Rare Diseases & impact on SI Flashcards
(12 cards)
What are rare diseases?
life threatening or chronically debilitating diseases
low prevalence
What are 2 examples of rare disease survelliances?
orphanet
Eurocrat
What percentage of people with rare diseases were misdiagnosed with another physical disease?
60%
What are the 4 rare diseases?
Li-Fraumeni syndrome (LFS)
Dsytonia
Cystic Fibrosis
Paediatric Interstitial lung disease (ILD)
What is Li-Fraumeni syndrome (LFS)?
a rare hereditary cancer predisposition syndrome
where people experience a nearly 100 percent risk of developing multiple cancers in life span
How does LFS impact on identity?
impacts on family identity
cancer severity shaped identity
What is dystonia?
a chronic and incurable movement disorder e.g tremors, tics
How did dystonia affect social identity?
isolation being a threat to identity
forced to change social and individual identity in response to isolation
What is Cystic Fibrosis?
‘common’ rarely genetic disease
how did new cystic fibrosis treatment affect social identity?
with new treatment, patients became more stable and CF was no longer ‘defining feature’
What is Paediatric Interstitial lung disease (ILD)?
where oxygen has difficulty in crossing over into the bloodstream
What is the impact of ILD on social identity?
isolation and loneliness
lack of support groups for young people with ILD
