RARE DISORDERS

Rare disorders including those of genetic origin, are life threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.

As a guide, low prevalence is take as a prevalence of less than 1 per 4000 in the community.

Problems

  • Low scientific knowledge (false perception about rare disorders – ‘not important’ enough)
  • Absence of cure and treatment that could improve quality of life
  • Low knowledge amongst health professionals & public
  • Negative social consequences

Challenges

Limited educational resources on rare disorders for patients & family members especially in different languages

Lack of public support groups for patients with rare disorders

Limited professionals trained in early intervention programmes &
services need to be ‘trained in early’

Lack of awareness and understanding among medical professionals, organisations and community on the needs of individuals with rare disorders

Limited funds to support treatment or to purchase special orphan drugs and vital equipments.

Limited genetic testing available locally

  • Too costly to send overseas
  • Insufficient laboratories & technologists
  • Limited local research data on rare disorders

Specific diagnosis

  • Rare unique syndromes (parents feeling alone in facing challenges)
  • Breaks for parents (respite care for caregivers)
  • Coping with the loss of a child, grief and bereavment Dealing with feelings of guilt, shame and blame

No specific diagnosis

Where there is no specific diagnosis there can be particular difficulties, including :
  • Dealing with uncertainties
  • Management based on needs
  • Family planning issues

Health maintenance

  • Routine paediatric care e.g. vaccination
  • Monitoring growth and nutrition
  • Ensure development of skills

Health surveillance

  • Hearing loss
  • Visual impairment
  • Difficulties in ambulating & getting around
  • Dental care
  • Personal hygiene & toilet
  • Sleep Problems

Behavioural challenges

  • Autism & Hyperkinetic disorder
  • Others : depression, aggression
  • Role of psychologist & psychiatrists

Learning difficulties

  • IQ assessment : accuracy
  • Early intervention programme
  • Occupational therapy
  • Physiotherapy & speech therapy
  • Schooling