Rare diseases, story of Veronica who no longer wants to be ‘invisible’

Rare diseases, story of Veronica who no longer wants to be ‘invisible’

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The backpack is for Veronica like the blanket for Linus: they are inseparable. But unlike the iconic object from the comic created by Charles M. Schulz, the backpack is truly vital for her: “Without it, I would have to stay at home attached to a pole and a pump for 16 hours and I couldn’t live.” Veronica, in fact, suffers from chronic intestinal pseudo-obstruction, a rare disease that affects the gastrointestinal system and which has deprived this young woman of the possibility of both eating and drinking.

In view of World Rare Diseases Day on February 29th, the rarest day on the calendar, Veronica shares her condition with Salute by telling how one lives with such a disabling pathology also on a social level.

Ten years of waiting for the diagnosis

Veronica, who is now 31 years old, began to feel ill at the age of 14 and was hospitalized several times for a long time, but unfortunately the diagnosis only came years later. “After a decade of ordeal which partly still continues, the diagnosis came when I was 25 and since then I have dedicated a large part of my day to managing this pathology”, says the girl from Rome. There Cipoor chronic intestinal pseudo-obstructionis a rare disease that affects the muscle movement (motility) of the intestine, causing symptoms similar to those of an intestinal blockage but without an obstructive physical cause.

The disease is characterized by a number of chronic gastrointestinal symptoms such as abdominal pain, bloating, nausea, vomiting and inability to eat normally, leading to malnutrition and weight loss. It may be caused by abnormalities of the intestinal nerves or muscles or may have a genetic basis. Management of Cipo is complex and may require medications, parenteral nutrition, and, in severe cases, surgery or procedures to manage symptoms and improve quality of life.

Sitting at the table is a nightmare

One of the most disabling consequences of the disease that struck Veronica is the total impossibility of eating and drinking. “In my case – says Veronica – Cipo prevents me from ingesting any kind of food or liquid. If I’m thirsty, I can only wet my lips”. To better understand how this aspect of the disease affects everyday life, I ask Veronica to describe one of her ‘typical days’ for us.

“Starting from the assumption that it is almost impossible to have regular sleep due to pain – he explains – my days have no real beginning and end. Every day I have to prepare nutrition by inserting vitamins, in the most sterile environment possible, and then connect, around eight o’clock, to the infusion pump through a central venous catheter. After about sixteen hours I can disconnect to switch to a drug called pantoprazole, which in turn requires a delicate procedure lasting a couple of hours”.

Therapies and chronic pain

But it doesn’t end here because Veronica has to do an intestinal wash at most every two days which takes about an hour and also once a week it is necessary to disinfect the catheter which is always at risk of infections which are one of the main related causes of death to this type of disease. Another important aspect is that of chronic pain which we must learn to live with on a daily basis.

“In addition to trying to counteract them – continues the girl – the use of an infusion pump for total parenteral nutrition and other auxiliary drugs, always taken intravenously, together with other activities to maintain physiological balance is fundamental for me. All this it has completely turned my life upside down and prevents me from carrying it out normally. Furthermore, there are many bureaucratic difficulties both with the health system, with the INPS and with the various local health authorities which, sometimes due to incompetence, others due to bad faith, have caused me no less suffering.”

How much it hurts to feel invisible

Dealing with a rare disease with invisible symptoms can sometimes be frustrating because – despite the backpack on your shoulders – chronic intestinal pseudo-obstruction does not force itself on the attention of others since it is not linked to motor or intellectual limitations.

This invisible disability is also told in a video which is part of the awareness campaign created by OMaR – Rare Diseases Observatory on the occasion of World Rare Disease Day 2024 entitled ‘Just be patient – Rare people, universal rights’. “The fact of having an invisible pathology – Veronica says with a bit of frustration – makes me feel very often that it doesn’t happen and this makes me very angry because it seems like I have fewer rights than other patients. It happens because people look at me and don’t notices nothing.”

The comfort of Japanese music and literature

Despite this, she doesn’t give up and tries to enjoy the beauty of life by dedicating herself to her hobbies such as music, reading, cinema and art in general. “In this way I try to look for new stimuli to move forward and keep my mind active. In particular, in this period I have become passionate about 20th century Japanese literature because it often deals with strong themes such as death and sex, and an essay from Nobel Prize winner for medicine Konrad Lorenz. Basically, however, I have a somewhat depressed mood and some problems, in particular with the INPS which has reduced the percentage of civil disability and the recognition of economic benefits. This makes me feel also misunderstood by the institutions”.

The support of friends and relatives

What was the role of family, friends and doctors in your journey with Cipo? “Some friends have always been there while others, as often happens, have moved away”, she replies. “My family, on the other hand, has always been there without ever making me lack financial support, even though they are not in the deep end, given that public healthcare does not always cover all the patient’s needs and it is necessary to turn to the private sector. as far as doctors are concerned, I rarely found the support I needed, indeed, I was often not taken seriously, but at the Sant’Orsola hospital in Bologna, where they still follow me, I felt more welcomed: a moment one thing I remember was when the doctor diagnosed me with the pathology, adding that I wasn’t crazy, as others had told me: at that moment I felt relieved like never before.”

Initiatives for World Day

In Italy, there are over 2 million people affected by rare diseases, of which 1 in 5 is under 18 years of age. In 2022, over 35 thousand reports of new diagnoses were received by the National Rare Diseases Registry of the Istituto Superiore di Sanità and the Rare Diseases Toll-Free Telephone (800 89 69 49) received 5,411 calls in the two-year period 2022-2023.

Many initiatives such as the #UNIAMOleforze awareness campaign created by Uniamo – Italian Federation of Rare Diseases with electric buses in the colors of Rare Disease Day through the streets of central Rome. OMaR – Osservatorio Malattie Rare has, however, created the campaign ‘Enough to be patients – Rare people, universal rights with 4 video testimonials whose protagonists – Veronica, Alessandro, Roberta and Gabriella – are real faces and stories that tell of daily life, the obstacles, the challenges and their desires. And it is also by taking inspiration from their stories that collective action is born: a ten-point petition to move towards effective recognition of universal rights and a new awareness of public opinion.

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