Tobia, 8 years old, suffers from one rare skin disease from genetic, not contagious: “harlequin” type ichthyosis. His skin And extremely delicate: if it is not constantly hydrated, it tends to become very dry And thickened until «split», with the risk of becoming infected. His body cannot regulate the temperature: if it gets too high in the summer, it can cause heat stroke, while in the winter, if it gets too low, it can cause hypothermia.
Life at risk
«When my son was born, prematurely, he had a double layer of leather on the hands and like one sort of “socks” on the feet, so the doctors immediately suspected that he had a health problem – recalls his mother, Debora -. They immediately took him to neonatal care and for 48 hours we had no news.”
Added to the missed joy of holding the newborn baby is the shock for the parents of discovering that the little one has a rare genetic disease. without care and could risk his life. «They did the test and discovered that Tobia has ichthyosis – says Debora -. For almost three weeks we had no contact with the baby, who was kept in the incubator to keep his skin moist and therefore prevent it from drying out and, as it dried out, cracking and, when cracking, becoming infected. An infection in the first weeks of life could be fatal.”
Travel friends
The diagnosis of a rare disease, as often happens, causes a sense of loneliness and uncertainty.
«The meeting with the Uniti association (Italian Ichthyosis Union) was important, because it allowed us to discuss with other parents and adults who have the same disease as our son, reassuring us about his life prospects – says the mother of Tobit – . We had the opportunity to meet new travel companions.”
Life-saving products but you often pay for them
Since birth, Tobia’s life has been marked by daily baths and applications of emollient and exfoliating creams to hydrate the skin and remove thickened skin. Products which, however, families often have to payalthough congenital ichthyoses are included in the list of rare diseases (Annex 7 of the Lea update Prime Ministerial Decree – Essential levels of assistance), which give the right to exemption from the ticket for all appropriate services for the treatment and monitoring of the pathology and for the prevention of further aggravations.
«For the first three years we have received at the expense of the Health Service products that only took 3-4 months – remembers Debora –. These are not simple cosmetic treatments but life-saving products for our children, prescribed with the therapeutic plan by the specialists of the hospital that takes care of the patient. However, – reports Tobia’s mother – there are regional provisions that identify certain Ts for rare diseasestypes of products and not otherstherefore only products recognized by the patient’s region of residence are paid by the Health Service”.
Sometimes not even those, since even the individual local health authority denies free supply, believing that they are services «extra Leah», i.e. services in addition to the essential levels of assistance, which can only be provided by the Regions that are not in the recovery plan.
«There is an infringement of the right to health, which travels at multiple speeds, because there is a discretion on a regional basis – and also of the local health authority – which prevents many patients from obtaining the minimum amount of products for at least acceptable management of the pathology. » points out Tobia’s mother.
For years the Uniti association has been fighting to include dermocosmetic products, considered indispensable and life-saving – like medicines – within the LEA, so that sick people are exempt from sharing the cost. So far without success.
Prejudices and discriminations that hurt
A recent study published in the British Journal of Dermatology involving a sample of people with ichthyosis in France, Italy, Spain and the United Kingdom highlights that patients with visible skin disease often face discrimination and stigmatization due to their condition. Respondents reported, among other things, that people often avoid touching them, they also feel isolated from their friends and their emotional life is significantly affected. 84.7% say that ichthyosis interferes with their personal life and, especially for those who have the disease visible on their hands and face, it also has a strong impact on their professional life (72.5% of those say this interviewed).
The illness It “can be seen” immediately, but it is not contagious
Tobit is a child like the others: he goes to school, he likes to play, go to the swimming pool. But it’s not a simple life for him, nor that of other people who live with ichthyosis, disease that “it shows” immediately. There are still those mistakenly fears contagion.
«The aesthetic aspect of the skin is the first visible when we come into contact with others – says Debora -. In general, Tobit’s erythroderma is not so evident but, when it starts to get very hot, it becomes like a red traffic light. And it happens that on the street they ask us: “But did the child get burned? Did he stay in the sun too long? At the beginning we tried to explain, today we leave it up to Tobia to choose whether to answer or not. What is often not known – continues Debora – is that, for example, people with ichthyosis they don’t sweat as their thermoregulation system does not work: when they perceive heat or coldI’m already in an advanced situation of discomfort and they can face heat stroke and in winter tohypothermia. My son senses that he is particularly hot and he needs to get cool only when it has already turned fuchsia and the heart begins to beat much faster. The same happens when it is very cold. As parents, we try to prepare and inform the people we meet in various contexts, from school to the swimming pool.”
The association has also created a booklet “Living with ichthyosis”, a sort of handbook aimed at teachers to encourage the inclusion of children in nursery and primary school.
Awareness campaign “Walking for ichthyosis»
May is the month of awareness on ichthyosis: patients from all over Europe who join the European network of Eni associations (European network for ichthyosis), with the support of the Uniti association in Italy, they launched the campaign #walkingforichthyosis to raise awareness about this rare genetic disease which is not contagious. Anyone wishing to support the initiative is asked to do at least 10 thousand steps and post on your social profiles, as a sign of solidarity, a photo or video showing your pedometer with the number of steps taken, inserting the hashtag #walkingforichthyosis.
In Italy, as in other European countries, then, patient associations ask institutional representatives to promote concrete support for scientific research aimed at finding a cure for the disease and to ensure that one is guaranteed better assistance to all the sick.
