerebellar syndromes and others. Nineteen users had between them 36 comorbidities and 30 users had 44 ACFs likely to influence the prescription. Tilt-in-space was provided to 34 (63%) users and specialised seating to 17 (31%). Four users had between them complex control or interfacing issues. CONCLUSIONS: The complex and diverse clinical problems of those with RDs present unique challenges to the multiprofessional wheelchair team to maintain successful independent mobility and community living. Implications for Rehabilitation Powered mobility is a major therapeutic tool for those with rare diseases enhancing independence, participation, reducing pain and other clinical features. The challenge for rehabilitation professionals is reconciling the physical disabilities with the individual's need for function and participation whilst allowing for disease progression and/or growth. Powered wheelchair users with rare diseases with a (kypho) scoliosis require a wheelchair system that balances spine stability and movement to maximise residual upper limb and trunk function. The role of specialised seating needs careful consideration in supporting joint derangements and preventing complications such as pressure sores.

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders.

BACKGROUND: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. METHODS: Twenty-six participants (mean 18 years, SD 8) wore an Actigraph, ActivPAL and StepWatch Activity Monitor (SAM) during a video-taped session of activities. Agreement was determined between step-counts derived from each accelerometer and observation. Repeatability of SAM-derived step counts was determined using pairs of one-minute epochs during which the same participant was observed to walk with the same cadence. RESULTS: The mean difference (limit of agreement) for the Actigraph, ActivPAL and SAM were -41 (SD 33), -16 (SD 21) and -1 (SD 16) steps/min, respectively. Agreement was influenced by a device/cadence interaction (p < 0.001) with greater under-recording at higher cadences. For SAM data, repeatability of step-count pairs was excellent (intraclass correlation coefficient 0.91, 95% CI 0.79-0.96). The standard error of measurement was 6 steps/min and we would be 95% confident that a change ≥17 steps/min would be greater than within-subject measurement error. CONCLUSIONS: The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials. Implications for Rehabilitation Many girls and women with Rett syndrome are able to walk on their own or with assistance but with altered movement patterns. Validated measures of physical activity, such as step counts, have potential to monitor function during daily life. Compared with other forms of accelerometer-type devices, such as ActiGraph and ActivPAL, the StepWatch Activity Monitor (SAM) measured step counts with good accuracy and repeatability. The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials.

The role of the special educator and rehabilitator with a child with a rare disease.

In the case of a child with a rare disease the role of the special educator and rehabilitator is important if in addition to the primary disease the child is affected by motor, sensory, mental or emotional deficiency. The special educator and rehabilitator participates in the discovery on their first visit to the health institution. For each child the special educator and rehabilitator prepares a file with all the relevant data, takes anamnestic data, or complements it, to get a complete picture of the problem, and inputs data from the observation. S/he collaborates with members of the professional team. S/he provides advice, assists and works with the parents. S/he assesses the psycho-motor abilities of the person and how the person functions in the environment. The special educator and rehabilitator performs the following assessments: assessment of dominant lateralization; assessment of psycho-motor abilities of the upper extremities; assessment of psycho-motor abilities of the lower extremities; differentiation of the motor abilities of the fingers; assessment of the possibilities for maintaining the equilibrium of the body; assessment of coordination of the upper and lower extremities in rhythm. The special educator and rehabilitator assesses and examines the praxical organization, specifically melokinetic, ideomotory, ideatory and constructive praxis. This includes assessment of the graphomotoric as a practical activity through testing for quality of lineation, graphomotoric array through analysis of the maturity of the manuscript and the disgraphy of the manuscript. Gnostic organization is examined through assessment of knowledge of body parts, assessment of knowledge of lateralization on themselves and others, assessment of experience and orientation in space and time. Practognostic organization is examined with tests for imitation of movements. Evaluation of the organization of speech through the test of articulation on voices, semantic test and evaluation of lexical abilities and dyslexic reading. Assessment of the organization of cognitive functions where thought operation is expressed, and the special educator investigates the level of comprehension of: serialization, classification, correspondence and conservation. At the end, the child's behaviour is examined. Based on the data obtained, a plan and a strategy for further treatment is developed. After a certain period of time the child is re-examined (evaluation) and we check whether are there any advances in education and rehabilitation. The special educator and rehabilitator is in constant contact with the parents for certain problems that the children have with social adaptation, and they build strategies for future activities.

[Not alone with a rare disease. The importance of self-help given by the example of anorectal malformations]. / Nicht allein mit einer seltenen Erkrankung : Die Bedeutung von Selbsthilfe am Beispiel anorektaler Fehlbildungen.

Using the German self-help organization for people with anorectal malformations (SoMA e.V.) as an example, the aim is to illustrate the particular importance of selfhelp groups for rare diseases. First, the structure and work of the German support and advocacy organization are explained by means of a case study. The special benefit for people affected with a rare disease and their relatives, but also for medical practitioners and health insurance funds are highlighted. Synergetic effects by integrating networks are presented. Meanwhile and thanks to globalization and internet, 13 national self-help groups for anorectal malformations and related continence problems are currently in touch. Even today, the fields of activity and the mutual support in coping with the handicap are frequently underestimated. Professional self-help aims to be respected as an equal partner in interdisciplinary health care systems.