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Sara Tomczak, Hanna Gorejko and Wiktor Dróżdż

Abstract

Introduction: Amyotrophic lateral sclerosis is a progressive neurodegenerative disease with undetermined etiology. Due to diverse symptomatology, it requires a thorough differential diagnosis, with consideration of conversion disorders. The presented thesis describes a case of a young man hospitalized in the Department of Psychiatry in order to verify the possible psychogenic basis of his symptoms, which previously were considered to be a manifestation of neurological disease with an unfavorable prognosis.

Aim: The aim of the thesis is to raise the issue of a multidisciplinary approach to diagnostic process in medicine, as well as taking into account the legitimacy of including psychiatrists, psychologists, and psychotherapists in diagnostic teams.

Case study: We present a case report of a man who has been experiencing progressive feeling and walking problems for the past several years, which originally suggested a neurological or rheumatological disease. Earlier observations and medical tests had led to a diagnosis of amyotrophic lateral sclerosis. After several years, the diagnosis was excluded, and the patient was referred to the Department of Psychiatry to determine the possible psychogenic basis of his symptoms. Diagnostic methods used during the patient’s hospitalization confirmed the conversational nature of his symptoms, and both pharmacological and psychotherapeutic treatment caused reduction of severity of his symptoms and allowed him for a gradual return to independent functioning.

Conclusion: Analysis of the collected data, including patient’s life history and a course of his treatment, indicates the validity of a holistic approach to medical problems, which implies the inclusion of specialists in the field of psychiatry, psychology, as well as psychotherapists in diagnostic teams. Such a multidimensional view of the patient and the source of his symptoms may allow for faster diagnosis and may also contribute to reducing the risk of making mistakes such as an incorrect assessment of factors triggering the disease process.

Open access

Steve Chaplin

Open access

Ma Hazel Cordial

Abstract

We describe the case of a patient with severe haemophilia A and significant comorbidities who underwent surgery to remove a large intra-abdominal haematoma first diagnosed 12 years previously. The haemophilia team was instrumental in coordinating care, building a strong rapport with surgical and other medical teams to manage bleeding risk with continuous infusion of factor VIII (FVIII). Medical teams adjusted their working hours according to clinical need. Haemophilia nurses were available to offer support at all times, and developed management procedures and educated staff on haemophilia and its treatment. Perioperative complications included a thrombus occluding the right internal jugular vein, infection and paraesthesia. However, surgery was effective and the patient was pleased with the overall outcome. Haemophilia nurses established strong and rewarding relationships with other teams that will enhance the delivery of care in the future.

Open access

Steve Chaplin

Open access

Luke Pembroke and Sandra Dodgson

Abstract

People with haemophilia and other bleeding disorders, such as von Willebrand’s Disease (vWD), are frequently diagnosed in childhood. There is, therefore, a recognised need to prepare children and young people with these conditions for transfer to long-term care in the adult sector. The Transforming Transition programme was designed to facilitate the sharing of knowledge and experience to enhance transition practice in the UK. The aim of the programme was to secure change in working practices to enable nurses to drive improved transition outcomes, enhance self-management by people with haemophilia and develop clinical leadership. As part of the programme, we captured young people’s views of their transition experiences by means of a series of structured interviews conducted with young people identified through the patient association. Interviews revealed that transition tended to take place around the age of 16 but could be delayed in response to individual circumstances. The transition process did not always appear to be planned, with many participants reporting an abrupt or sudden change between paediatric and adult teams and/or centres. Those with severe haemophilia tended to be well educated and prepared by their paediatric teams to be confident in managing their condition from an early age. They would learn to self-infuse between the ages of 5-11, and reported feeling confident in tailoring their treatment around their daily routine. Experience of transition to adult services varied, with about half describing it as fairly well planned. For those with bleeding disorders such as vWD, there was rarely a transition process. These individuals and people with mild haemophilia described having less exposure to opportunities to learn self-management and appeared to experience issues which coincided with significant lifestyle changes, such as leaving home and attending university. This highlights the importance of ensuring that patients across the spectrum of bleeding disorders are adequately supported in the lead-up to and transfer to adult services. The interviews also reinforce the need to continue to address the specific needs of women with bleeding disorders as they transfer to adult services. The learning from this phase of the Transforming Transition programme was submitted to NICE as part of the consultation on its guideline.

Open access

Emily South and Kate Khair

Abstract

Haemophilia impacts on the person who has it as well as his close family and friends. The majority of healthcare provider focus is with the person with haemophilia and his carers during childhood, and then on the person himself as he becomes able to self-manage. There is a belief that the family and healthcare team support the patient equally. In this study, which was designed to understand the patient/ carer/healthcare provider relationship, we investigated support mechanisms from the patient’s perspective, using narrative stories from those we call ‘witnesses’. Carers, family and friends rarely feature in haemophilia research, yet can provide in-depth insight into the life of the person with haemophilia. Three key areas were identified which underlie and cause tension in the world of haemophilia. These are described as ‘identity and tackling the lion’, ‘the haemophilia team’ and ‘the unique perspective and influence of the ‘outside-in’. Support from the ‘outside-in’ as well as healthcare providers is important for people with haemophilia for both physical and psychological health. Working together we can better support individuals with haemophilia as well as other members of their extended families. As haemophilia care changes in a new era of therapeutic options; we need to re-evaluate the supportive role of family and carers to ensure that the patient and family voice is heard in decision-making at an individual and national level.