This girl suffers from the diagnose
“Retts Syndrome” which is a severe disturbance in the
development of the brain. The picture is from a
“sensory path” where children’s vision and senses are
Some 30,000 people in Norway suffer from rare hereditary or congenital disorders.
They can be further divided into several groups, in which fewer than 500 persons share the same diagnosis.
Senior research scientist Lisbet Grut of SINTEF Health Research has led an in-depth study of such people. In a project carried out on behalf of the Directorate of Health, Grut interviewed 94 persons from eight diagnostic groups and from the national centres for rare disorders that they attended.
The aim of the study was to shed light on how these persons experienced their own life situation and how they had been treated by the health services.
A feeling of falling outside the system
Grut emphasises the lack of specialist knowledge and of an integrated approach in the health services as two important findings in her material.
“People who have been diagnosed with rare disorders often encounter mistrust and a lack of sympathy in their meetings with the support system. Since they themselves know a good deal about the treatment, measures to be taken, risks and consequences of their diagnoses, they expect to be listened to and respected. But when they meet health service personnel, they find it difficult to get through to them,” she says.
All of the subjects of the study had experienced that health service personnel outside the national centres did not know about their rare disorder diagnoses.
Many of them did not place high priority on acquiring such knowledge either, but made their decisions on the basis of what they assumed to be correct. When local follow-up did take place, it was usually dependent on individual health personnel becoming interested in a particular case.
“Patients who have been diagnosed as having a rare disorder share a perception of having fallen outwith the conceptual universes of the experts,” says Lisbet Grut. She does not expect institutions such as the education system, the health service or NAF (the Labour and Welfare Administration) to be familiar with rare disorders, but finds it strange that experts are not anxious to acquire relevant knowledge.
Diagnosis takes time
What these rare disorders have in common is that they are incurable. Nevertheless, many people can benefit from ameliorative treatments and various types of adaptation.
The group studied by Lisbet Grut includes people suffering from cystic fibrosis (a multi-organ illness that attacks the respiratory and digestive systems), Usher Syndrome (double loss of hearing and vision) and bladder exstrophy (malformation of the bladder, urinary tract or sexual organs).
Several of the participants in the study say that it took a long time for a diagnosis to be made. In many cases, not even their closest relatives understand what is wrong with them.
The mother of a hearing-impaired boy said that she could not understand why her son gave up cycling one summer. It was a long time before the family realised that he was losing his sight, and several more years passed before he was diagnosed with Usher Syndrome.
Because personnel in the general health service apparatus seldom or never come into contact with rare disorders, a network of national centres have been set up for each disorder. These centres are intended to offer support to the people who have been diagnosed, their families, and professionals at all levels. However, about half of all people who have been diagnosed as having a rare disorder still lack such a national centre that they can attend.
Almost all the interviewees had dealings with NAV, and many of them felt that their cases were dealt with in a rigid manner and that their actual needs were not taken sufficiently into account.
Many of the respondents found that in order to obtain help they had to emphasise the most negative aspects of their condition. Many of them said that they realise that they need to behave in a “polite, humble and obsequious” fashion, and they try to develop strategies for communicating with their case officer.
Since service providers lack knowledge on which to base the way in which they treat patients, applications for support are usually rejected. In very few cases do case officers attempt to obtain the knowledge that they themselves lack. The patients themselves are forced to ensure that information reaches these people.
“Support schemes don’t come into effect by themselves. Living with a rare disorder is largely a matter of being believed and taken seriously. For many people, the national centres are a decisive factor in determining the quality of the help they are given at local level,” says Lisbet Grut.
Contact: Lisbet Grut, SINTEF Health Research
Tel: +47 993 68 151 Email: firstname.lastname@example.org