A post about autism awareness #Rett Syndrome #love #family #community
It’s a Saturday morning, I wake up, open the hotel blinds and a gorgeous sea view welcomes us in Viareggio, a beautiful seaside city in Tuscany. Slowly and still drowsy my wife and I take a shower and get ready for breakfast. It is June but the mornings are still chill. A warm cornetto, a slice of crostata, a hot cappuccino and we are ready to go. Viareggio’s seafront is simply too inviting to stay in the hotel. I arrange with the hotel for my shirt to be ironed and off we go. Following the walking path, we reached Lido di Camaiore where we had spent a beautiful holiday a few years before and where – not too far from that beach – I had proposed to my beautiful wife, Joanna. Lots of tender memories washed over my mind and the place suddenly became familiar. That morning we must have walked at least 10km by the seafront promenade that literally stretches for hundreds of kilometres along the Tuscany coastline. While I was wholeheartedly enjoying my walk, I was trying not to get too tired. I had a meeting to attend and a talk to give in the afternoon. With that on mind, we stopped for a delicious lunch by the sea and got back to the hotel to get ready.
The sun is so strong that it hurts your eyes. I make sure my sunglasses are in my bag. At 2pm a car is coming to pick me up, destination Fondazione T.i.A.m.o. (I love you in English), a non-profit NGO taking care of kids affected by rare diseases such as Rett and CDKL5 syndromes, two rare genetic diseases. The foundation is in the country-side. Two old farmhouses have been refurbished and now look fantastic and very welcoming. Giorgio Fazzini, the president of the organization comes to welcome me. His eyes are blue. Light blue, like Viareggio’s sea. In seconds a big smile is on his face. He is a sunny person. He tells me more about the foundation, all the projects that they are currently running and the future projects. They are now launching garden activities and pet-therapy projects for affected children, with dogs and even donkeys! I immediately thought that this was a great idea and also suggested raising some money for building a pool. Giorgio told me that kids already do hydro-therapy in private structures, but they were also thinking to build their own pool at the Fondazione.
Giorgio then introduces me to Dr. Pini, another hero of the Fondazione. Dr. Pini is a neuropsychiatrist that takes care of the affected kids at the foundation absolutely free of charge and with immense passion. He has his office and practice there.
The meeting is very good. We have several speakers, including parents and associations representing Rett syndrome in Italy.
We also have a presentation by Monica Coenraads, the director of the Rett Syndrome Research Trust (RSRT), who tells us about what her trust is doing with a particular focus on gene-therapy. In brief, the gene-therapy consortium is investigating an approach to replace the “broken” gene with a healthy one using a modified virus to deliver the healthy gene to the brain.
After the meeting, I decided to stay with the parents a bit longer, knowing my wife would be happy with the extra shopping time. I had the luck to talk to most of all of them, including Silvana Paolini, who promoted this meeting and with whom I have been previously in touch. All the families had different but yet similar stories. Joined together by the unconditional love for their kids and the difficulties of life.
Giorgio then introduces me to his son Paolo and to Carolina, a beautiful 21 years old girl. Carolina suffers from Rett syndrome. A rare neurological and devastating genetic disorder that deprives these young girls of living a normal life. Rett syndrome patients cannot talk, have breathing issues, autistic behaviour and may have skeletal and seizure problems. Giorgio is Carolina’s nonno, her loving grandad. Giorgio then tells Carolina: “Carolina, this is Andrea, he does research to make you feel better, do you understand Carolina?”. Then I say: “Carolina understands everything!” and a huge, contagious smile appears on Carolina’s face. Carolina does understand everything. Carolina’s (and her parents) drama is that this severe neurological disorder does not allow her to express herself. She is trapped in the darkness. It is scary, it is frustrating and upsetting.
By observing Carolina, I understood that her, as well as other kids at the Fondazione, could hugely benefit from using new-technology assistive devices to help them communicate. Some such instruments rely on sophisticated eye-tracking that presents them some basic questions and statements helping these young patients to express themselves. I saw a few of these devices at a recent conference organized by the RSRT in Boston and I was impressed. Some girls managed to put together complex sentences such as wishing happy birthday to their parents. Talking to Silvana, I discovered that her daughter Irene, another gorgeous girl affected by Rett syndrome, has one. She showed me videos of her daughter using the eye-tracker and I had no doubt that she was effectively communicating with her parents through the device. We discussed this a bit further and she told me that the Italian National Health System (Servizio Sanitario Nazionale, SSN) provides such assistive devise freely to patients in cases where its benefit can been proven beyond any reasonable doubt. Unfortunately the SSN process is long and complicated, partly because the devices can be very expensive.
On the train, going back to Rome where my wife and I live, I thought again about Carolina and the conversation that I had with Silvana. An idea came to my mind: buying an eye-tracking device for Fondazione TiAmo and testing it on Rett and Cdkl5 (another severe neurological disorder) affected girls to assess which patients would benefit most from it. The Fondazione TiAmo would be the perfect place to test the effectiveness of the device and present the evidence to the SSN to support the purchase of them. This is not an easy task. To this goal we need to raise over 20,000 euros and we need the help of Dr. Pini, and other local neuropsychiatrists and the additional support of highly qualified personnel that are familiar with the latest generation medical eye-trackers. The eye-tracker has to be set up for each individual patient.