RARE DISORDERS
Rare disorders, including those of genetic origin, can be life-threatening or chronically debilitating diseases with such low prevalence that special combined efforts are needed to address them.
As a guide, a rare disease affects fewer than 1 in 4,000 people in the community. There are an estimated 6,000 to 7,000 rare diseases worldwide.
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
- 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