Luciano From California
Luciano Ciro, came to this world on the morning of October 24th, 2009. I had a normal delivery, with no complications. The first four weeks, as I was trying to heal from the birth and bond with him, including breast feeding, his first seizure struck. At the time I didn’t know how someone looked while having a seizure, let alone a newborn. I thought he was choking with the milk while breastfeeding, and was trying to gasp for air. The next day as we were visiting my brother and his wife, he had another. Thinking it was unusual and serious, my sister-in-law advised taking him to the ER. As soon as we arrived and tried to check him in, the seizures became more frequent. That prompted the nurse to take him in quickly so the doctor could intervene. This is the moment that the ER doctor explained that what he was having were seizures, and told us that he was going to be transferred to the Children’s Hospital. As all mothers know, I felt as if the rug that I was standing on was removed abruptly. He was admitted and for the first few weeks many tests were done. It was painful, not being able to continue feeding or even hold him because his condition was getting worse;
failing to thrive, unable to keep body temperature stable. At that point, I was fearing the worst because the doctors couldn’t figure out what was wrong with him.
Many tests were performed, including MRI scans and EEGs, to see how his brain was functioning. The neurologist found out that he had brain atrophy. At that point we had a meeting with the specialist and hospital doctors so they could explain what they had found out. After 33 days in hospital, the genetic specialist had concluded after tests that what he had was Homocystinuria. The neurologist then went on to explain that due to the amount of seizures he had, his brain had suffered greatly and that Luciano would suffer from mental retardation.
That was the only thing that stuck in our heads; everything that was said before and after was a blur. I felt as if I had lost my baby and was mourning what I thought he would be like before his diagnosis. Doctors went on to say that he wanted more genetic testing to see what kind of Homocystinuria he had. We wouldn’t know the results until months after Luciano had been discharged from the hospital. We spent Thanksgiving in the hospital and on Christmas Eve we were able to go home. My life had changed. I had a newborn that would have many challenges, specifically intellectual ones. I was devastated! I was a new mother and felt isolated. I was told that very few people in the world had Luciano’s condition. I tried searching the internet for anyone that was going through the same thing, but I couldn’t find anything. Between therapies, doctor’s appointments, and early intervention, I fell into a depression that lasted until I realized that I needed to embrace and accept my child. Throughout Luciano’s first two and a half years he made progress. He started crawling at 12 months and almost 3 when he started walking with support; thanks to his physical therapist that he still sees. Luciano has beat all odds against him. He’s resilient. He’s a happy young man. Although he doesn’t speak, he is very vocal and makes sure he gets his needs noticed.
Luciano suffers from all the symptoms that CblG people suffer from, including macular degeneration. Specialists have no solution than to monitor every 6-12 months. Luciano did develop serious skeletal issues, scoliosis and feet problems. Surgery was the only option to help him with that. Between his first month of life and up until now, he’s been in the ICU and had ER visits due to relapse from seizures. It’s been hard, always fearing when or what could cause another relapse, but Luciano is a fighter and keeps on fighting, teaching us patience, strength and resilience.
I’ve learned to let go of what I cannot control and enjoy the little achievements that he reaches; slowly but surely. It hasn’t been easy these past 16 years. His dad and I could not keep being together, and Luciano stopped having a connection with him as well. We were fortunate enough to have met my now husband, who has stepped up to the plate and become Luciano’s dad. We work together and help Luciano; from changing diapers, bathing him, giving him bike rides, administering his injections and giving him his meds.
We don’t know what the future holds for Luciano, who is true to the meaning of his name…light. I am sure that whatever comes, we will be there to give him all our unconditional love and care.
