SPORT, WELLNESS AND POLAND SYNDROME: this is the theme of the next AISP event dedicated to children and adults to be held on 1 April 2022 starting at 2.00 pm at Simon Boccanegra Castle, San Martino Polyclinic Hospital in Genoa

With the patronage of: S. Martino Hospital of Genoa, Uniamo Italian Federation of Rare Diseases onlus, University of Genoa, Gaslini Institute of Genoa.

Sport is recognized as an excellent tool for the integration of minorities and groups at risk of social exclusion. The SPORT WELLNESS AND POLAND SYNDROME event, organized by the Italian Association of Poland Syndrome (AISP), aims to evaluate the risks and benefits of practicing sports in people with Poland Syndrome, a rare disease that affects the muscle-skeletal system of the thorax and upper limb. There will be interventions by specialists in the orthopedic, physiatric, neurological, radiological, psychological and medical-sports sectors as well as the story of the personal experiences of some patients.

If you too are a person with Poland syndrome and you practice some sport at a competitive / amateur level or you deal with wellness, write to segreteria@sindromedipoland.org to share your experience with us!

SPORT, WELLNESS AND POLAND SYNDROME

APRIL 1^ST, 2022

SCHEDULE

2.15pm OPENING – AUTHORITIES GREETING AND ACKNOWLEDGEMENTS

2.35pm – POLAND SYNDROME

2.45pm – ANATOMY OF MUSCULOSKELETAL DEFICIENCY IN THE CHEST AND UPPER LIMB

3.30pm – FUNCTIONAL EVALUATIONS

4.15pm – SPORT, WELLNESS AND DISABILITY

4.45pm – IO DO UNA MANO (no profit organization)

5.00pm – TESTIMONIALS

6.00pm – PSYCHOLOGICAL AND SOCIOLOGICAL ASPECTS OF SPORTS PERFORMANCE

6.30pm – VIDEO PROJECTION “PIUME”

CLOSING

Rare diseas day

#rarediseasday

The XII Rare Disease Day has a broader perspective this year:
The key theme is Equality, meant as access to equal opportunities aimed at enhancing the potential of people affected by a rare disease. The first Rare Disease Day was celebrated in 2008 and 29 February was picked as “rare day for rare patients”. This year, after 13 years, we are going to celebrate again on the rarest day of the year.
People affected by a rare disease, who are a few if divided per pathology, amount to more than 300 million in the world and make up the third largest nation.
According to the Regional Registry and the 2019 MonitoRare Report, people affected by rare diseases in Italy are more than 780,000 but it’s estimated that they could arrive to be more than 1,200,000.

I AM NOT ALONE.

It’s always true, even more in this situation.
We remind you that our Social Reception and Counselling Service, thanks to which you can find counselling and support on anything concerning Poland Syndrome, is always operational.
You can visit:
SACS (Social Reception and Counselling Service)
Contact us

I’m 35 years old. I am a Poland Syndrome carrier and a founding member of Aisp.
At the end of 2002 I was still living in Brazil and I used to go on the Internet to search for scientific publications and/or someone who could help me to better understand the Syndrome.
Unfortunately, searches came to nothing and I always ended up on an extremely technical American Poland Syndrome website.
That was a tough time. I felt alone, different in everyday life.
However, one day fate surprised me.
After searching “Poland” on the Internet, a different result from the usual ones appeared and I immediately opened it.
So I had the great luck and happiness to meet Eva Pesaro, Massimo Masi and many others thanks to an online hotmail group called Poland Syndrome, created by Eva.
It was one of the best days of my life:
I was happy because I wasn’t alone anymore and because I finally found other people who were living the same experience as me.
I had found them, but they were so far away, on the other side of the world, in Italy.
What could I do?
It’s been a long time since I wanted to live an experience abroad, but I was uncertain about the destination to choose.
Well, Poland helped me choose a country, change continent and learn a new language and culture.
So, I decided to move to Italy to meet the people suffering from Poland like me.
Meanwhile, the hotmail group was growing so much that at some point we realized that maybe we were not so few, alone and rare as we were thinking.
Then, Eva suggested meeting in Genoa to get to know each other.
That was a wonderful experience for me. I was very nervous and the night before the meeting I could not sleep well.
I remember it was really exciting. My heart was beating fast all day.
I will never forget the moment when Francesca came to me smiling and said:
“Hello! I am Francesca Barzasi and I have Poland Syndrome like you”.
She was the first person with Poland I met.
Finally, my wish to meet another carrier came true.
Today, thanks to Aisp we can say we are no longer alone. Please, support Aisp because without this association we are just carriers of a rare disease with a strange name.

our experience began when our second child, Andrea, was born.
Our shock was great since during the pregnancy none had told us the fingers of his right hand were missing.
Maybe during the morphological ultrasound the left hand had been displayed twice, or perhaps the right hand had been considered normal and closed in a fist.
The days following the childbirth were terrible. We were among cheerful parents and could not feel the same.
I tried to cover the child’s hand with the romper suit sleeve; I was prey to a feeling of guilt I could not rationally explain.
The hospital gave us no clarification; they told me that maybe I had taken some drugs during the pregnancy, perhaps before knowing I was expecting a baby, but I was sure I hadn’t. I had even asked my physician before taking wheat germ!
In those days I cried so much and even in the following days I could not stop crying.
I just stopped when I tried to think about something else or to hide from my other child but as soon as I found myself alone thinking, I could see nothing but the problems we were going to face.
My father had the worst reaction: he could not even hold the child in his arms.
My husband never cried, and when I told him that it would do him good to let off steam, he told me that he didn’t understand why he had to cry and let himself go, even though he was devastated too. He kept telling me that we had to be strong, especially for the little one, and that his serenity would depend on us.
In the meantime, we underwent some medical examinations (x-rays and ultrasounds) to ascertain the absence of other related disorders and we went to meet the first specialist we had been directed to, an orthopaedist at the local hospital.
The meeting was awful; he told us that, according to his experience, such cases were related to mothers who had undergone amniocentesis. Thus, my guilt became a huge weight.
Anyway, we were directed to another Hospital, the Hand Surgical Centre, where to our amazement, the doctor asked us to undress Andrea to visit him. I was about to tell him that it was not necessary, since the hand could be seen very well anyway, but he started to examine the chest and made the diagnosis, explaining that the right major pectoral muscle was also underdeveloped. It was only an aesthetics matter, but it would become more and more visible with the passing of time (Andrea was 10 days old).
We agreed to see each other again a year later (in a little more than a month now), to check the x-rays and ultrasounds that we will do again for control and to talk about possible solutions (almost certainly prosthesis to be put in a few years).
The meeting with this doctor was very positive for me, first of all because he relieved me of the guilt linked to the fear of having done something, even if in good faith, that could have caused or facilitated the problem to arise; secondly because he gave us a clear picture of the situation. He strongly focused on the fact that other patients in these conditions live normal lives and that in most cases they do not even want to wear prostheses, since they get used to the limb as it is and live peacefully.

Anyway, we didn’t stop and we went to a hospital in northern Italy:
We were told again that it was too early to decide what to do (Andrea was 35 days old) and that we should talk about it again as he would turn one year old.
Also this doctor was very compassionate, he handled the situation from a psychological point of view, starting by saying:
“Let’s set things straight:
We don’t need surgery to save his life.
Andrea is fine and healthy as he is.
Now I know that the doctors were right about living a completely normal life, because I have personally experienced it in almost a year:

Andrea doesn’t look for help for the things he can’t do with his right hand, he rather finds his way with his left hand and doesn’t want to be helped; after all, it’s normal for him, he was born like this and he learns to do everything in this way.
Moreover, seeing his daily improvements, not only from a motoric point of view, his serenity and the joy he transmits, is the greatest injection of optimism we could receive.
We thought he would have some problems crawling and walking around holding on to furniture or grabbing and using certain toys, but we are always amazed at how he does it naturally.
This strengthens our belief that unless we create useless worries to him, he will be able to live peacefully a life. It will reserve him some complications, above all psychological, in his relationship with others anyway.
I now realize I am the one putting people in a difficult position when they dare ask what happened to him, and I reply with a plain “Why?”
“Where?”, as I don’t realize they are talking about the hand and everything is in its place to me.
There is one thing I won’t give up on:
that we had to wait 10 days (terrible days and we were even lucky) and a hospital visit before getting to know the pathology name, when it would have been possible to know it during the prenatal ultrasound.
I surely would not have interrupted the pregnancy for a hand issue (and it would not have even been possible by law) but every mother has the right to know the results of an exam she undergoes.
This is the reason why I consider the role of Aisp as essential, a reference point for all the people suddenly hitting the wall of a rare disease, barely known and on which everything can be found on the internet.
After getting the diagnosis in Modena, we immediately threw ourselves into the web and, beside Aisp website, we found other sites providing medical information, concerning possible solutions as well.
An American website explained that rarely leukaemia and non-Hodgkin lymphoma were found along with Poland.
We got extremely worried and we immediately wrote to Eva and called the doctor to get clarifications and reassurance. We luckily got both from them.
General and real time information, as well as the free day hospital with a specialized team, are really fundamental for people like us, facing such new experiences none is ever ready for.
Ten months have gone by, the baby is as beautiful as ever, and the problems that seemed so huge beforehand, have become situations to be managed with serenity and in the best way, with the awareness that he will have a normal and happy life like all the other children.
I wish all the families in the same situation to stay united as we did and to stay strong, above all for the children.

this is my tiny story.
27 May 1969: it’s my birthday.
I was born suffering from Poland Syndrome, but at the time nobody knew about it.
22 February 2012: it’s the date of my rebirth. Everything in the middle is irrelevant now.
What’s past is past.
The moment in which I found out the name of my disease, whether by chance or otherwise, is imprinted on my mind.
Poland Syndrome.
I remember it very well, and I want to shortly tell you about it.
As I was looking for some information about a muscular pain to my left shoulder that had been lasting for some time, I chanced upon the picture of a kid with a raised arm.
Among the many pictures on that page, my attention was immediately attracted, as if by a powerful magnet, by that very picture.
Only by that one.
That picture, where the face was not visible, looked familiar to me right away.
It reminded me of someone…myself!
Before I could even think about it, my finger had already clicked on the link.
I remember the feeling of surprise and wonder.
I remember the emotion…as if it were happening now…
It was quite direct and violent.
I started reading.
After a few moments, I already had some answers to a lifetime questions.
Unbelievable…I was not alone, and I was not the only one!
The burden I had been carrying for the last 42 years had a name: Poland Syndrome.
The website, full of detailed and precious information, went under the name of Associazione Italiana Sindrome di Poland.
I recall spending the following two days looking for information after information…I only had one concern…eagerly learning as much as possible.
That’s why I looked up many websites of different nationalities.
After having partially satisfied my curiosity…I came back to the start.
The website of Aisp: Associazione Italiana Sindrome di Poland.
The following step was signing up on the website and, at the same time, submitting my first request for help through the “Mi presento” in the Forum …
The wait didn’t last long.
A volunteer, in charge with new arrival reception, replied almost immediately and helped me through the first steps of my route.
Her name is Monica Vigo.
Hi Monica!
you are a wonderful woman…Thank you!
She was the very first contact I had with the Poland tribe and I immediately felt a spontaneous connection with her.
I want to say it…because I feel it as deeply true!
Through some phone calls and emails, the association scheduled in a very short time the specialist medical examinations needed to ascertain if I had been suffering from Poland Syndrome.
I had no doubt, but I am not a physician.
I only asked to have the examinations made in Genoa, a city I didn’t know if it weren’t for the lyrics of my beloved musical poet and a city I would fall in love with immediately.
The association, made up of volunteers – I want to underline this point – organized all the medical examinations, grouping them in 2 days: 18 and 19 April 2012.
By the way, I had never experienced a medical environment nor a hospital, above all.
So, I had never set foot in a hospital for health reasons before, it was my first time ever.
The very first contact with healthcare I had was at San Martino Hospital (such a small city, I’d say!), where I met Prof. Carlo Martinoli for a chest ultrasound.

He first diagnosed that I was really affected by Poland.
Well, I was right!
Thanks to Aisp I was on the right track and in the right place…and above all, I was helped by the appropriate healthcare professionals!
The next examination was scheduled at IST (National Institute for Cancer Research), inside San Martino Hospital, with Dr. Maria Victoria Romanini.
She diagnosed Poland as well, and explained to me in a clear, precise and extremely professional way, the different options I had to improve my situation.
She suggested without pushing me and she helped me to make the choice most suitable to me.
She gave me all the information I needed and left the decision to me.
As it has to be.
Thank you Dr. Romanini, I am grateful to you!
The day after, 19 April, I had an appointment for the genetic examination at Gaslini Paediatric Hospital.
I had heard about the Gaslini Hospital, a well-known paediatric hospital.
The geneticist took some blood samples and detailed the possible causes for Poland.
She asked me some information about my family and asked if I could have been interested in taking part in the study on Poland.
For sure!
It was the least I could do.
Afterwards, she addressed me to the next office, where I could get my certificate of rare disease. I had to bring it to my Local Health Authority (Asl) office in order to start my healthcare journey.
It was the rare disease office (Sportello Malattie Rare) of the Liguria Region.
There I met other doctors and nurses.
I want to mention their names because each and every one of them is endowed with deep and natural Humanity and Splendid Professionalism.
I would like to address a warm greeting to The Boss, Dr. Bazzari, office manager, who easily handled a small information issue with my Asl office with a phone call, and to Dr. Tramaglino, social worker, capable of solving problems with determination and decision; and to nurse Angela Andrei … a big kiss, for having explained in detail but simply, the steps I had to take, to untangle the various offices … and for her natural Sympathy!
As I waited for my turn in different Gaslini Hospital waiting rooms, I could not stop looking around me and I saw people, families, children, patients, healthcare workers…all different, yet all the same…with the only aim to help and also to get help and counselling.
That day spent at Gaslini Hospital will always remain in my heart.
I will never forget you!
You offer smiles, hopes and solutions.
Thank you for everything you do!
All these positive emotions could not have been possible without the commitment of Aisp volunteers. This constant, sincere and generous commitment allowed me to define my journey in such a short time, and with highly-qualified health professionals.
Aisp was born in 2013 from the intelligence, commitment and suffering of a woman, a mother, Eva Pesaro.
Thanks to her, the Associazione Italiana Sindrome di Poland directs, counsels and solves problems related to Poland Syndrome.
I came back home with a date for surgery, which I decided to undergo.
September 2012, then postponed to 15 October.

when I was 9 years old I used to sing in the church choir and I would see two girls playing the guitar.
I was fascinated.
I asked my parents to allow me to join guitar lessons and that’s how I learnt to play.
Today, photography is my greatest passion: in the viewfinder I discover myself, the world, others.
I was diagnosed with Poland Syndrome at the age of 36.
Giving a name to what had happened to me was a relief.
In my life, I have never asked why I was born this way.
I have stopped feeling ashamed, somehow wrong and different.
I have stopped feeling afraid of being observed because I have four fingers.
The truth is that I really have nothing to hide

I am 11 years old and I am a Poland Syndrome carrier. It affected the left side of my body.
I am missing my left pectoral muscle and I have a smaller hand.
I have experienced difficulties building relationships with my peers. They gave me a nickname due to my hand defect.
I have never had problems living with my hand defect.
I live in the north of Italy and when I was 6 years old I started having a passion, dancing.
I have pursued and I am still pursuing this passion.
I like dancing because it is a way to express who I am and what I feel.
I have always been aware of having Poland Syndrome, but this did not stop me from moving forward without any difficulty.
As the years passed, my self-confidence grew, despite the awareness that some hip-hop and break dance moves are not suitable for my health.
I kept dancing and I won several regional competitions. A few times ago I took part in an Italian competition in Rimini and I won the first prize in C category!!
It was a very important victory for me.
From that moment, I understood that a physical problem can’t stop you from a dream…
A DREAM CAN COME TRUE!!
I want to encourage you to have the strength and the self-esteem to move forward even in case of problems, because life does not stop for problems, life is a dream that goes on.
My name is Igor,
when I was a kid I used to watch all Bruce Lee’s movies and his Kung Fu…I would see that tiny man doing astonishing things.
JUMPS, PIROUETTES…
TWIRLS…
FLYING KICKS.
I wanted to become like him, I wanted to do what he did…I wanted to be like that tiny man who made a lot of young people in the ‘80s crazy with his screams and his moves.
After months of begging, crying and promises, I convinced my mother to call the only Kung fu gym in Genoa.
One afternoon she sat on the bed and called a master.
I was in the other room and I could not listen, but I could see her expression reflecting in the mirror…
I could not wait, I was so excited…finally my dream would come true…my heart was beating wildly, my eyes were shining with happiness.
I was waiting anxiously. Time was not passing. A few minutes phone call seemed endless…
There…finally the phone call ended. She sat for a few seconds – no winces nor changes of expression in the face – with her head bent.
She sighed heavily and she slowly stood up, with no expression on her face, looking downward. At that point, that happiness and excitement that had come over me during the whole phone call slowly faded away. She approached me, looked up at me and, with a sad voice, said: “YOU CAN’T DO IT”.
My God…I felt like I was dying inside.
“…WHY?”
I asked her, and her answer was as exhaustive as destructive for a 9-year-old kid.
“BECAUSE IT IS VERY HARD AND YOU NEED TO HAVE A PERFECT BODY.
AND YOU…
YOU, HONEY, YOU DON’T HAVE IT. YOU KNOW IT..”.
In that moment I felt like I have never felt before…FLAWED.
That flaw which is not just in your body, but also in your mind. It gets inside and consumes you every day…as long as you live.
After many years and different sports I realized that I could do a lot of things.
And since…
I AM NOT SOMEONE WHO GIVES UP EASILY, I did what I wanted. I joined a martial arts school, without much approval.
But in the end, after years and years of hard work…I became a Taekwondo Master with more than 80 students.
I won 3 International Championships.
I came in third place twice in the Italian Championship.
And in 2013 I came in fourth place in the World Masters Championship.
I HAVE GOT THIS FAR BECAUSE NO ONE CAN SAY I AM FLAWED. NO ONE CAN SAY WE CAN’T DO IT. WE CAN DO ANYTHING, BECAUSE EACH ONE OF US IS SPECIAL, BECAUSE EACH ONE OF US CAN DO WHATEVER…
HE WANTS.

I am a 24-year-old guy from Rome and shortly after my birth I was diagnosed with a rare disease, Poland Syndrome: absence of the right pectoral muscle and right hand malformation.
After my life experiences I can now say that I live my diversity confident and aware that if we are judged it has nothing to do with us, but with those judging us.
This was made possible thanks to all the people who have been standing by me: my family, my friends and the Italian Association of Poland Syndrome, a point of reference especially during the most challenging age, adolescence.

Anyway, only those who face the same daily issues as you can understand you in the best way.