Orphan Diseases

by Radovan Banovic

What is coming?
Before we start The Definition Etiology and Prevalence Signs and Symptoms OT Connection A call The Resources

Before we start

Hutchinson-Gilford Progeria Syndrome ("Progeria", or "HGPS") is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.

Vitiligo is a condition that causes depigmentation of sections of skin. It occurs when melanocytes, the cells responsible for skin pigmentation, die or are unable to function.

Epidermodysplasia verruciformis extremely rare recessive genetic skin disorder associated with a high risk of carcinoma of the skin. It is characterized by abnormal susceptibility to HPVs of the skin (warts)

The Definition-Orphan diseases

In USA: Diseases and disorders are those which affect small patient populations, typically populations smaller than 200,000 individuals in the United States (Rare Disease Act of 2002) In Europe:
1. 2. Rare disease (RD) - prevalence 1/2000 and Neglected diseases
I. II. III. IV. common in developing countries ignored by the pharmacy industry of developed countries not financially feasible (profitable) these include tuberculosis, cholera, typhoid, malaria and some other diseases (EURORDIS, 2005).

This definition adopted around the world, including USA No Orphan syndrome category in DSM-IV or ICD-10 Closest category Reactive Attachment Disorder, ICD-10 codes F 94.1, or F 94.2.

Etiology and Prevalence Not So RARE

Prevalence
between 6000 and 7000 rare (orphan) diseases Affects around 30 mil. In USA, 25 mil. In Europe and 350 mil around the world Means 1/10 in USA, 1/30 in Europe and 1/20 around the world

Etiology
80% genetic some caused by pathogens (viruses and bacteria) or by exposure to environmental hazards, such as chemicals, radiation or combination of those Many are idiopathic Other examples: all children cancers, Autism, Thalassemia, Guillain-Barre syndrome, Tay-Sachs syndrome, Non-Hodgkin malignant lymphoma, Scleroderma, Brugada syndrome, Crohns disease, Duchennes muscular dystrophy (EURORDIS, 2005)

Signs and Symptoms

Specific
From death (Tay-Sachs, Duchenes dystrophy) Severe (cancers, Severe Combined Immunodeficiency SCID) To mild (mild anemias, mild skin disorders)

Common
Most RDs affect the whole family Absence of timely correct diagnosis Absence of information Absence of scientific knowledge Social problems caused by a RD Patients QOL depends more on the quality of care provided, than the Illness severity or the impairments caused by it Expensive drugs and care and unequal availability Disease is often blamed on the parents

What can OTs do?

Follow the OTPF process E, I, O
Family centered critical and narrative reasoning (family story) Non-judgmental Supportive Understand the challenges
the challenge of always being there change in career plans making decisions and tolerating compromises where do we find a sitter anticipating the unanticipated(Smith, 2004)

Evaluation to be:

Intervention
Community and Occupation based Increase occupational performance Examples: environmental adaptations, adaptive equipment, coping strategies, vocational interventions, goal setting, energy conservation, joint protection, exercise, and coping strategies Improvements in self-care, productivity, and leisure

Outcomes

The overall result Better overall health, increased quality of life, and functional self-efficacy (Hand, Law, & McColl, 2011)

A call
OTPF Occupational Justice for all
There is no disease so rare that it does not deserve attention Rare diseases are rare, but rare disease patients are numerous (Orphanet, 2011)
http://img.rarediseaseday.org/rdd_2012/info_pack_rdd2012.pdf

February 29 2012 Goethe Knowledge is good, only if applied

The Organizations - Resources

National Organization for rare Diseases (NORD)
http://rarediseases.org/about

European Organization for Rare Disease (EURORDIS)

www.eurordis.org

Office for Research of Rare Diseases (ORDR)

http://rarediseases.info.nih.gov/

Genetic Alliance
http://www.geneticalliance.org/

Orphanet (European portal) www.orpha.net Global Genes Project www.globalgenesproject.org

Kansas University Medical Center www.kumc.edu/gec/support/grouporg.html National Library of Medicine http://dirline.nlm.nih.gov/help/dirline/a2z_A.html

1. 2. 3. 4. 5. 6. 7. 8.

9.
10. 11. 12. 13.

R.A.R.E., Team. (2010). About us. Retrieved November 4, 2011, from The Global Genes Project: http://www.globalgenesproject.org/about.php AOTA. (2008). Occupational Therapy Practice Framework. The American Journal of Occupational Therapy, 625 - 683. Armstrong, W. (2010, May 1). Pharma's Orphans. Retrieved November 5, 2011, from Pharmaceutical Executives: www.curefa.org/_pdf/PharmaceuticalExecutiveMagazineArticle.pdf Case-Smith, J. (2004, September/October). Parenting a Child With a Chronic Medical Condition. The American Journal of Occupational Therapy, pp. 551 - 560. Congress, U. S. (2002, November 6). Rare Disease Act of 2002. Retrieved November 4, 2011, from Government Printing Office: http://frwebgate.access.gpo.gov/cgibin/getdoc.cgi?dbname=107_cong_public_laws&docid=f:publ280.107 Encarta, World English Dictionary. (2009, January 15). Orphan. Retrieved November 4, 2011, from Bing definition: http://www.bing.com/Dictionary/search?q=define+orphan&FORM=DTPDIA EURORDIS. (2005, November). Rare Diseases: understanding this Public Health Priority. Retrieved November 4, 2011, from European Organization for Rare Diseases: http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf Hand, C., Law, M., & McColl, M. A. (2011, July/August). Occupational Therapy Interventions for Chronic Diseases: A Scoping Review. American Journal of Occupational Therapy, pp. 428 - 436. Jones, K. P. (2010). International Rare Disease Day, 28th February 2010. Retrieved November 4, 2011, from Society for Pediatric Oncology of Europe (SIOPE): http://www.siope.eu/SIOPE-EU/English/SIOPEEU/Advocacy-Activities/Rare-Diseases/page.aspx/148 McHugh, B. (2010, November 14). The Orphan Syndrome. Retrieved November 4, 2011, from Families.com, LLC: http://mental-health.families.com/blog/the-orphan-syndrome# NORD. (2003). Epitheliopathy, Acute Posterior Multifocal Placoid Pigment. Retrieved November 5, 2011, from National Organization for Rare Disorders : https://www.rarediseases.org/rare-disease-information/rarediseases/byID/609/viewAbstract Schieppat, A., Henter, J.-I., Daina, E., & Aperia, A. (2008, June 14). Why rare diseases are an important medical and social issue? Lancet, pp. 2039 - 41. VanLeit, B., & Crowe, T. K. (2002, July/Avgust). Outcomes of an Occupational Therapy Program for Mothers of Children With Disabilities:Impact on Satisfaction With Time Use and Occupational Performance. American Journal of Occupational Therapy, pp. 402 - 409.

References