1. Rubinstein-Taybi syndrome in South Africa

2. 1652

3. 2010

4. Map of South Africa

5. Cape Town

6. Inequality

7. Namibia - 1
South Africa – top 10
China – 34
USA – 58
UK – 83
Netherlands - 90
Denmark - 111

8. Neighbours

9. 2 systems

10. State Private 75% Long waiting times Overcrowded
Slow referral system – stuck.
Less educated patients – late presentations
Other problems – HIV
Exceptions!
25%
Reasonably quick
Appointment times
Patient chooses doctors/therapists
More educated
Less diseases of poverty

11. RTS 9 Geneticists in the whole of South Africa.
No ‘expert’. No database of patients. No follow-up
No support group (until now)
Find our own path – therapists, schools etc
Means tested state support – highly limited services

12. Rest of Africa

13. “Children are the most vulnerable citizens of our society and the greatest of our treasures”