The day Alessandro was born was the most beautiful day of my life. But I knew at once that something was wrong. I asked the midwife for answers. "Don't you see what a beautiful baby?" she said. To me, he looked like a dwarf. Not that there's anything wrong with dwarfs—I wish that's all it had been.
I put him to the breast. He sucked strongly but couldn't swallow. I realized this days later when I weighed him. That's when the hospital visits began. At the first hospital, we stayed for six months because of feeding problems. They fed him through a nasogastric tube, with my milk. In those days, only nursing mothers could stay in the hospital.
They ran test after test to understand the short stature, the slow growth, the apnea that kept him from sleeping, the enlarged tongue. Those months in the hospital held so many frightening stories. But the hospital was safe. Coming home meant worry and uncertainty.
I learned to feed him through the tube—back then you had to do it at every meal. This went on for eighteen months. Finally my husband and I decided to let him eat what he wanted. He would take only a little nutrition at night while he was half-asleep. When he was awake, he wouldn't eat.
We never stopped visiting research centers, the best ones at the time, but we never found answers.
Starting school was traumatic. In those days, disabled children went to special schools. But no one wanted Alessandro. He couldn't walk or feed himself. He could speak and understand, though. The special schools said he'd do better in mainstream schools. The mainstream schools wouldn't take him because he walked with a walker.
Those were the years—1970 to '76—when we were fighting to include disabled children in regular schools. He was one of the first, maybe the very first in Rome. He learned to walk and feed himself fairly quickly. He fell behind in academics, but he won people over with his wit and his small frame.
In the meantime, he had several surgeries on his feet. His hips were subluxed, but we managed to correct them with a Putty spreader. He was diagnosed with mild cardiomyopathy.
Elementary school and middle school passed without much academic progress, though he became good at socializing with older children and kids his own age.
After finishing mandatory education, we sent him to a physical therapy center. It lasted only two years. The institute received a large inheritance and decided to turn itself into a computer center for teenagers. Since Alessandro couldn't use a computer, they threw him out.
By then he was nineteen. We had no choice but to call around to various day centers for disabled people, run by public and private agencies. Both my husband and I worked, and at least in the mornings Alessandro needed to be with people who could help him spend his time. My mother had died. My father had suffered a stroke and come to live with us. With great regret, the only place we found was Don Guanella, where everyone else had severe disabilities. Even though it was just a few hours in the morning, Sandrino grew more irritable. When we picked him up around 2:30 p.m., he was always standing, ready to leave.
That summer he went to the beach at a recreational center with many other young people. He was thrilled to be with his friends. One evening after dinner, he was taken to the emergency room in Civitavecchia. When they called us, we rushed to the hospital. We found him in a coma. Both my husband and I understood the situation was grave. He'd had a collapse.
They wanted to do a brain scan, but this emergency room didn't have the equipment. We decided immediately to take him to Gemelli Hospital in Rome, even though the doctor told us: "Let him sleep now." We found a private ambulance and drove.
At Gemelli, the scan showed that Alessandro had fluid on the brain—syringomyelia. Although he was in a coma, they operated.
They inserted a shunt and performed a tracheotomy because of his breathing problems. We spent five long months in the hospital. He had such a will to live despite everything: he was suspected of having AIDS but it was vasodilatory septicemia; he had hypertrophic cardiomyopathy, broken ribs from repeated manual resuscitations. And through it all, no one could tell us what syndrome he had, despite all the medical consultations.
Finally the day came to go home. We were exhausted from watching, caring, and working all at once.
We tried to place Alessandro back at Don Guanella, but it didn't work. With the tracheotomy, they wouldn't accept him. We went around to other facilities for severely disabled people. Nothing worked. Sandro stayed home with his elderly grandfather, who also had disabilities, and a rotating group of young people doing military service. It was a disaster. Alessandro was used to socializing with many people. We kept asking ourselves: what was the point of teaching him to be so social if we had to keep him alone at home with a disabled grandfather?
In the evenings, whenever we could, we'd take him with us—to sing in a polyphonic choir, to go shopping, to dinner with friends. As soon as he saw me arrive, he'd say: "Let's go." He didn't even care where. The important thing was to go.
After two years of pressing the doctors at Gemelli with data, photos, test results, they showed me a picture of a little girl described by Professor Costello. We saw she looked like Sandrino. An article was published. Soon we began hearing from families around the world with similar children. This is how Costello Syndrome was discovered. There was so much hope, but it came to nothing. He had many biopsies—skin, bone, bone marrow. His heart began to fail. He stopped walking and used a wheelchair. He used a walker around the house, just like his grandfather. After several bouts of pneumonia from a serious infection, he died. He was thirty-three. It was 2001.
If his birth day was the most beautiful, even with a tightness in my chest, his death day was strangely not sad. Alessandro was no longer suffering. He didn't need suctioning anymore. He didn't have to endure the pity and disgust people showed because of his tracheotomy. From the day he was born, one feeling never left me: anger. In 2005, we learned that this syndrome was caused by a de novo mutation in the HRAS gene, resulting from an accumulation of a protein called tyrosine.
Ten years have passed. In 2006, together with other mothers, I founded the Italian Association for Costello and CFC Syndromes, which includes mutations called RASopathies, from the RAS genetic cascade. I'm now the president. This allows me to help parents fighting the problems of this devastating syndrome. We work with researchers and hope we're getting close to a cure.
Maria Grazia, 2012