for bringing us closer to such a rare syndrome, and for opening a dialogue and friendship with Ombre e Luci. We hope other parents will find the courage to tell us about new discoveries and initiatives concerning rare and little-known syndromes.
A Mother's Letter
Dearest Mariangela, I write to you only now, though I have known you for so long. The magazine Ombre e Luci came into my hands way back in 1988, given to me by Vittorina Gementi, precisely because at that moment I was with her making a decision—one that would prove to be a blessing—to enroll Emanuele, my second son, at Casa del Sole. Emanuele is seventeen now and has spent the last twelve years in "that corner of paradise," as Vittorina called it. He is a sweet and beautiful boy, and in him live the marks of "a trick of nature": a piece of the short arm of his fifth chromosome broke, for reasons we still do not understand. This is what caused his syndrome, a rather rare one called Cri du Chat. An association has now been founded—ABC (Association for Children with Cri du Chat)—which promotes scientific and genetic research, rehabilitative techniques, educational and behavioral methods, and fosters knowledge-sharing among parents.
I want the news of this association to reach, through Ombre e Luci, those parents who have a child like Emanuele and do not yet know of this precious resource.
That is the first thing I wanted to tell you. The second is my gratitude for having walked, though in shadow, all these years guided by a "light" that led me to meet Jean Vanier in person on March 25th in Bologna. It was an enormous joy, especially because I was able to introduce him to Emanuele, who still remembers Jean very well. From that meeting came the idea to participate, with a group of parents and educators from Casa del Sole, in the Faith and Light pilgrimage to Lourdes in 2001.
This letter, somewhat formal for all the information it contains, is for me really like a birth after a long journey of reflection, discovery, and growth alongside you and so many other parents I have come to know through Ombre e Luci. For all this, I express to you my deepest gratitude and affection, which mark the beginning of a dialogue and a friendship that is now, at last, openly declared.
- Anna Maria Cornai, 2001
Cri du Chat Syndrome
Chromosomal abnormalities strike sporadically at the genetic makeup of individuals, causing in the newborn multiple malformations of varying severity that may seem unconnected, yet are often recognizable by certain characteristic physical features.
Beyond the more familiar "trisomies" (Down syndrome and similar conditions), there exist other sporadic chromosomal alterations (and therefore non-hereditary ones) caused by an excess or deficiency of parts or entire arms of a chromosome. A partial deletion (loss) of the short arm of chromosome 5 produces Cri du Chat syndrome, occurring in approximately one in 50,000 live births.
Affected newborns show delayed fetal growth and therefore weigh less than normal at birth. Visible alterations present at birth—sometimes obvious, sometimes subtle—affect the head and include microcephaly (small head), a rounded facial shape, hypertelorism (abnormally wide-set eyes), epicanthus (a fold of skin at the inner corner of the eye), and ears set lower than normal. Changes also appear in the palm creases of the hands; in the musculoskeletal system with generalized low muscle tone; and in the heart, with possible heart defects. Characteristic is the weak cry resembling a kitten's mew, likely due to abnormal development of the larynx combined with low muscle tone.
The growth delay continues after birth, affecting both height and weight as well as intellectual development. The chromosomal alteration responsible for this syndrome causes a numerical decrease in cells in many organs, which therefore develop insufficiently.
Flavia Valletti - Neonatal Pediatrician
Valeria Levi Della Vida - Physician