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ORPHA:84  Fanconi anemia

:: Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

 Loss of an ability
Frequent
Temporality
Severity
Walking long distances
Transient limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Moderate
Taking part in community life
Transient limitation
Moderate
Practicing sports
Transient limitation
Severe
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Low
Hearing/listening
Permanent limitation
Unspecified
Acquiring language
Acquisition delay
Moderate
Learning to read
Acquisition delay
Moderate
Learning to write
Acquisition delay
Moderate
Learning to calculate
Acquisition delay
Moderate
Reading
Permanent limitation
Unspecified
Writing
Permanent limitation
Unspecified
Calculating
Permanent limitation
Low
Focusing attention
Permanent limitation
Unspecified
Memorizing and retrieving
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Being aware of space
Permanent limitation
Unspecified
Receiving spoken messages
Acquisition delay
Unspecified
Receiving messages in sign language
Permanent limitation
Unspecified
Receiving messages in sign language
Acquisition delay
Unspecified
Receiving nonverbal messages
Acquisition delay
Unspecified
Receiving written messages
Acquisition delay
Unspecified
Speaking
Acquisition delay
Unspecified
Writing messages
Acquisition delay
Unspecified
Participating in a conversation
Acquisition delay
Unspecified
Using communication devices
Acquisition delay
Unspecified
Standing
Acquisition delay
Low
Reaching and catching objects
Acquisition delay
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Lifting and carrying objects
Acquisition delay
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Handling objects (fine hand use)
Acquisition delay
Moderate
Regulating urination
Acquisition delay
Unspecified
Regulating defecation
Acquisition delay
Unspecified
Dressing/undressing
Acquisition delay
Moderate
Eating
Acquisition delay
Moderate
Eating
Transient limitation
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Unspecified
Controlling one's own general behaviour
Permanent limitation
Unspecified
Controlling one's own general behaviour
Transient limitation
Unspecified
Moving around outside the home
Transient limitation
Unspecified
Using transportation
Transient limitation
Unspecified
Driving
Permanent limitation
Unspecified
Engaging in sexual relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Unspecified
Attending preschool
Acquisition delay
Unspecified
Attending mainstream school
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Accessing higher education
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Unspecified
Performing professional tasks
Permanent limitation
Unspecified
Playing with others
Transient limitation
Unspecified
Socializing
Transient limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Travelling
Transient limitation
Unspecified
Not defined
Being aware of time
Producing messages in sign language
Environmental factors

:: Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Food
Sound intensity
Sound quality
Air quality
Source: Dr Arleen AUERBACH[Expert]_Association Française de la Maladie de Fanconi[Patient organisation]
Last update: 27/03/2015

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