- In Italy, there are regional parliaments that are responsible for certain issues, including health issues.
Translated from the original Italian version.
Chiara is a Sicilian student in her fifth year of medical school. The 23-year-old wants to specialise in anaesthesia and resuscitation in the future. Chiara knows the suffering of sick people, not only because of what she experienced during her internships at university, but also because she herself suffers from a variety of rare diseases. We want to share Chiara's unique life story because her story is similar to that of many other patients suffering from rare diseases, and which often are invisible stories of invisible diseases.
esanum: Chiara, which diseases do you specifically suffer from?
Chiara: The list is long: Ehlers-Danlos syndrome, Arnold-Chiari malformation, tethered spinal cord syndrome (TSCS), craniocervical instability (CCI), malformations at the craniocervical junction, Postural Orthostatic Tachycardia Syndrome (POTS), Complex Regional Pain Syndrome (CRPS, previously known as RSD), Mast Cell Activation Syndrome (MCAS), adrenal insufficiency (also known as Addison's disease), mitochondrial disorders, interstitial cystitis, endocranial hypotonia, neurogenic bladder, diabetes insipidus, gastroparesis.
esanum: Can you tell us your story from the beginning?
Chiara: I was born in Sicily, in a family like many others. I have a sister called Laura, with whom I spent most of my childhood. Up to a certain point, I experienced a normal, quiet childhood, like many other children.
Around the age of six, the first health problems began. I developed urination difficulty, headaches, visual disturbances. The main symptoms were urological: microhematuria, oxaluria, pain in the iliac fossa. My parents and I started travelling all over Italy to find out what disease I was suffering from and how to cure it. However, many doctors seemed to pay little attention to my case and did not address my clinical condition as a whole. For example, my urinary tract disease was underestimated. Today I am wearing a suprapubic catheter, which perhaps could have been avoided.
The older I got, the worse my clinical situation became. The trips to the most diverse medical experts inside and outside of Italy continued, but we always returned home without a clear diagnosis. My clinical picture upset the diagnostic process of many doctors, who often came up with unconvincing hypotheses. Sometimes some even feared that what was happening to me was a figment of my imagination. At the age of 12, I had emergency surgery for bladder overflow. I was in hospital for four months with a bladder catheter, without intermittent catheterisation. I came out of the hospital with no diagnosis except that I had major unspecified psychological problems. The head physician of a large medical centre also suspected that I was suffering from a probably incurable neuropsychiatric disease, which was very difficult to diagnose and for which I would have had to stay in hospital indefinitely.
Fortunately, my parents did not give up. Thanks to their persistence, and years after the first symptoms appeared, we finally found someone who started talking about the Arnold Chiari malformation. That was a first step, but unfortunately many of my symptoms seemed incompatible with this diagnosis. I was a young girl when I had an operation in Spain to treat what was diagnosed then as TSCS. According to the doctors, this operation was supposed to be decisive. After the first few months of feeling well, I got worse again. I continued to have bladder problems, headaches, absence episodes, diabetes insipidus. I needed a nasogastric tube to be able to eat and I needed a wheelchair because I couldn't walk. It was a very hard time for me.
Then came the email from Dr. Paolo Bolognese, a neurosurgeon at the Chiari EDS Center in New York. He had received the MRI scans my parents had sent and suggested a video conference to discuss my case. That evening, during this remote consultation, it was first hypothesised that my symptoms were due to craniocervical instability (CCI) associated with Ehlers-Danlos syndrome. The diagnostic hypothesis was confirmed by the positive cervical-axial traction test. He suggested occipitocervical fusion surgery to biomechanically stabilise the craniocervical junction. We had to go to New York, there were huge costs, I was scared, but I finally had my diagnosis. About 7 years had passed since the beginning of my ordeal.
esanum: What do you remember from the time when you were ill but did not know what disease you were suffering from?
Chiara: I was a child. I remember that we were always travelling. I was physically sick and tired of being labelled as a spoilt and capricious child. It was a really hard time for me and for my whole family. I always had confidence in my parents. They never lost heart, they never gave up, even when they were told I had to be put away. Everything changed when the confirmation of my diagnosis arrived, after the consultation with Dr. Bolognese. The day after the diagnosis, my illness didn't change, my symptoms didn't change, but we ended up with this feeling of being lost, the nightmare of being in a dark tunnel where you walk and walk but never find the light at the end of the tunnel. Not knowing what disease you are suffering from is devastating not only psychologically but also in daily life terms. The later the diagnosis is made, the later the treatment begins.
esanum: What feelings come to mind when you think about your first trip to the United States?
Chiara: My first trip to the United States is an experience that I find difficult to forget. I was not well at all, my family had to pay very high costs: travel, healthcare, hotel, and nobody knew what would happen after the surgery. Thanks to the generosity of my town, which organised a fundraising campaign, and the intervention of the Region of Sicily1, we were able to raise the money for the operation. I was a little girl, I was sick, I was on the other side of the world, with so much hope, but also with a lot of fear.
But everything went well. Immediately after the operation, my clinical condition improved rapidly. Already in hospital, I could eat again without needing a nasogastric tube. I went home happy, with the feeling that I had taken my life back in my hands. I could walk, eat, and had no pain that prevented me from living a normal life; I was finally "healthy". I started going to school again. That lasted for about three years.
esanum: And then?
Chiara: My neurogenic bladder problems were not resolved. I underwent several examinations and tests and was finally offered surgical implantation of a sacral neuromodulation device. The doctors who operated on me knew about my general clinical condition, yet I suffered a cardiac arrest in the operating theatre. The cardiac arrest was probably caused by an incorrect intubation procedure, which in my case should have been done using the nasotracheal technique. I recovered from the cardiac arrest without immediate consequences, but after a short time a number of disturbing symptoms appeared: high fever, difficulty swallowing, headache. The neurosurgeon informed me that the fusion of the cervical spine had probably been compromised during the intubation manoeuvre and cardiopulmonary resuscitation. It was necessary to start again. The problem was that I had not been stable for long periods since. The same pattern repeated itself cyclically: a new trip to the US, a new operation, a period of wellbeing and then relapse. Again and again the symptoms came back.
esanum: What was your life like at that time?
Chiara: I was in high school, but my life was not that of a girl attending one. I only managed to attend the first two years. Then I started travelling to the US all the time and couldn't attend classes regularly. When I was in Italy, I often participated in a homeschooling programme. My teachers would come to my home and give me private lessons. They were so close to me during this time that, humanly speaking, it was a wonderful experience.
As a human, I received so much. The fundraiser organised by my parish was also a truly unique experience that will always stay in my heart. The people of Caltanissetta opened their hearts to me and helped me. Even today, they remember that moment when they meet me on the street. It was an intense moment for the whole community.
esanum: What role did your family play in this phase of your life?
Chiara: When I'm here and struggling, I owe it mostly to my mother and father. They never gave up, despite the many difficult moments and the many doors that were slammed on my face. My mother is very religious, she finds so much strength in God. In our family we are all believers, but I think the greatest strength we have is the one we give each other. Mum and dad are always with me in everything I do. They have also started an association, "The Wings of Hope" (Le ali della speranza), to help me and all those who, like me, live with Ehlers-Danlos Syndrome and all the diseases associated with it.
Then there is my sister Laura. My sister and I are very close. Because of my constant travels to the United States, there are long periods of time when we don't see each other. I suffer, she suffers - but we always stay in touch, which helps us feel less distant. She has a similar clinical picture to mine, but fortunately she doesn't have any major symptoms at the moment and doesn't suffer from the same disability as me.
esanum: What do you think was the biggest difficulty in diagnosing your case?
Chiara: My disease is rare, probably one of the rarest diseases ever. It is not easy to make a quick diagnosis in a case like mine, but waiting for years is not acceptable. We need research, we need adequate training of doctors, we need common guidelines, we need an effective communication network. First and foremost, rare diseases need to be given the status of a treatable disease - just like any other disease. If I had been diagnosed earlier, my life might be different, better today.
esanum: When did you decide to become a doctor?
Chiara: I have dreamed of becoming a doctor since I was five years old. More precisely, I dream of becoming an anaesthetist. My mother always remembers me saying that I wanted to be an anaesthetist when I was a child. I don't know where I first heard that word, and I don't know why it fascinated me so much. But I do know that it has been with me constantly over the years.
After high school, I went to the United States for medical exams. I remember logging on to an internet platform every night to practice for the medical test. I studied hard during that time to pass the test and be admitted to medical school.
esanum: Do you have a special memory in connection with studying medicine?
Chiara: A very bad memory. Shortly before the date of the medical exam, I started to suffer from diplopia. I then asked to be supported by a tutor during the exam so that I could get help when I had difficulties reading the questions. Unfortunately, at the end of the exam, the tutor put my test in the wrong folder, the one with the biographical forms. The chair of the exam board said that the folders could not be opened to correct the mistake immediately, but I was told that my test would be corrected anyway. The exam was never corrected and was eventually declared invalid.
In order not to lose a year, I enrolled at the Enna branch of the "Dunarea de Jos" University, where I am now attending the fifth year of the Medicine and Surgery course.
esanum: Can you tell us something about your university life?
Chiara: I remember clearly my first two years at university. Everything went well, I was fine and I was able to attend classes every day. Already in the first year we started the internship at the hospital and I had no problem with going to the different wards. I liked wearing the gown, it was a small piece of my big dream coming true. It was not easy to attend classes, go to the hospital, study, take exams, and manage my illness. Nothing is easy in my condition. But I have always tried to overcome every obstacle in a brave manner.
If I am honest, the attitude of some professors got me into trouble the most. They sometimes made me understand in no uncertain terms that I had to leave the university, that I had to give up the idea of becoming a doctor because my only place in the hospital was that of a patient. Fortunately, they were few, but they left their mark.
esanum: Have you ever experienced anything similar with your classmates?
Chiara: There were no problems at all with my classmates. They have always been there for me. Even today they are very close to me, I have never had any conflicts with them.
esanum: What happened after the first two years at university?
Chiara: The COVID 19 pandemic unfolded, the lockdown, the distance learning. It was a difficult year for everyone, but I still managed to attend the classes and prepare for my exams. I was not well, but I did my best not to fall behind.
Last September [Editor's note: September 2022], at the beginning of my fifth year, I asked to take classes remotely. My health condition had deteriorated again. Unfortunately, the university denied this option to me. The motivation? "If we make you do it, then we will have to make everyone do it". It seems an unreasonable reasoning in my opinion, because I am in a wheelchair and feed myself through a nasogastric tube. This is not the condition of 'all' students.
After the last craniocervical fusion surgery in November 2021, I was fine for a few months, but then the symptoms returned. Once more, I can't walk, I can't eat, and I'm in pain. I will have to undergo surgery again in the hope that it will improve my condition for a longer period of time. At university, I have asked for a temporary permission to attend classes online - for a reason that I believe is justified. I did not ask to be exempted from practical training, which I can catch up with when I am better.
I will have another surgery, and the craniocervical fusion will probably have to be moved down; I am confident that I will get better. From September until today, the university has not changed its mind. That's why we took the matter to court and are now waiting for a decision from the judge.
esanum: And in the meantime?
Chiara: In the meantime, I attend classes, with many difficulties. I live in Caltanissetta, the university is in Enna. Every day I travel forty minutes by car. Theoretically, I should rest so as not to strain my spine. Nevertheless, I go to class, at great sacrifice and without being able to manage the tube feeding as I should, because I am not at home but in class.
This is a big sacrifice not only for me, but also for my parents who drive me and pick me up every day. They have a job, a family, many problems, they too have to overcome obstacles that would make no sense in a just world. I have no alternative because there is no public transport that is suitable for my circumstances and would allow me to move around independently. They don't exist and no one thinks of creating them. I try to reciprocate my parents' effort by struggling, by doing my best. Unfortunately, not only is this not easy, but this condition threatens to jeopardise my medical condition.
esanum: What will your life be like after graduating from medical school?
Chiara: I always hope that the next operation will be the decisive one that will allow me to take control of my life again. At least for more than a handful of months. I imagine a normal life, living away from home, why not? I would like to be able to do a medical residency, even in another city. Go to hospital, study, learn to be a doctor. Now that I'm confined to a wheelchair and can only eat with difficulty, that seems impossible, but I'm not giving up.
esanum: Besides some professors, do you think there are future medical colleagues who think you should give up the idea of becoming a doctor?
Chiara: I want to be a doctor, an anaesthetist and a reanimatologist. I try hard not to think about what others say. As long as there is even the slightest chance of success, I will work hard. I want to give back what so many have given me and I believe that being a doctor will help me do that. I believe I can become a good doctor. I want to do my small part to make sure that everyone gets a diagnosis and is treated in the best possible way.
I believe that those who have suffered so much from their illnesses, like me, can give the medical community a different perspective and perhaps help to improve the way sick people are treated, especially those patients that do not mould into a certain pattern.
The fact that I am sick, that I am in a wheelchair, does not allow anyone to decide what I can or cannot do. For me it will probably be more difficult and exhausting than for someone who is healthy. Those who live with a disease like mine should be helped, not hindered. Even if it is only with words, they should be encouraged. Everyone has the right to build their own future.
esanum: One of the walls in your room shows a sentence: "Make your life a dream and your dream a reality" [“Fai della tua vita un sogno e del tuo sogno una realtà”]. Is that what you are doing?
Chiara: That is what I try to do. I think if we stop dreaming, we can hardly look beyond the limits and go beyond them. I have had so many difficulties in my life, and if I had stopped looking at the reality of things, I would have found it difficult to find the strength to open my eyes every morning.
Everything I do, the energy that permeates me, comes from my dreams. I get up every morning because I have a dream, because this dream gives me the strength to go on. The desire to realise this dream helps me - despite everything. Some dreams are destined to remain dreams. I don't know what will become of me, but what I do every day is to make my dreams come true.