Noonan Syndrome Angels: An Italian patient organisation is fighting for themAugust 2009
LIVING WITH A RARE DISEASE
Six months after her birth in July 2005, Margherita was diagnosed with Noonan Syndrome, a genetic disorder that prevents normal development in various parts of the body. Even though her mother, Antonella Esposito, a psychotherapist, knew nothing about rare diseases, let alone Noonan syndrome, she knew something was wrong. “Maybe because of my job or because Margherita is my second child, I sensed that she was different. We visited many specialists who dealt with Margherita’s specific problems, but I was always focused on the general situation, so I asked quite early for a karyotype test. Her facial traits suggested something of a genetic relevance,” recalls Antonella. A child may be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical problems, and sometimes mental retardation; these symptoms also vary from patient to patient. Getting a correct diagnosis for Noonan Syndrome can sometimes take years!
Margherita had heart surgery when she 16 months old but still lives with some congenital heart defects. She had feeding difficulties as an infant. She has ocular abnormalities such as oblique eyelids rotated downwards and low set eyelids, low set and backwards rotated ears, unusual chest shape, and a broad neck. She is likely to have a short stature.
Life has changed a lot for Antonella and her partner. They spend time in and out of hospital and having a child living with a rare disease means that you never stop worrying. An ailment that can seem “normal” in any other child’s life – fever, flu or a cough – can mean something much more serious in this case. A rare disease patient at home also means that all the members of family have to bury their ideal image of what a son, a daughter, a brother, a sister is… Claudia is the eldest daughter of Antonella and, though she has a special bond with Margherita, she has had to deal with the fact that her sister is not like other sisters and to accept that her parents will dedicate a lot of time to her little sister. “She has many mixed emotions, it is not always easy, but the birth of our third daughter, Elisa, has brought a lot of harmony to our family. Now, Margherita plays the big sister!” says Antonella.
Aside from being a working mum to three kids, Antonella is the President of Angeli Noonan, the Italian association for Noonan Syndrome patients. The association was named “Angeli” because “these children are really ‘different’: sweet, altruistic, self-willed, intelligent and very tender. They seems to console and protect others with their own smile always available, like the Angels”, confides Antonella.
As President of Angeli Noonan, last August she travelled to San Francisco where a symposium on specific genetic syndromes was held. “It was really emotional. It was the first time we had been involved in such a wide meeting of families. We met Mrs. Jacqueline Noonan, after whom Noonan syndrome was baptised! We learnt a lot in many different areas: how to bring people together, how to involve researchers without “political compromise” and how to raise some money to survive!” says Antonella.
The whole family, who lives in Rome, is doing well these days and these days, for once, Antonella Esposito is having mundane parental problems. “Margherita likes to watch cartoon movies and she knows some of the dialogue by heart. I’m not sure whether it’s a good or bad thing. Maybe too much television?”
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This article was previously published in the December 2009 issue of our newsletter.
Author: Nathacha Appanah
Photo credits: © Angeli Noonan