Rare diseases, the story of Floriana and her invisible pain

Itching, pain and a seesaw of symptoms that come and go leaving sufferers at the mercy of the disease often in solitude. This is the experience of people who live with generalized pustular psoriasis (GPP – Generalized Pustulosis Psoriasis), a serious rare skin disease whose diagnosis is often delayed and which can also require frequent hospitalization, with heavy consequences on everyday life of patients which can in turn lead to mental comorbidities such as anxiety and depression. Themes that were discussed during an event recently held in the Senate which was an opportunity to highlight the still unsatisfied needs of patients and to launch the campaign ‘On My Skin: living with GPP, a project promoted by Boehringer Ingelheim Italy with ADOI – Association of Italian Hospital and Public Health Dermatologists-Venereologists, SIDeMaST – Italian Society of Dermatology, Venereology and Sexually Transmitted Diseases, APIAFCO – Italian Psoriatic Association Friends of the Corazza Foundation and OMaR – Rare Disease Observatory. To understand more concretely what it means to live with GPP, we have collected the testimony of Floriana, a young 43-year-old woman who lives in the province of Lodi and has ‘stumbled’ into this pathology which today also prevents her from working.

From psoriatic arthritis to GPP

Given the heterogeneity of the symptoms, making the diagnosis of generalized pustular psoriasis may not be easy: “In 2007 I started feeling sick, for months I had very strong pains that forced me to stay in bed and then at a certain point the diagnosis of psoriatic arthritis but I’ve always been told it was an atypical form”, says Floriana who adds: “It is currently in the active phase but there is nothing visible because I am being treated with a biological drug which keeps it under control ”. Over the years, during the suspension of another therapy that Floriana was following, the disease recurred: “It was only last year – continues the woman – that the rheumatologist reported that it was pustular psoriasis” .

Visible and invisible symptoms

Generalized pustular psoriasis (GPP) is a serious inflammatory skin disease and is mainly characterized by episodic skin rashes associated with the widespread formation of pustules in various parts of the body: these attacks, which can occur with or without systemic inflammation and be accompanied by fever chills, headache, rapid heart rate, loss of appetite, nausea, and muscle weakness usually resolve within days to weeks but tend to come back over time. GPP can appear at any age but in most cases it begins in adults. “Although for a while it was not visible, over time my psoriasis decided to ruin me ‘internally’ with pain, inflamed joints and enthesitis. Today I find myself with tendons completely damaged by enthesitis and water in my ankles”, explains the patient.

The weight of loneliness and renunciations

But those who suffer from this pathology must also deal with the stigma. “The disease – explains Floriana – is much more unpleasant when it is visible and it happened to me too: you go around thinking that those who see it do not ask what it is, but if they should stay away and if it is contagious. You perceive the disgust of people and you close in on yourself”. And the symptoms don’t help to find the strength to react and make an effort to lead a ‘normal’ life: “Gpp weighs a lot in daily life because even when it doesn’t show on the skin the pains are constantly present, my feet and wrists are swollen and even just household chores become really complicated having fibromyalgia is even more complicated”, explains Floriana who had to give up work precisely because of the disease: “I am a full-time mother since office work with my skills it is difficult to find and due to pathology I cannot carry out heavy work or work that requires shift work”.

More attention and disability

In short, life is not easy for these patients and there are still many unmet needs. What is needed? “First of all really trained doctors: I confess that in some moments seeing doctors in complete silence in the face of my symptoms almost amused me if it weren’t a serious thing in itself and then creams, ointments and the various galenic preparations that are prescribed cost a lot of money and not everyone has the means. I would also like this disease and in any case also classic psoriatic arthritis to be evaluated differently for each case and a percentage of disability higher than 50% to be recognized”.

Pilates and psychological support

What emerges loud and clear from stories like this is that patients need information and knowledge, to be able to count on a relationship of trust with their doctor, because the treatment path is long and the response to drugs is not always immediate and effective. “However, I would like to give a message of hope: there are serious specialists who can improve the situation and prescribe the right therapies in good time. It would be very useful to be able to count on psychological support and then doing yoga, pilates, gentle gymnastics and using relaxation techniques is good for the body and mind”.

Pustular psoriasis in Lea

Precisely to create awareness of this extremely rare and serious skin disease and the desire to network to support patients, a coalition was born between patient associations, professionals, scientific societies, companies and institutions, with a common goal: to bring discover the needs of people affected by the disease and provide them with answers. “The Consolidated Text on Rare Diseases represented an important turning point for the care of rare patients but there is still much to be done”, declared Senator Orfeo Mazzella, president of the parliamentary Intergroup of rare diseases and oncology during the course of the event during which he also announced his intention to present a parliamentary question for the integration of GPP in the list of rare diseases of the Essential Levels of Assistance (LEA): “This disease, although included in the portal of rare diseases , does not yet have an exemption code, so taking charge remains relegated to chronic aspects only. This means that, should a diagnostic doubt arise, patients are forced to bear all the costs for any diagnosis, not being able to make use of the support of specialized centers in the area”.

The ‘On My Skin: Living with GPP’ campaign

Among the unsatisfied needs linked to GPP there is also that linked to the need for greater awareness and information regarding the path taken by patients and their experiences. For this reason, the ‘On My Skin: Living with GPP’ campaign is about to start, a project promoted by Boehringer Ingelheim Italy, ADOI – Association of Italian Hospital Dermatologists-Venereologists and Public Health, SIDeMaST – Italian Society of Dermatology, Venereology and Diseases Sexually Transmitted, APIAFCO – Italian Psoriatic Association Friends of the Corazza Foundation, OMaR – Rare Disease Observatory, which aims to turn the spotlight on the impact of GPP on the health and lives of people affected by it, inviting the public to put themselves in their shoes .

The statues of the Unwearable Collection

The initiative is inspired by the Unwearable Collection, a collection of statues created by the American artist Bart Hess, which represents some of the most painful aspects in the life of patients with GPP: loneliness, physical pain, the threat of life, the burning it is experienced during exacerbations. The campaign will see the active involvement of the students of the Milan Academy of Luxury and Fashion, who will design garments representative of patients’ experiences and the need for solutions. The works selected by a jury of experts will be presented during Milan Fashion Week in September, during which the statues of the Unwearable Collection will also be exhibited for the first time in Italy.