No one better than someone who experiences a disease firsthand can explain to you what it feels like, what are the most urgent needs, how to be helpful in a concrete way. For this ‘Retina in health‘ met Assia Andrao, president of the non-profit Retina Italia Association, which here leads us to discover the world of the visually impaired.
Can you live with retinal dystrophy? What are the things that cannot be done?
A pathology with such serious consequences can never be accepted, but you must and can live with it. Overcoming also an important psychological impact for the family, first if the diagnosis is made to a minor, and to everyone when the diagnosis is made in adolescence or later. It is very difficult to predict the progression of the disease, it could worsen quickly and lead to blindness in a short time or more slowly going through the many stages of low vision. For this reason, it is not possible to plan life with long-term projects. Each choice is made according to the severity of the low vision. In short, in order to live with a retinal dystrophy it is necessary to become aware of it, to be able to enhance one’s possibilities, but also to be able to acquire the skills and weapons to fight against prejudices and stereotypes. It is a complex and difficult path that cannot be done alone: having retinal dystrophy as a life partner is certainly very tiring, but the first step to live with it is to know your disease.
Can retinitis pigmentosa be transmitted to the fetus?
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Understanding this disease is not easy. How to explain it in easily understandable words?
Retinal dystrophies are rare, degenerative, progressive pathologies and as the researchers explain they are due to genetic mutations. The genes that cause retinal dystrophies are more than 200 but these pathologies are monogenic so they can manifest themselves differently depending on the gene in question. Hence the importance, for each patient, of having the correct diagnosis through genetic testing. There are forms of retinal dystrophies that occur already in childhood with already very serious consequences, such as Leber’s Congenital Amaurosa, which immediately determine the involvement of the family in life choices. But most retinal dystrophies such as Retinitis Pigmentosa or Stargardt’s disease manifest themselves in adolescence or even later.
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What practical suggestions can you give to those who have to manage this disease but want to maintain their autonomy? What can be done?
Today technology helps us a lot and there are centers for the so-called “visual qualification”, able to identify the technical aids that meet our needs, for people who are still visually impaired. It is also possible to follow mobility courses that teach us to use the white cane, or be guided by a guide dog. Certainly, institutions need to be seriously aware of the need to break down architectural barriers. Unfortunately, when we talk about people with disabilities we always think of people with motor disabilities, while sensory or cognitive ones are not provided. The cause is perhaps to be found in the rooted idea that visually impaired or blind people must always be accompanied, or they must “stay at home”. Today this is no longer the case, fortunately young people want to be autonomous, make their own choices, not always having to depend on others. Certainly there will be situations in which they need help, but what they could do on their own they want to do.
Retinitis pigmentosa: do you need a visit to the geneticist?
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For those who study what solutions are there in everyday life?
Students who have been recognized as having a serious disability can make use of current legislation. In particular, the Legislative Decree. n. 66/17, Norms for the promotion of scholastic inclusion of students with disabilities, is one of the implementing decrees of the Good School, it redefines many of the procedures envisaged for pupils with disabilities, reforming many aspects of Law no. 104/92. However, for those who are visually impaired and do not need support teachers and have not requested or obtained recognition of disability, it will be the same teachers who will have to collaborate with the students to understand what measures to take to allow a normal school path.
Retinitis pigmentosa: the genetic test is needed for the whole family
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And, on the other hand, what kind of protections are provided for those who work?
Those who work and belong to the so-called protected categories can refer to Law no. 68 of 1999 which reforms the mandatory placement by introducing the so-called Targeted placement, that is to say as verbatim reported in the standard: “that series of technical and support tools, which allow to adequately evaluate people on the basis of their work skills, so as to place them in the right place, through forms of support, job analysis, solutions to problems connected to the workplace “. The problem becomes more complex for people with retinal dystrophy who have undertaken the work path in a non-serious condition of the pathology, with a professional path that is no longer possible to continue with the worsening of the disease.
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Sometimes those suffering from these pathologies tend to isolate themselves and can fall into depression: how to avoid this risk?
I remember that we are talking about rare pathologies and without therapy except for gene therapy indicated only for those who have the RPE65 gene mutation. Conditions that begin with mild symptoms, which progress relentlessly, slowly or quickly, and lead to blindness. Knowing that no one can do anything, even just to slow down degeneration, leads to a sense of loneliness and abandonment that also involves the family. Low vision is a hybrid, disabling, inhomogeneous condition to which it is not possible to give a precise connotation, because given the complexity of the pathology, it is very subjective. As long as a residue of vision persists, the hope persists that scientific research will find a therapy, which, given the problem of the disease and despite the great goals achieved, still seems very far away. Those who see their eyesight degenerate, creating more and more difficulties in daily life, focus on what they have lost, living in a continuous phase of “mourning”. This inevitably leads to depression. It is therefore necessary to learn to always exploit the residual vision, in order not to lose the life opportunities that one is able to manage.
What do you as an association do to help patients better manage the disease?
In a situation where waiting for a cure is the fixed point in the life of patients, one of our objectives is to provide timely, relevant and accurate information that allows the patient community to be updated on news from research, on the therapeutic possibilities available , on ongoing clinical trials. We publish a quarterly magazine in paper format, cd or email, with a fortnightly or even daily newsletter on occasion. We organize audio conference meetings every 20 days and on digital platforms. These meetings were very important in the period of the pandemic, but they have always provided patients with an opportunity to share problems and discuss how each one deals with them. We also organize two scientific conferences a year in collaboration with our scientific committee chaired by Prof.ssa Francesca Simonelli, director of the Vanvitelli eye clinic in Naples. We have several projects in the pipeline and we hope to realize as soon as possible “Living with a retinal dystrophy”, that is, public meetings in various small towns, with the aim of sensitizing institutions on the consequences of retinal dystrophies, but above all developing in patients and their families an adequate understanding of the pathology that affected them.
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