"When Andrea started the enzyme replacement therapy, which allows him to thrive and live a normal life, we realized that the road ahead is not so difficult, because we have the tools to deal with it. Early detection is the key tool to ensure a life full of energy and interests. Now every day is the most beautiful because we see him growing healthy and strong."
- Andrea suffering from Gaucher disease
"Mare suffers from MTM1 which is a rare and very grave neuromuscular disease. Basically, he cannot breathe on his own and cannot eat through the mouth. Therefore doing anything on their own becomes very complicated. However, since we changed our attitude from -it is too much trouble/it is not worth it- to -we have little time and we need to make the most out of it-, we have experienced and achieved incredible things, such as go to the beach and have him swim."
- Mare suffering from MTM1
"Before starting the treatment I did not realize the reason why I was so tired. In 1988, I received Gaucher's disease diagnosis, and I must say that my condition was at its lowest. Before the therapy, it was hard for me to eat because the spleen and other internal organs were so dilated that I felt my stomach always stuffed, it was hard for me to sleep too, because I could not lie down. After the treatment, I felt brand new, and only then I finally discovered how you can feel good when you are in good health."
- Manuela suffering from gaucher disease
"When you have a rare disease you have to get used to anything... even to have biometric controls always connected to your tiny foot."
- Matteo suffering from SMA 1
"Viola is affected by Pompe disease and from October 2009 to February 2011, we spent 266 days in hospital.
Once we caught the breath and realized what we had to deal with, we softened the blow and we chose the best possibility for us. So we started to live our life at the best as we could. A life unexpected, unwanted and not reckoned in our past predictions, but this is what happened to us and to our daughter. Then, instead of -poor thing- we started to use -good, great, come on, you can do it-.”
- Viola Suffering from Pompe disease
"Alessandro is affected by 1P36 deletion syndrome. As soon as we found out the diagnosis, we had no idea of Alessandro’s abilities. Then, he slowly began to reach incredible results: walking, eating on his own, laughing. I still remember the first time he picked up a toy, for us it was like walking on clouds, it was the happiest moment. Now, together with his teachers and classmates, Alessandro will even take part in the realization of a mural ... unbelievable!"
- Alessandro affected by 1P36 deletion syndrome
"I suffer from Pompe disease and every two weeks I have to come here to Meyer Hospital for therapy. But I do not get bored, now we become a family. I know patients who get the infusion with me and we talk or we exchange advices on how or when using the humidifier in the tracheobronchial! This so relaxed atmosphere, it was only possible thanks to Dr. Donati, who has struggled to let us always use the same room and create this environment."
- Pamela suffering from Pompe disease
"Greta cannot move her body, but her mind goes at the speed of light. Thanks to advanced technology, Greta has an eye-pointer, a computer that she can control through her eyes and which let her to be more independent in the game, without any adult interactions. Now when we play “memory game”, she turns the cards on my behalf… the greatest achievement!"
- Greta suffering from SMA
"Sarah, who suffers from Williams Syndrome, had heart surgery in September 2015. The night before the operation was the longest night of my life. She cheered me up, she hugged me to reassure me and until that time as she closed her eyes, her only concern was observing me with her big blue eyes, to see if I was brave enough, because she wanted to quickly get back to normality, she wanted to soon return to her friends.
Every time I look at her, the only thing I hope is to always see her as a ‘calm fighter’"
- Sarah suffering from Williams Syndrome
"When you are diagnosed with a rare disease, they should explain to you that it will be a hard path.
But they should also explain that you will walk that way, every day, with all of yourself, with all your might without sparing you. This will change your outlook, your horizons, your world. This will give you a path dotted with overwhelming joy."
- Alessia suffering from Pompe disease
"Suffering from a rare disease involves many problems, both physical and emotional. Because a disease is also visible, it causes you double discomfort. Often, you look in the mirror and even though you are not thinking about it at the moment, neurofibromatosis is there, ready to remind you that there is. Especially in this society where outward appearance and
perfection are most important than what you have inside."
- Maria suffering from Neurofibromatosis
"I have some difficulties in walking, I cannot see very well and I have to deal with other difficulties. All due to my syndrome. But I try to ignore them and I focus on something else. And if sometimes my marks are better than those of my classmates, I do not boast, hoping they then do the same once our basketball matches are over."
- GABRIELE SUFFERING FROM MUCOPOLYSACCHARIDOSIS 1
"A son is always a special gift and Luca is a surprise in every sense. He opened for us the door of the disabled people’s world, he let us know a different way of living. It is a daily challenge trying to grow up and to help a child who wants to live at any cost, who wants to be loved and accepted as he is."
- Luca suffering from Williams Syndrome
Not even the long sessions of physiotherapy or cough assist machine can take Beatrice’s smile away!
- Beatrice suffering from SMA 2
"For his health, Riccardo needs an enzyme that his body cannot produce. So, every week we have to go to the hospital for the infusion of this enzyme. I wish there was an easier way to give it to him. I believe and hope that the research will help us to find it. Since the existed therapy is brand new, no one can give us guarantees for the future. In the darkest days, my head is full of questions. It is not easy to live with a question mark in front of you.
In those moments, I take a deep breath and, if I can, I play with him. I try to live in the moment."
- Riccardo suffering from Pompe disease
Get dressed, play games or put your shoes on. Nothing is simple when you're suffering from Smith syndrome. But with a lot of determination, patience and the right support, none of these goals become unreachable.
- Alessandro suffering from Smith Syndrome
"We often thought, after each surgery that we would never see Martina again and every time fortunately she was like reborn and came back to us stronger and stronger and always desirous of living fully."
- Martina suffering from tuberous sclerosis
"At the diagnosis moment, you see only the disease, and your daughter is almost blurred. Then one day I lock eyes with her, almost as if by chance, you find life inside of them, but also something more. It has to do with the imperfection of entire existence, and of course yours too. And with surprise in that imperfection, a very special force emerges and makes you grab the hand of your daughter and feeds the unexpected desire to travel that stretch of time together, until the detachment, until crossroad that separates this part from the Other one. And when the inevitable farewell comes, you only wear the sensation of feel honored to have met her. And then you start thinking about that imperfection, after all, is the most perfect thing you have ever known till now."
- Irene suffering from SMA 1
"When your son has a disability, you have to take into account that he will never be able to achieve certain skills, he will not improve in some areas of developmemt and he will not follow a normal process of growth. On the other hand, you must never give up the prospect that your child can go beyond all expectations and achieve unexpected progress."
- Nicolò suffering from Alexander syndrome
"With my experience, I would like to say to a young thalassemic patient and to his/her parents, that you should never give up, you need to use all the tools you have to get informed, to be aware and optimist. Always. But above all, you have always to keep in mind that you do not need to demonstrate anything to anyone but yourself."
- Laura suffering from thalassemia
Elena suffers from Epidermolysis Bullosa and she knows very well that it takes a lot of courage when your disease forces you to have to deal with needles and doctors since the early days of your life.
- Elena suffering from Epidermolysis Bullosa
"Osteogenesis Imperfecta is a disease that makes your bones weaker. When I was a child, I had several fractures and they took a long time to get healed. Luckily, I suffered from a mild form of the disease and I was able to conduct an almost normal life, despite many restrictions."
- Cristina suffering from Osteogenesis Imperfecta
“Out of suffering have emerged the strongest souls; the most massive characters are seared with scars.” - said Kahlil Gibrain - Well, I can say that this sentence is really representative of my life and my path.
- Elena suffering from Achondroplasia
Francesco suffers from Slo syndrome, but there are passions that go beyond any other syndrome. And singing is one of them!
- Francesco suffering from Slo syndrome
"Something happened when I was four. My parents bought me pants and the next day they did not fit anymore because of spleen enlargement ... So we began to investigate, and we discovered my illness”
- Luigi suffering from Gaucher disease
"Suffering from Epidermolysis Bullosa means living a life made of painful medical treatments, Day Hospitals, pureed foods and sacrifice. But it means also living a life made of Love. As a mother, I rejoice in seeing my son eating, in getting a good mark, in playing Playstation and laughing out loud with his virtual friend.”
- Alessandro suffering from Epidermolysis Bullosa
"When he was younger, Simone didn’t accept so easily plaster casts used to realize specifically shaped braces for him, but growing up, it has become natural."
- Simone suffering from SMA
How many overnight journeys to the hospital for Sebastian. Sometimes real journeys of hope due to his critical condition.
His parents named him "Sebastian the Bullock" because of his strength and ability to bounce back from even the most desperate situations.
- Sebastian suffering from SMA1
"Having a disease that is not visible it makes you often feel misunderstood."
- Tommasina suffering from thalassemia.
"I can live thanks to blood donation and scientific research. Having a chronic disease means being able to overcome your limits every day and enjoy every second of your life. For this reason, I have always considered myself as rare and unique.”
- Loris suffering from Thalassemia
"Due to his disease, the Mowat-Wilson syndrome, Elia is 12 and he can’t speak. But thanks to the augmentative and alternative communication we’ve been able to establish a real dialogue with him. Now Elia can actively participate in every day activity”.
- ELIA suffering from MOWAT-WILSON syndrome
"The first two years they treated me with cortisone and it was very hard. I did not sleep at night, I was nervous, but I went ahead anyway and the next morning I was always on time to work."
- MICHELE suffering from IPF
"Marie suffers from Osteogenesis Imperfecta, even a slight bump is enough to provoke her a fracture. Today we have gone to the hospital with her to check a suspected fracture."
— Marie suffering from osteogenesis imperfecta
"Maggie is good and empathetic by nature, also because of her syndrome. If she sees someone arguing with someone else or if she sees someone sad, she gets sad in turn. Otherwise she is always positive and happy. If everyone were like her, it would be a better world."
— Maggie suffering from williams syndrome
"I did this tattoo last year a few hours after my dog had died. It was the only living being that could make me happy and make me feel relaxed when I came back home from medical treatment completely destroyed."
— Nicklas suffering from Pompe Disease
"Julia is mentally disabled due to tuberous sclerosis, but she has a very strong desire to be able to manage on her own during daily life."
— Julia sufferin from tuberous sclerosis
"I am a patient suffering from Fabry disease and a nurse at the same time. It gives me a lot of satisfaction to help others and I like to treat patients as I would like to be treated by my self."
— Christina suffering from Fabry disease
"When we did not suspect Charline disease yet, I got pregnant with twins and we were lucky because now our home is always lively and Charline has always someone to play with!"
— Charline suffering from rett syndrome
"This is first of all a school of acceptance. We have students affected by any kind of pathology, students from any social and ethnic background. Diversity, here, is our main source of wealth."
— luis suffering from pseudo-achondroplasia
In the morning it’s necessary a very close-knit team to be ready in time for school!
— Tomas suffering from Emery Dreifuss Muscular Dystrophy
"Now I can not walk a lot. I use Google Earth to explore the places where can not go to."
— Angela suffering from Pompe disease.
Due to the suffering from osteogenesis imperfecta, Lucia always has to be accompanied: only a slight fall could cause her an unpleasant fracture.
- lucia suffering from osteogenesis imperfecta
"What I hate most is the uncertainty about the future of my care. Every six months, Romanian Government decides whether to cover the cost of care for my illness for the next six months. Now my last six months guaranteed are going to expired and I still do not know if the government will renew the covers for the next six months."
— Daniela suffering from GAucher Disease
"Among the consequences of Fabry's disease there is a constant fatigue. Even in doing the simplest gestures.
Therefore, it is essential to have support from those who love us."
— Roman old suffering from Fabry’s Disease
"During the first year after we found out about Ola’s disease, I was distraught and always in tears. This kept transmitting sadness and distress to Ola, which is something unusual for someone affected by her syndrome. Then one day I decided I had to be strong and start feeling happy again. As a result my daughter started feeling happy as well, with me! She’s incredibly improved! Now, we only want colours around us…"
— Ola affected by Leigh Syndrome
"I look at the physiotherapist who helps me during my therapy and I start thinking that I must live with this disease for all my life."
— Annalisa affected by Lymphedema.
"The human body is a box. It is important. But it is what is inside the box that will surprise you!"
— Federica suffering from neurofibromatosis.
"You can get used to anything in life, even to being paralyzed.
After a while, it just feels normal.
Yet, sometimes, I still wish I could cuddle my dog."
— Laura affected by SMA
"The effects of a disease are not always visible. So when you’re walking down the street just don’t judge people too easily or too fast. There could be something like a rare disease hiding behind the person you see."
— Marlou suffering from Fabry’s disease.
"Barbies are annoying: they’re so perfect that they end up making you feel like you’re ugly!"
— Rebecca suffering from SMA
"I have a Fragile-X son. In the back of my mind I’ve always had him. I realize now, I was just waiting for him."
— Giuseppe suffering from Fragile X Syndrome
"Always believe in your children’s potential.
Stop thinking about their limits; they will find ways that we can’t even imagine."
— Matteo and Antonio both affected by Fragile X syndrome