We welcomed Lorenzo into the world in May, 2009. He was a perfect addition to our American/Italian family. Shortly after his birth we realized that Lorenzo was not thriving as his big sister did, and so began our year long search to discover why Lorenzo was not growing, reaching milestones and often sick with respiratory and digestive issues.
After traveling to countless specialists, Lorenzo was finally diagnosed in June of 2010 at “La Nostra Famiglia” In Italy. His diagnosis was devastating; are rare genetic condition called Mecp2 Duplication Syndrome. The symptoms and prognosis of this syndrome are heartbreaking with a shortened life expectancy. We were crushed.
We were told that there was not much information about Mecp2 duplication syndrome. It was said that we should be prepared for the worst. Lorenzo would probably never walk or communicate and that he would be very ill.
With this in mind, we decided to pick up the pieces and give Lorenzo the opportunity to reach his potential, whatever that may be. With great support from his doctors and therapists, Lorenzo began intensive therapies. Lorenzo has beaten all odds against him in his progress. He began walking independently at the age of 5 years. He is non-verbal, but is very expressive. He looks at you with a sparkle in his eye, takes your hand and walks with you . He guides you to where he wants to go and will make you understand him, all without words. He is very smart and knows what he wants. Lorenzo loves music and he dances to it, he enjoys being with other children, he loves school, he likes to learn and to listen to stories, he is fascinated by technology, he cannot resist shoes but when he wears them he takes them off, he loves his sister but if she tries to hug him he pushes her away, he loves food and he would eat anything, he is always positive, he likes when people smile at him and he ignores people who ignore him. He brightens the darkest day with his smile and he is a star in his sister’s eyes. Lorenzo’s body betrays him, it does not allow him to communicate as he wishes, and it prevents him from running on the playground with his classmates. Doctors are convinced that Lorenzo understands and has the ability to learn, but he is trapped in his body.
The ability to help Lorenzo is within reach. The research done in Dr. Zogbi’s lab is very promising and will be able to prevent Lorenzo and children like him from the onset of devastating seizures, illness and premature death. The drug therapies being studied will restore Lorenzo’s brain function, possibly restore his speech and prevent dangerous respiratory infections. We are pleading for help to save our children. Only with funding can we find a cure. No amount is too small. Please make a donation to help give Lollo a healthier life.