Rare childhood diseases: How should we respond?

Archives of Disease in Childhood

Volumn 93, Issue 12, 2008, Pages 1071-1074

  Zurynski, Yvonne ^a,c   Frith, K ^a   Leonard, H ^b   Elliott, E ^a,c  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CHILDHOOD DISEASE; CLINICAL PRACTICE; EUROPE; GOVERNMENT; HEALTH CARE PLANNING; HEALTH CARE POLICY; HEALTH SERVICE; HUMAN; MEDICAL RESEARCH; PRIORITY JOURNAL; RARE DISEASE; REVIEW; UNITED STATES;

CHILD; CHILD HEALTH SERVICES; CHILD, PRESCHOOL; DELIVERY OF HEALTH CARE; FEMALE; FETAL ALCOHOL SYNDROME; HUMANS; INFANT; MALE; PARENTS; PATIENT CARE TEAM; PATIENT SATISFACTION; PREGNANCY; RARE DISEASES; RETT SYNDROME;

EID: 57149098451     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2007.134940     Document Type: Review

References (52)

1. Kramer MG. The National Organisation for Rare Diseases and the experiences of the rare disease community. National Organisation for Rare Diseases (NORD), January 2003. Available from http://www.rarediseases.org/pdf/ Eval_Final_Paper.pdf (accessed 26 August 2008).
2. EURORDIS, European Organisation for Rare Diseases. Rare diseases: understanding this public health priority. November 2005. Available from http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf (accessed 28 August 2008).
3. Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006;185:82-3.
4. American Diabetes Association. Total prevalence of diabetes and pre-diabetes. Available from http://www.diabetes.org/diabetes-statistics.jsp (accessed 26 August 2008).
5. Dunstan DW, Zimmet PZ, Welborn TA, et al. The rising prevalence of diabetes and impaired glucose tolerance: the Australian Diabetes, Obesity and Lifestyle Study. Diabetes Care 2002;25:829-34.
6. EURORDIS, European Organisation for Rare Diseases. EurordisCare 2: survey of the delay in diagnosis for 8 rare diseases in Europe. 2004. Available from http://www.eurordis.org (accessed 27 August 2008).
7. Dunkelberg S. A patient's journey: our special girl. BMJ 2006;333:430-1.
8. Le Cam Y. Patients' needs and expectations concerning access to health services - Eurordiscare 3 study. In: 4th European Conference on Rare Diseases, conference report, 2007:51. Available from http://www.rare-diseases. eu/2007/IMG/File/ECRD%202007%20report.pdf (accessed 27 August 2008).
9. Moore H, Leonard H, de Klerk N, et al. Health service use in Rett syndrome. J Clin Neurol 2005;20:42-50.
10. Dellve L, Samuelsen L, Tallborn A, et al. Stress and well-being among parents of children with rare diseases: a prospective intervention study. Issues and Innovations in Nursing Practice 2006;53:392-402.
11. Laurvick CL, Msall ME, Silburn S, et al. Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics 2006;118:1152-64,
12. Elliott EJ, Payne JM, Morris A, et al. Fetal alcohol syndrome: a prospective national surveillance study. Arch Dis Child 2008;93:732-7.
13. O'Leary CM. Fetal alcohol syndrome: diagnosis, epidemiology, and developmental outcomes. J Paediatr Child Health 2004;40:2-7.
14. Streissguth AP, Bookstein FL, Barr HM, et al. Risk factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. J Dev Behav Pediatr 2004;25:228-38.
15. Lupton C, Burd L, Harwood R. Cost of fetal alcohol spectrum disorders. Am J Med Genet C Semin Med Genet 2004;127:42-50.
16. Chambers JG, Perez M, Socias M, et al. Educating students with disabilities: comparing methods for explaining expenditure variation. Center for Special Education Finance, report 7, May 2004. Available from http://www.csef-air.org/publications/seep/national/Rpt7.pdf (accessed 27 August 2008).
17. Guillem P, Cans C, Robert-Gnanasia E, et al. Rare diseases in disabled children: an epidemiological survey. Arch Dis Child 2008;93:115-18.
18. Sloper T, Beresford B. Families with disabled children. BMJ 2006;333:928-9.
19. Mulroy S, Robertson L, Aiberti K, et al. The impact of having a sibling with an intellectual disability: parental perspectives in two disorders. J Intellect Disabil Res 2007;52:216-29.
20. Knott, M. Diagnosing Rett syndrome - my experience. Available from www.apsu.org.au/download.cfm?DownloadFile=BB26D7F0-DDCC-AB98-CC78B1D1F778ADC0 (accessed 30 May 2008).
21. Anon. Tooth reveals cause of child's death. The Sydney Morning Herald 15 November 2005. Available from http://www.smh.com.au/news/National/ Tooth-reveals-cause-of-childs-death/2005/11/15/1132016778653.html (accessed 27 August 2008).
22. Russell E. Alcohol and pregnancy: a mother's responsible disturbance. Mermaid Waters, Australia: Zeus Publications, 2005.
23. Lasker JN, Sogolow ED, Sharim RR. The role of an online community for people with a rare disease: content analysis of messages posted on a primary biliary cirrhosis mailing list. J Med Internet Res 2005;7:e10.
24. Contact a Family. See http://www.cafamily.org.uk/ (accessed 28 August 2008).
25. EURORDIS, European Organisation for Rare Diseases RAPSODY: the Rare Diseases Patient Solidarity Project. Available from http://eurordis.org/ article.php3?id_article=1066 (accessed 28 August 2008).
26. Elliott EJ, Payne J, Haan E, et al. Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: a survey of paediatricians' knowledge, attitudes and practice. J Paediatr Child Health 2006;42:698-703.
27. Phillips WR. Zebras on the commons: rare conditions in family practice. J Am Board Fam Pract 2004;17:283-6.
28. Cullen RJ. In search of evidence: family practitioners' use of the internet for clinical information. J Med Libr Assoc 2002;90:370- 9.
29. Williamson S, Christodoulou J. Rett syndrome: new clinical and molecular insights. Eur J Human Genet 2006;14:896-903.
30. Tang H, Ng J. Googling for a diagnosis - use of Google as a diagnostic aid: internet based study. BMJ 2006;333:1143-5.
31. NORD, National Organisation for Rare Diseases See http://www.rarediseases.org/ (accessed 28 August 2008).
32. National Institutes of Health, Office of Rare Diseases (ORD). See http://rarediseases.info.nih.gov/ (accessed 28 August 2008).
33. EURORDIS, European Organisation for Rare Diseases. Report on the European Conference on Rare Diseases 2005. Available from http://www.eurordis. org/IMG/pdf/EN-ECRDtotal-2.pdf (accessed 28 August 2008).
34. Orphanet. The portal for rare diseases and orphan drugs. See http://www.orpha.net/consor/cgi-bin/index.php (accessed 28 August 2008).
35. Hampton T. Rare disease research gets boost. JAMA 2006;295:2836-8.
36. Harwood H. Updating estimates of the economic costs of alcohol abuse in the United States: estimates, update methods and data. National Institute on Alcohol Abuse and Alcoholism. Available from http://pubs.niaaa.nih. gov/publications/economic-2000/#table3 (accessed 28 August 2008).
37. Olauson A. The Agrenska centre. A socioeconomic case study of rare diseases. Pharmacoeconomics 2002;20(Suppl 3):73-5.
38. Peadon E, Fremantle E, Bower C, et al. International survey of diagnostic services for children with fetal alcohol spectrum disorders. BMC Pediatr 2008;8:12. Available from http://www.biomedcentral. com/1471-2431/8/12 (accessed 28 August 2008).
39. Stolk P, Willemen MJC, Leufkens HGM. "Rare essentials": drugs for rare diseases as essential medicines. Bull WHO 2006;84:745-51.
40. Wastfelt M, Fadeel B, Henter JI. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med 2006;260:1-10.
41. Haffner ME. Adopting orphan drugs: two dozen years of treating rare diseases. N Engl J Med 2006;354:445-7.
42. Miles KA, Packer C, Stevens A. Quantifying emerging drugs for very rare conditions. Q J Med 2007;100:291-5.
43. EURORDIS, European Organisation for Rare Diseases. Rare Disease Day 2008 was a huge success! (May 08), Available from http://www.eurordis.org/ article.php3?id_article=1707 (accessed 28 August 2008).
44. Laverty A, Jaffe A, Cunningham S. Establishment of a web-based registry for rare (orphan) pediatric lung diseases in the United Kingdom: the BPOLD Registry. Pediatr Pulmonol 2008;43:451-6.
45. Knight M, Kurnuczuk J, Brocklehurst P. UK obstetric surveillance systems uncovered. RCM Midwives 2005;8:38-9.
46. IRSF, International Rett Syndrome Foundation. InterRett. See http://www.rettsyndrome.org/index.php?option=com_content&task=view&id= 371&Itemid=573 (accessed 28 August 2008).
47. National Institutes of Health, Office of Rare Diseases (ORD). Undiagnosed diseases program. Available from http://rarediseases.info.nih.gov/ Resources.aspx?PageID=31&PHPSESSID=46125b6f7f3d86c1c9f50d4236d22ca2 (accessed 28 August 2008).
48. Grenier D, Elliott EJ, Zurynski Y, et al. Beyond counting cases: public health impacts of national paediatric surveillance units. Arch Dis Child 2007;92:527-33.
49. Ayme S. Overview of member states public health policies for rare diseases: 2007 update. Available from http://www.eurordis.org/IMG/pdf/ECRD2007- Ayme.pdf (accessed 28 August 2008).
50. Rare Diseases Task Force. Centres of reference for rare diseases in Europe: state-of-the-art in 2006 and recommendations of the Rare Diseases Task Force. December 2006. Available from http://ec.europa.eu/health/ph_threats/ non_com/docs/contribution_policy.pdf (accessed 28 August 2008).
51. Minister of Health and Social Protection, Secretary of State for Handicapped People, Minister of Research. French national plan for rare diseases 2005-2008. Ensuring equity in the access to diagnosis, treatment and provision of care. 2004. Available from http://www.orpha.net/actor/EuropaNews/ 2006/doc/French_National_Plan.pdf (accessed 28 August 2008).
52. Zurynski Y, Reeve K, Elliott EJ. International conferences on rare diseases: initiatives in commitment, continued patient care and connections [letter]. Med J Aust 2007;187:597.