XLPDR International Conference 2014 - Milan Good morning everyone, and welcome to the XLPDR home, our first conference. Some of you indeed crossed the world to reach us, and all of you accepted to spend your whole day to join us. How could I thank all of you? I'll start telling how everything started, with my words as a mother. Then I'll let speak other people that will describe in great detail this very rare disease. Let me tell you that we're speaking about such a rare disease that all over the world there are only nine cases that are well known and documented. My son, Alex, is the only one in Europe and in Italy. There are other affected people in Texas, Canada, Australia. There are rumours about someone in Israel, in Spain, maybe in China. The real problem with this disease is that almost no one knows it. And almost no one is able di diagnose it. I think that there are much more cases, but no one is able to diagnose them. When Alex was born I was worried because of his aspect. Thick hair, black and backwards, his dry skin and this to seem oldish. After a couple of weeks he started with vomit, strong belly pain and when he was just two months old, we took him first time to the ER, because of a bronchopneumonia. After this first event Alex never stopped with continuous respiratory problems, high temperature, and we had to start with frequent antibiotics therapy. I was always running from an ER to the other one, but therapy was always the same, same as answers. Or, should I say, “no answers”. They often told me: “Madame, you're tense, and your baby feels it and he somatizes your discomfort. When you'll be calm and quiet everything will be better”. Somehow they told me that it was my failure. The worse moment came when he was five months old. We had to run to the ER. Alex was impossible to console, his weight going down. There I met dr.Morandi, neonatologist. He understood at soon how dangerous was the situation. And he was able to listen to my words, without thinking that I was crazy or depressed. We took urgently Alex to the Buzzi Children Hospital, where he arrived with blood values that were incompatibles with life. They put him in ICU, with pipes everywhere. He was a little body with no hopes. But he decided to survive, with nails and teeth, and so he has always been, during so many hospital admissions. I lost the count of how many times we went to ER and hospital, how many wrong diagnosis. I don't want to blame anyone, this is not the purpose of this conference. But I have to say that without dr.Morandi, dr.Tadini and Burlo Hospital team my son would not be alive. When XLPDR exploded into my life I lost my stability, my reference points, my future. I felt lost, alone. Bad thought came into my mind during many months. Then, thanks to my XLPDR International Conference 2014 - Milan husband, my family and my friends help, I came into a sort of a rebirth. I turned my anger in some positive feeling. I started this long journey by creating the association. My purpose was to give a “Home” to the XLPDR. I started using internet, facebook, I found other families and there I found a new world. I swiched from “knowing nothing” to “knowing too much”. The rare, very rare disease is such a big problem, because no one knows it and no one cares about it. So happened to me, and the same happens to many other mothers that are fighting against rare diseases. Too many times someone told me “I'm so sorry, but I don't know how to handle your son's disease”. I've been visiting so many hospitals, but the answer was always the same, a negative one. Eventually I reached the Trieste Burlo Children Hospital. Maybe some of you don't know that Trieste is 400km far away. It means that three, four times a year I have to flip my family life upside down, starting a trip of four hours to reach the only one hospital that accepted to care about my son's health. And I have to thank dr.Bruno and the whole hospital team that welcomes and helps us. Many years are gone, many things happened. We had to deal with difficult situations, but everytime that we fell, we rose again. Until, one day, I decided that the moment was ready to give a face to XLPDR, with this first international conference. When I started with this adventure I didn't know how to do it. It was not easy to organise times, journeys, needs, using our poor resources. But I'm stubborn and, despite so many difficulties, here we are. We have two purposes: First, we want to make XLPDR known, spreading knowledge among doctors, increasing their knowledge about rare diseases. It's impossible to know them all, there is always something missing, or underestimated. And when this happens, the patient will pay the consequences, as Alex did. Our second aim is to give those boys the opportunity to know each other, filling this sense of loneliness that they felt in the past. Rare patients worse sensation is “not to know” what is going on and to feel alone, And that's much more true for very rare diseases. I think that in life we should be humble. And, overall, that a doctor should remember that he decided to be a doctor, while a patient doesn't have this possibility. On the screen you're watching some picture that shows what's XLPDR. I'm not referring to the medical aspects, dr.Zinn will speak about it. I'm just speaking about some aspects of the pathology. I'm sorry about the bad quality of some picture, we did our best. Thank you again for your presence.