The health and life path of rare disease patients: results of the 2015 French barometer

Figures & data

Figure 1 Summary of the main steps of the health and life path of rare disease patients and examples of associated characteristics or difficulties.

Table 1 Characteristics of the patients

Characteristic	Frequency (%)
Gender (n=442)
Female	70.1
Male	29.9
Age (n=439), years
<2	3.9
2–11	18.9
12–17	5.9
18–25	10.5
26–40	21.9
41–60	31.9
>61	7.1
Diagnosis made* (n=432)
<2 years ago	27.5
2–4 years ago	19.2
5–9 years ago	13.0
10–19 years ago	14.6
>20 years ago	11.1
No diagnosis	14.6

Note:

* At the time of the survey.

Abbreviation: n, number of respondents.

Figure 2 Age at the first signs of the disease (A) and duration of delays in diagnosis (percentage of patients) (B).

Figure 3 Perception of medical care.

Note: This figure shows an English translation of the original version of these questions, which were presented in French.
Abbreviation: RD, rare disease.

Table 2 Patients’ needs

Patients’ needs	Answers
	Yes	No
Patients’ needs were evaluated (n=437)
Average of all respondents	23.3%	76.7%
Average of patients <18 years old	33.6%	66.4%
Procedure to obtain support was difficult/rather difficult (n=290)	71.4%	28.6%
	Number of answers	Frequency**
Expressed needs* (n=300)
Financial	155	51.7%
Technical	131	43.7%
Home assistance	118	39.3%
Home adjustment	76	25.3%
Small ergonomic equipment	66	22.0%
Adjustment of vehicle	43	14.3%
Assistance animal	7	2.3%
Other	78	26.0%
Type of respondent who expressed at least one need	Patient: 58.7%***	Parent/relative: 77.5%***

Notes:

* These needs are those expressed in the survey, independent of the needs that could have been expressed during the evaluation by a health care professional.

** 300 participants answered the question, but some declared several needs. The frequency was calculated based on the number of respondents (n=300) and not on the total number of answers.

*** Percentages of the participating patients or parents/relatives.

Abbreviation: n, number of respondents.

Table 3 School and work situation

Life situation	Item	Frequency (%)
School (n=178)	Good or very good contact with, and listening from, educational teams (n=175)	59.3 (all) 82.5 (<18 years old)
	Benefited from specific school adjustments or support (n=175)	41.7
	Needed a special needs teaching assistant (n=178)	42.1
Work (n=355)	Reduced work activity	10.4*
	Adapted professional life (specialized working structure, adapted workplace)	13.8*
	Momentarily stopped working	25.1*
	Did not work or stopped working	50.7

Notes:

* For work-related questions, several answers were possible. Percentages were calculated based on the 355 respondents. This table shows an English translation of the original version of these items, which were presented in French.

Abbreviation: n, number of respondents.

Table 4 Psychological, emotional and family aspects associated with the disease

Addressed issue	% of “yes” answers
Psychological support was proposed (n=439)	36.9
Psychological manifestations (n=278)
Depressive episode(s)	29.5
Violent breakdown(s)	9.0
Behavior troubles	36.7
Other psychological issues	24.8
Feeling of isolation (n=438)	47.9
Needed to hide the disease (n=439)*	33.3
Impact on sentimental and emotional life (n=419)
Negative	50.4
Positive	8.4
No impact	41.3
Couple issues (n=428)*
Very important/break up	29.2
Minor	27.3
No	21.5
Not concerned	22.0
Disease as:
Trigger of couple issues (n=195)*	70.3
Cause of couple issues (n=207)*	74.9
Family issues (n=432)
Very important/separation	24.3
Minor	37.7
No	38.0
Disease as:
Trigger of family issues (n=216)	69.9
Inducer of family issues (n=240)	77.1

Notes:

* Answers to this question concerned both patients and parents. This table shows an English translation of the original version of these issues, which were presented in French.

Abbreviation: n, number of respondents.

Figure 4 Comparison between answers of patients followed in an SC (black bars) and patients not followed in an SC (gray bars).

Notes: *Percentage of patients who answered ‘yes’. All answers are significantly different between the two populations. This figure shows an English translation of the original version of these questions, which were presented in French.
Abbreviation: SC, specialized consultation.

Table 5 Summary of the key conclusions from the 2015 barometer

Summary of the key findings
For 20.9% of the patients with a diagnosis, the delay to obtain this diagnosis was ≥6 years
Hospital stays often or very often occurred in emergency for 45% of the patients
For 88% of the patients, home return after hospital stay often or very often proceeded smoothly
Inappropriate care, treatments or tests were reported for 57% of the patients
90% of the participants estimated that health professionals outside the hospital have insufficient knowledge of their disease
Obtaining aids (financial, technical, and so on) was difficult or rather difficult in 71% of the cases
Stays or follow-ups in medicosocial centers were globally associated with positive outcomes
Contact with education teams was good for 60% of the patients (80% for 2- to 17-year-old patients)
51% of the patients or parents of patients did not work or stopped working
62% of the patients presented psychological or behavioral troubles
48% of the patients felt isolated from friends and family
The disease was an inducer of couple issues for 75% of the patients or parents of patients
Patients followed in specialized consultations have a better perception of the medical care path than patients not followed in specialized consultations