CERNAIS starts a collaboration with Uncommon Therapeutics for the development of a new combo treatment for Rett syndrome 

It’s a Saturday morning. I wake up, open the hotel blinds, and am greeted by a gorgeous sea
view in Viareggio, a beautiful seaside city in Tuscany. My wife and I, still drowsy, take a
shower and get ready for breakfast. It is June, but the mornings are still cool. A warm
cornetto, a slice of crostata, and a hot cappuccino, and we are ready to go. Viareggio’s
seafront is simply too inviting to stay in the hotel. I arrange for my shirt to be ironed and off
we go. Following the walking path, we reach 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. Many tender memories flood my mind, and the place suddenly
feels familiar. That morning, we must have walked at least 10 km along the seafront
promenade that stretches for hundreds of kilometers along the Tuscan coastline. While
wholeheartedly enjoying the walk, I tried not to get too tired, as I had a meeting and a talk to
give in the afternoon. With that in mind, we stopped for a delicious lunch by the sea and then
returned to the hotel to get ready.

The sun is so strong that it hurts your eyes, so I make sure my sunglasses are in my bag. At 2 pm, a car comes to pick me up, destination Fondazione T.i.A.m.o. (I love you in English), a non-profit NGO caring for kids affected by rare diseases such as Rett and CDKL5 syndromes, two rare genetic diseases. The foundation is in the countryside. 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 the sea in Viareggio. In seconds, a big smile appears on his face. He is a sunny person. He tells me more about the foundation, the projects they are currently running, and their future plans. They are launching garden activities and pet therapy projects for affected children, with dogs and even donkeys! I thought this was a great idea and suggested raising funds to build a pool. Giorgio mentioned that the kids already do hydrotherapy in private facilities, but they were also considering building their own pool at the Fondazione.

Giorgio then introduces me to Dr. Pini, another hero of the Fondazione. Dr. Pini is a neuropsychiatrist who 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 goes very well. We have several speakers, including parents and representatives from national orphan disorder foundations such as ProRett and Airett. We also hear a presentation from Monica Coenraads, the director of the Rett Syndrome Research Trust (RSRT), who informs us about their work, particularly focusing 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 was fortunate to talk to most of them, including Silvana Paolini, who promoted this meeting and with whom I had been in touch before. All the families had different but similar stories, united by the unconditional love for their kids and the challenges of life. Giorgio then introduces me to his son and to Carolina, a beautiful 21- year-old girl. Carolina suffers from Rett syndrome, a rare neurological and devastating genetic disorder that deprives young girls of living a normal life. Rett syndrome patients cannot speak, have breathing issues, display autistic behavior, 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?” I add, “Carolina understands everything!” and a huge, contagious smile appears on Carolina’s face. Carolina does understand everything. Carolina’s (and her parents') tragedy is that this severe neurological disorder does not allow her to express herself. She is trapped in the darkness. It is scary, frustrating, and upsetting.

By observing Carolina, I realized that she and other kids at the Fondazione could greatly benefit from new-technology assistive devices to help them communicate. Some of these instruments rely on sophisticated eye-tracking technology, presenting basic questions and statements to help these young patients express themselves. I saw a few of these devices at a recent conference organized by the RSRT in Boston and was impressed. Some girls managed to put together complex sentences, such as wishing their parents a happy birthday. 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 further, and she mentioned that the Italian National Health System (Servizio Sanitario Nazionale, SSN) provides such assistive devices free of charge to patients when its benefit can be proven beyond any reasonable doubt. Unfortunately, the SSN process is long and complicated, partly because the devices can be very expensive.

On the train back to Rome, where my wife and I live, I thought again about Carolina and the conversation I had with Silvana. An idea came to my mind: buying an eye-tracking device for Fondazione TiAmo and testing it on girls affected by Rett and CDKL5 (another severe neurological disorder) to assess which patients would benefit most from it. Fondazione TiAmo would be the perfect place to test the effectiveness of the device and present the evidence to the SSN to support their purchase. This is not an easy task. To achieve this goal, we need to raise over 20,000 euros and require the help of Dr. Pini, other local neuropsychiatrists, and additional support from highly qualified personnel familiar with the latest generation of medical eye-trackers. The eye-tracker must be set up for each individual patient.

With this goal in mind, we decided to start a new blog and fundraising drive to help Fondazione TiAmo purchase a dedicated eye-tracker and provide user support.

With your help, we can make a big difference in the quality of life for these kids and their
families and contribute to improving future treatment and management of these diseases.

Together, we can. Ti Amo.

Andrea Cerase