Stargardt syndrome is a genetic disorder that leads to severe low vision in adolescents and adults. Clinically, it is relatively well known, but there is an apparent lack of interest in the psycho-social aspects of the disease; elements investigated in the present investigation.
The research included the development of an ad hoc questionnaire disseminated through AISSt (Italian Stargardt Syndrome Association) and dedicated groups on major 'social network'. The data obtained were stored in digital format and analysed with the programme EpiInfo 3.4 (released by "Center of Disease Control and Prevention'.).
Subsequently, data were integrated from two interviews with privileged witnesses from which some key concepts were extrapolated. We recruited 34 participants nationwide, 11 women and 23 men with range aged between 7 and 69 (average age 35) plus 2 respondents.
Stargardt Syndrome Research
The sentences below, highlighted in inverted commas, are the comments made by the participants.
"After diagnosis one feels left to one's own devices".
Almost half of the subjects claim to have had a diagnosis difficult to handle emotionally (Tab. 1), Of these, four had to turn to a psychologist (Tab. 3) and three resorted to drugs to control pathological emotional states that emerged after diagnosis (Tab. 2).
"... It would be helpful to be part of a specialised centre,(...) I only became aware of it through social networks.
The issue of access to services for those suffering from Stargardt's syndrome proves worrying; not only are the largest specialised centres in the country underused (Tab. 5), but there are often no indications of adequate facilities for taking care of these patients (Tab. 4).
Finding such centres independently by patients seems to be a real feat (Tab. 6). We can state that 9 times out of 10 operators give a diagnosis without indicating the appropriate centres for assistance, and since these centres prove to be difficult to find, the direct consequence is a lengthening of the time needed to access services.
"... After finishing secondary school the teacher advised me (...) to play the piano, sing, be a telephone operator or a masseur (...).
The school situation experienced by these people does not improve the overall picture. Data from the interviews show that the educational institution is poor and discouraging: for Stargardt syndrome sufferers the reading difficulties are important. Appropriate tools are usually lacking and teachers are not prepared to handle the situation, often giving little hope.
From the data reported in Tab. 7 and from the comments above, we can deduce that this illness tends to isolate those affected by it due to both objective difficulties (problems in driving, misunderstanding, situational difficulties...) and subjective difficulties (denial, fear of appearing fragile...). These difficulties negatively affect social life, especially because of the embarrassment that the limitations induced by the disease create.
In order to investigate the employment sphere, we asked the participants whether they had had to leave their jobs (Tab. 8) and whether they had difficulty finding one (Tab. 9) because of their illness. It turned out that half of those who are ill are not economically independent because they have difficulty finding a job, while 1 in 3 had to leave their job. These are therefore people who are forced to live dependent on their family or partner, with all the emotional implications that this entails. The Tab. 10 highlights the needs of the individual that emerged from the survey carried out and the responses implemented by the National Health System.
Research conclusions
I economic supports and emotional should be implemented to ensure effective help. In particular, it would be helpful:
- Improving the accessibility of specialised centres;
- Recognising psychological, economic and legal support for sufferers;
- Facilitating interaction and meetings between people with Stargardt syndrome;
- Provide schools with specific tools to minimise difficulties for those with visual impairments.
Researcher: Vincenzo Di Maio
E-mail: vincenzo_uni@yahoo.it
Speaker: Giampiero Montanelli
E-mail: g.montanelli@usl11.toscana.it
Co-rapporteur: Dr Calamassi Diletta
E-mail: diletta.calamassi@mail.com
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Dr. Carmelo Chines
Direttore responsabile
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Italian