The role of the nurse has evolved enormously in recent years. By way of a descriptive case study, this article highlights the role of the advanced haemophilia nurse specialist. The case study serves as a focal point for discussion of how the extension of this role has enabled the provision of consistent and comprehensive care and support to patients with inherited bleeding disorders.
Sharon Alavian, Christine Norton and Shokri Othman
Little is known about the experience of living with mild haemophilia. Clinically, many patients do not present promptly for health care following a bleed. Our aim in this study was to gain an understanding of the experiences of people living with mild haemophilia, and what influences their decision to access or not access healthcare following a bleed. A qualitative phenomenological study using semistructured, digitally recorded interviews, analysed using Colaizzi’s interpretive phenomenological analysis. Eight patients with mild haemophilia, median age 52 (range 26- 83) were interviewed. Two themes emerged: Accessing healthcare: Participants managed small bleeds or injuries at home and employed the RICE (rest, ice, compression, elevate) principle. The majority employed a “wait and see” strategy to judge whether the bleed was significant. Pain helped them determine whether they needed to access healthcare services. There was strong resistance to attending an Accident and Emergency (A&E) department because of long waiting times, perceived lack of A&E staff knowledge about managing haemophilia, and fear of not receiving medication promptly. Living with mild haemophilia: The time at which participants first knew they had mild haemophilia ranged from early childhood to adulthood. When sharing their haemophilia status with friends, schools and employers some felt supported, while others were more reticent, finding that restrictions were placed on them once it was disclosed. The impact of living with mild haemophilia varied from very little to a great deal. For most, it did not prevent active involvement in sports. Most were not concerned about having children, but some feared haemophilia being passed on to future generations. Work is required to encourage people with mild haemophilia to access health care more promptly following a bleed. Guidelines regarding the care and management of haemophilia need to be readily available to A&E staff. Recognition is needed that “mild” may not appear mild to the patient.
Sabia Rashid, Patricia Bignell, David Keeling and Nicola Curry
We report a single centre’s experience of the diagnosis and management of an uncommon form of type 2 von Willebrand disease (VWD) in members of two unrelated families. The affected patients presented with mild to moderate bleeding phenotypes and accompanying MCMDM-1 VWD bleeding assessment tool scores of 5 or less. Genetic analysis in both families confirmed a missense mutation in exon 30 of the von Willebrand factor (VWF) gene, a single base substitution T>A at nucleotide 5282 which led to change at codon 1761 from methionine to lysine (M1761K). This mutation lies within the A3 domain of the VWF protein, a region that is important for collagen binding. All affected patients were found to have normal coagulation profiles, normal VWF multimers and normal VWF assays except the VWF collagen-binding (VWF: CB) assay levels, which were significantly reduced. Desmopressin effected a good response in all treated patients, with a 3- to 5-fold rise of VWF:CB levels. However, there was variability in the degree to which VWF:CB levels remained elevated. Surgical procedures, including the delivery of one patient, were able to be managed with either desmopressin and/or tranexamic acid alone, with little need for recourse to VWF factor concentrate therapy.
Pain is a phenomenon that accompanies a person with haemophilia (PWH) and many others with bleeding disorders from birth to death. Caregivers are not immune. For you cannot provide care, either as a loved one or a health care provider, and watch someone in pain without experiencing pain yourself.
Masoume Rambod, Farkhondeh Sharif, Zahra Molazem and Kate Khair
Pain is a major problem in haemophilia patients’ lives. The perspective of pain in such patients is unique and may be different from other chronic illnesses. This qualitative hermeneutic phenomenological study aims to describe and interpret pain experience of haemophilia patients. Participants were selected from a haemophilia clinic affiliated with Shiraz University of Medical Sciences, Shiraz, Iran. Taking the main theme, “pain: the voiceless scream in every moment of haemophilia life”, with two subthemes, “a life full of pain” and “describing complex pain quality”, data was collected using semi-structured in-depth interviews and field notes, and thematic analysis conducted using van Manen’s methodological framework for reflective hermeneutic interpretation. The findings indicated that pain always accompanied the lives of haemophilia patients. Participants experienced acute intense pains, accompanied by bleeding, which were described as “terrible”, “severe”, “intolerable” and “unbelievable”. As joints became damaged over time, participants experienced persistent pain that was “continuous” and “constant”. Participants also coped with ever-present pain in immobile joints, described as “intense”, “annoying” and “intolerable”. This qualitative study shows that pain is present throughout haemophilia patients’ lives and that they experience different kinds of pain, demonstrated through various descriptions. By understanding the experience of pain from the perspective of haemophilia patients, nurses and healthcare workers can provide high-quality care focused on their unique needs.
Trudi Little, Esben Strodl, Simon Brown and Tara Mooney
The experience of living in a non-metropolitan area and parenting a child with haemophilia is relatively unknown. Using Interpretive Phenomenological Analysis (IPA), the following study explored the experiences of seven parents, from which four themes emerged: ‘bearing the brunt of diagnosis’ captures the impact of the diagnosis; ‘if you can’t help me, who can?’ reveals experiences with the health system; ‘tackling the challenge of treatment’ encompasses difficulties in adhering to the treatment regime; ‘I need you to understand’ reflects desires for others support and understanding. These themes should be considered when developing support systems and interventions for parents living in non-metropolitan areas.
James Munn, Kate Khair, Andrew Scott, Robyn Shoemark, Julia Spires, Morten Lind Jensen and Reto Wirz
Prophylactic coagulation factor replacement is increasingly the treatment modality of choice for people with haemophilia (PWH). Currently available recombinant factor products require reconstitution from a lyophilised powder and diluent, and a range of infusion systems is available to assist in this process. This study aimed to understand the properties of a reconstitution/infusion system that are most important to PWH and carers of children with haemophilia (CWH), and to assess two available systems produced by Novo Nordisk for the reconstitution and infusion of activated recombinant factor VII and recombinant factor VIII: the original infusion system and the newer MixPro® system. Both were tested by a group of 67 PWH or carers of CWH who were naïve to them. Participants rated the performance of each system against 18 predefined parameters using the 7-point Likert scale, and ranked the importance of these parameters to the design of an infusion system. They also directly compared the performance of the two systems and provided qualitative feedback. Overall, MixPro® was preferred to the original system by 94% of study participants. This was reflected in the performance scores for individual parameters, with scores in 16/18 parameters being significantly higher for MixPro® (p<0.05) than the original system. Low contamination risk was seen as the most important criterion in the design and choice of an infusion system, with 97% regarding MixPro® as the superior system in this category. The MixPro® system was perceived as being quick, easy to use, convenient and portable. It is hoped that these findings may help guide the future design of infusion systems for PWH.
The long-awaited results of the SIPPET (Survey of Inhibitors in Plasma-Products Exposed Toddlers) study were recently presented during a plenary session at the American Society of Hematology (ASH) conference in December 2015.
Staff at the Katharine Dormandy Haemophilia Centre pioneered a systemic family therapy model for haemophilia, in which reviews combined medical care and family counselling. That approach has now been extended to specialised joint clinics such as in orthopaedics, women’s and genetic counselling. This multidisciplinary team approach enables specialist clinicians to focus on what they do best while the family therapy team manages the psychological, practical and family issues, and supports patients to make difficult decisions regarding their care.
The HIV and hepatitis C epidemics of the 1980s represent the darkest days in the history of modern haemophilia care. The haemophilia centre at the Royal Free Hospital was at the forefront of research into the natural history of both diseases. This work led directly to the widespread use of recombinant products, as well as the establishment of combined haemophilia clinics with hepatologists and HIV physicians.