Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease

Abstract

Gaucher disease (GD) is the most common hereditary lysosomal storage disorder. Of the three variants of GD, type 1 accounts for 90% of cases. Patients with GD suffer from multiple medical symptoms and conditions. Clinical features of type 1 GD include hepatosplenomegaly; hematologic complications such as anemia and thrombocytopenia; and skeletal disease leading to avascular necrosis, osteopenia, and osteosclerosis. GD has unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood. The treatment, enzyme replacement therapy (ERT), is efficacious. However, that same effective treatment is intrusive, expensive, and requires that patients restructure their work and personal schedules. Since the age of presentation can be anywhere between infancy and the eighth decade, the diagnostic process can be prolonged and stressful. The success of ERT notwithstanding, GD patients show distinct psychological complications [Packman et al. (2006); J Inherit Metab Dis 29:99-105]. In the present study, we describe the concerns, needs, challenges and positive effects of GD from the patients' perspective using in depth interviews of 28 individual affected by GD. Five core themes emerge: (1) difficulty coping with the diagnosis; (2) impact of pain on work, career, and recreational activities; (3) insurance concerns; (4) psychological distress (e.g., mood changes and anxiety); and (5) positive effects-strengthened family and social relationships and positive outlook. Our results highlight and expand awareness of the psychological and social needs of GD patients. This study calls for a collaborative, multidisciplinary effort in treating these patients and their families.

Development and Use of New Therapeutics for Rare Diseases: Views from Patients, Caregivers, and Advocates

“…Such methods are also appropriate for exploratory research and hypothesis generation, which are both relevant considerations given the paucity of published data on this topic [10]. Previous qualitative research on rare disease patients has focused on common experiences with the disease itself [11][12][13][14][15][16][17]. We focused on rare disease patients' experience with therapeutic decision-making to help identify themes that can help rare disease researchers, biopharmaceutical companies, and government regulators develop and evaluate new therapeutics.…”

Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families

“…Treatment is currently life-long, and deteriorations are observed when infusions are regularly missed (Martins et al 2009;Sifuentes et al 2007). Improvements in growth, cardiac function, lung capacity, strength and joint mobility have been described in association with the intervention (Bailey 2008;Coman et al 2008;Brady and Schiffmann 2004;Martins et al 2009;Meikle and Hopwood 2003;Packman et al 2010;Sifuentes et al 2007;Van Der Beek et al 2006). Reductions in joint pain and in liver and spleen size have likewise been documented (Muenzer 2004;Sifuentes et al 2007) One limitation is that ERT does not ameliorate all symptoms of a lysosomal storage disorder equally (Beck 2007).…”

“…Whilst a significant body of literature exists pertaining to the medical benefits and limitations of ERT for lysosomal storage disorders, research exploring the psychosocial experiences of young people receiving ERT and their families and how this influences lifestyle is scarce. Adults in a Packman et al (2010) study about living with Gaucher disease spoke of the impact regular ERT had on social lives and fear of the consequences of missing infusions. Previous research focusing on young people living with a chronic condition has looked at associated psychological stress on patients (Barlow and Ellard 2006;Taylor et al 2010), parents (Naerde et al 2000) and siblings (Barlow and Ellard 2006;O'Brien et al 2009;Sharpe and Rossiter 2002).…”

The European Gaucher Alliance: a survey of member patient organisations’ activities, healthcare environments and concerns

“…While it might be expected that home infusion would be available in countries with restricted numbers of hospitals where patients may receive treatment for Gaucher disease, this did not appear to be the case (Table 6). While not all patients may feel comfortable with the concept of receiving treatment away from a medical environment, time spent travelling to treatment centres can have an impact on work, education, finances and quality of life [41,42]. Home treatment may offer a more convenient alternative and for some may represent the only practical way of receiving treatment when distances to treatment centres are great.…”

“…As with any patient suffering from a chronic medical condition, patients with Gaucher disease may experience psycho-social complications [43]. Specific concerns for Gaucher disease patients include a difficulty coping with diagnosis, dealing with the effects of pain and fatigue on job, career, and recreational activities, difficulties with social life, emotional problems such as depression, and psychological distress [42]. …”