Cambridge, Massachusetts
Here is Luca's story.
It took me several months to get pregnant, and when I finally did, I was beyond happy. My pregnancy went really well, and I loved every single moment of it. Luca (we already knew it was a boy) was born a couple of weeks before his due date, after an incredibly painful labor that lasted forty hours (no drugs, should I add). Anyway, there he was. The most perfect little angel on Earth. He was a HUGE baby (over nine pounds), and had strong lungs!
It took me several months to get pregnant, and when I finally did, I was beyond happy. My pregnancy went really well, and I loved every single moment of it. Luca (we already knew it was a boy) was born a couple of weeks before his due date, after an incredibly painful labor that lasted forty hours (no drugs, should I add). Anyway, there he was. The most perfect little angel on Earth. He was a HUGE baby (over nine pounds), and had strong lungs!
Breastfeeding was never a problem for him. He was (still is) our miracle. There was only one little thing: he would never looked directly at us. At around four months, we took him to the pediatrician. She was not there, but her nurse was, and she studied Luca for a long time. "This child has low tone. I think you should have him evaluated by the local EI". Low tone? EI? Was she talking a foreign language? Anyway, after a couple of days, there we were, in our living room, with a physical therapist and a social worker, all over Luca. The diagnosis was low tone, and they tried to explain that it is a neurological problem, but that it is not a "big deal". They thought that he was not looking at us because of his low tone (I don't remember how they convinced us of that, but they did). Luca was going to start meeting the physical therapist once a week. We were mildly disturbed at that point. After long research we felt that low tone was not a big deal, after all. At nine months, Luca was re-evaluated, and that day the world fell in front of our feet, and broke in many pieces. The result of that horrible evaluation was that Luca (who was not looking at us, was not crawling, sitting, moving, noticing people or objects) needed to be seen by a neurologist.
And so we went to the local Hospital for an EEG, that came back irregular. It showed that Luca had frequent seizure activity. Never a seizure, but maybe the not looking and the low tone were result of absance seizures. We put him on evil Phenobarbital for one year, and that caused his low tone to be even lower, and his low motivation to be interested in the world even lower. They were thinking of a brain tumor, of a malformation of the brain, of a metabolic disorder... We did more tests than anyone can imagine. And, among them (I did not even know), a chromosomal test.
It was a beautiful Friday afternoon, in colorful New England, when the phone rang. Luca was, by then, crawling and, with a lot of therapy, making slow but sure progress. I answered the phone. It was his pediatrician. "The result of the chromosomal test came back. Luca has "partial Down Syndrome". I don't really know what it means, but look it up on the net. Bye". I don't need to describe what that felt like. I'm sure you are all familiar with the sense of numbness and the total lack of words, thoughts, images. It was a moment that I'll never forget. I remember staring at Luca and thinking that I had, all of a sudden, a child with Down Syndrome. When I remembered to breathe, I called Dan at work and asked him to come home to hug me. Which he did. We were organizing the party for his first birthday.
The Net did NOT give us any answer, but we did a lot of research. Luca's form of Down Syndrome is very rare, it is called Mosaic Translocation 21Q21Q. Luca does not have any facial characteristics of Down Syndrome, which is good and bad at the same time (a lot of people ask a lot of stupid questions!), and has been diagnosed with a form of autism called PDD (although not all his doctors agree with the diagnosis). He has had two operations: one to close his PDA (heart-related stuff), and one to bring down his left testicle, that was stuck under a kidney.
He is and always will be the very joy of my heart. I thank God or whoever, that we were touched by such a miracle. Everyday is the hardest day in the world. Everyday I learn something more about altruism, acceptance, and love. Sheer, pure love.
And so we went to the local Hospital for an EEG, that came back irregular. It showed that Luca had frequent seizure activity. Never a seizure, but maybe the not looking and the low tone were result of absance seizures. We put him on evil Phenobarbital for one year, and that caused his low tone to be even lower, and his low motivation to be interested in the world even lower. They were thinking of a brain tumor, of a malformation of the brain, of a metabolic disorder... We did more tests than anyone can imagine. And, among them (I did not even know), a chromosomal test.
It was a beautiful Friday afternoon, in colorful New England, when the phone rang. Luca was, by then, crawling and, with a lot of therapy, making slow but sure progress. I answered the phone. It was his pediatrician. "The result of the chromosomal test came back. Luca has "partial Down Syndrome". I don't really know what it means, but look it up on the net. Bye". I don't need to describe what that felt like. I'm sure you are all familiar with the sense of numbness and the total lack of words, thoughts, images. It was a moment that I'll never forget. I remember staring at Luca and thinking that I had, all of a sudden, a child with Down Syndrome. When I remembered to breathe, I called Dan at work and asked him to come home to hug me. Which he did. We were organizing the party for his first birthday.
The Net did NOT give us any answer, but we did a lot of research. Luca's form of Down Syndrome is very rare, it is called Mosaic Translocation 21Q21Q. Luca does not have any facial characteristics of Down Syndrome, which is good and bad at the same time (a lot of people ask a lot of stupid questions!), and has been diagnosed with a form of autism called PDD (although not all his doctors agree with the diagnosis). He has had two operations: one to close his PDA (heart-related stuff), and one to bring down his left testicle, that was stuck under a kidney.
He is and always will be the very joy of my heart. I thank God or whoever, that we were touched by such a miracle. Everyday is the hardest day in the world. Everyday I learn something more about altruism, acceptance, and love. Sheer, pure love.
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