poprzedni post

następny post

52.Quality of life and rare diseases

(24 March 2017)

All people want to have a good quality of life. However, this quality is achieved only by very few people.

Getting a good quality of life is a challenge for healthy people, higher for people suffering from  common diseases and the biggest for people with rare diseases

Quality of life has a few dimensions. This term including physical, mental, emotional, social and spiritual dimensions.

Although some rare diseases do not necessarily affect life expectancy, the majority lead to physical, emotional and psychosocial limitations with a wide range of disabilities.

The etiology and symptoms of rare diseases show great diversity but are some commonalities such as multi-system dysfunction, require complex care, have no effective treatment. Many rare diseases are also associated with motor, sensory and intellectual impairment.

The true challenge could be the correct diagnosis in many cases of rare diseases.

Very interesting data shown C.Morsten et al. in the article “Survey of healthcare experiences of Australian adults living with rare diseases”  published in Orphanet Journal of Rare Diseases in 2016.

The authors surveyed 746 people with rare diseases. 66,2% of patients had seen three or more doctors get a diagnosis and 45,9% had received at least one incorrect diagnosis, 72,1% received no or not enough information at the time of diagnosis.

The most disturbing was data about  the time for  correct diagnosis:

< 3 months: 25,2%

3-12 month:  23,5%

1– 5 years: 21,2%

5 – 10 years: 20,5%

More the 20 years 9,5%

And data about the number of doctors seen to get a correct diagnosis:

1 – 2 doctors 33,7%

3 -5 doctors 37,4

6 – 10 doctors 16,6%

More than 10 doctors 12,2%

What actions can improve the lives of patients with rare diseases?

National plans? Special education for doctors? Reference centers?

Reference Networks? Nothing? All methods should be used?

https://app.sermo.com/post/366879