title: Parental experience of enzyme replacement therapy for Hunter syndrome.
abstract: We aimed to establish the profile of Irish patients with Hunter Syndrome (Mucopolysaccharidosis type II, MPS II) receiving weekly intravenous Enzyme Replacement Therapy (ERT) with recombinant iduronate-2-sulfatase and to assess the social impact and parental opinion of ERT through the use of a parental questionnaire. Nine patients aged 3.5- 14 years have received a mean of 2 (range 0.5-3.5) years of ERT. Treatment was associated with clinical improvements from baseline in hepatosplenomegaly in 6/7 (85%) respiratory manifestations in 4/6 (67%) and a mean reduction in urinary glycosaminoglycan excretion of 62%. Changes noted by parents included increased energy 3/9 (33%) and softening of skin, hair and facial features 8/9 (89%). Parents report that seven hours weekly were spent on hospitalizations for ERT. Parental employment was adversely affected in 8 (89%) families. One day of school/preschool (20%) was lost every week for 8 (89%) children. All parents believed the benefits of ERT out-weigh the difficulties involved. All families would welcome the introduction of home based therapy. In conclusion the social and educational burden of hospital-based ERT on these children and their families is significant. The introduction of home-based therapy is likely to improve overall quality of life for MPSII patients and their families.
authors.forename: M
authors.initials: M
authors.lastname: Buraczewska
authors.forename: D
authors.initials: D
authors.lastname: O'Leary
authors.forename: O
authors.initials: O
authors.lastname: Walsh
authors.forename: A
authors.initials: A
authors.lastname: Monavari
authors.forename: E
authors.initials: E
authors.lastname: Crushell
mesh_terms: D000293:Adolescent; D001290:Attitude; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D006699:Home Care Services; D006801:Humans; D007066:Iduronate Sulfatase / Q000008:administration & dosage / Q000627:therapeutic use*; D007494:Ireland; D008297:Male; D016532:Mucopolysaccharidosis II / Q000188:drug therapy*; D010290:Parents; D011795:Surveys and Questionnaires; D013997:Time Factors
chemical_list: D007066:Iduronate Sulfatase