PVery frequent if taken individually (and for this reason defined as “rare”), however, paradoxically, they concern very many people: almost 2 million in Italy, 30 million in Europe. And they too, rare diseasesthey are a lot: over 6,000, and a recent analysis estimates that they are growing exponentially (about 200 new genetic pathologies are described each year). Most of these conditions have an onset in the pediatric age: to immediately limit the life of the child who suffers from it but also to block the aspirations and condition the daily life of his family. And yet, stories about rare disease patients aren’t all about pain and fatigue.
Rare diseases, 20 testimonials in the book The Robin’s Nest
He proves it, isolating 20 special stories, The Robin’s Nest Testimonies from the world of rare pediatric genetic diseases (Lyasis editions). Just as the robin, small and seemingly helpless, resists even the harshest winters, so the families of the most fragile children know how to fight, day after day. By bringing into play all the resources, economic, social, psycho-emotional, to find a difficult, often precarious, balance.
Leitmotif of the story, woven by the authors Francesca Indrcolo and Francesca Guido, the clinical experience, in thirty years of career, of Angelo Selicornidirector of the Pediatric Unit of the Sant’Anna hospital in San Fermo della Battaglia (CO) Mariani foundation center for fragile children.
A book for “rare” families but also for “common” parents
As Selicorni explains in the preface, the book is aimed at families who face rare diseases on a daily basis as a “recognition in the hardships, difficulties, efforts and emotions experienced in solitude and perhaps never communicated”. To the health workers, committed to accompanying the patients. But also to all the others: ordinary citizens, “ordinary” parents, teachers, educators. To bring them closer to the complexity of the battles of a few (but not so few). For “make everyone understand that each of us, in his own small way, can be a generator of hope, an actor of inclusionprotagonist of positive support even with small gestures ».
Prenatal diagnosis and “mourning an idea”
The stories included in the book give a good idea of what a rare disease is. From the first suspicion, when the baby is still in the mother’s womb.
Inside “the mourning of an idea” caused by a prenatal diagnosis of rare disease the story guides us Simon. That he was supposed to be called Achilles but then when it turned out that he would be suffering from achondroplasia, changed his name: to say the need for a change of pace, for his parents. The unforeseen and unpredictable situation had to be dealt with as such.
Achondroplasia, bodywork defect
A bodywork defect. this is theachondroplasia according to the definition of Donatella Sessafounder of Aisac, Association for the Information and Study of Achondroplasiaand mother of the current president of the association, Marco. So no intellectual disability but short stature with limb/trunk disproportion and macrocephaly. In vulgar terms, dwarfism.
The same rare disease is embodied in the book by another child, Dodowhich in addition to being achondroplastic is albino. Another rare disease, thealbinism, characterized by very light eyes, complexion and skin, with photosensitivity problems, and low vision. And it is “the biggest limit for Dodo to see little”, as her mother tells us. But «thanks to technology he manages to enlarge texts and images to be able to carry out his daily activities and study».
Trisomy 18 and the importance of the right support
In short, the limit is, within limits, circumvented. Not passed. From teamwork, from the right aids, from the support of the most sensitive, as well as competent, professionals. This is the road children with rare diseases and their families walk down. But these supports are not always there.
Among the stories collected there is also that of Heavenlychild affected by trisomy 18 (Edwards syndrome), a condition characterized by a very high mortality in the first year. Her mother had been advised, tactlessly, to go to Switzerland for an abortion (she had passed the term for the termination of pregnancy set in Italy). The advice was not followed and the little girl, through a thousand efforts, survives.
And he even goes on vacation, sometimes favoring departure for health checks. And that’s okay, assures Selicorni, who is taking care of Celeste. Medicine must be able to accept its prognostic limits e allow each «family to find its own way in the context of an unexpected and emotionally devastating condition such as the one in which she found herself».
«The Russian roulette of controls» periodicals
Among the diseases on which The robin’s nest offers a glimpse there is the Beckwith Wiedemann Syndrome (BWS)which predisposes to cancer. “embodies” it Achilles which every three months is exposed to the «Russian Roulette of Controls». “Every three months mom and dad go into an ultrasound clinic with a child who seems to ooze health from every pore and could come out with the strong suspicion that a malignant tumor is developing in one of his organs”.
Then there is the syndrome Cardio-facio-cutaneous explained through the history of David who can’t speak, but knows how to make himself understood.
The “sustainability” of rare diseases for families
It seems impossible to sustain in our eyes the everyday life that the family of Martinwhich has no autonomy, because it is affected by a syndromic condition deriving from one mutation of the Syngap1 gene.
And it was no longer sustainable to support Lorenzo’s daily life for his family, suffering from the syndrome Cornelia de Lange: too many violent and self-harming crises. Today, who is 18 years old, Lorenzo he lives in an assisted living facility and this, as well as a relief for his parents, was an opportunity for him to gain greater autonomy.
DiGeorge, Mowat Wilson, Charge, Kabuki, Noonan: the endless list of syndromes
DiGeorge, Mowat Wilson, Charge, KabukiNoonan: they are the names, strange for those who don’t know what they report, of other (some other) syndromes, or genetic diseases.
Names that, for those who know how to read them, can mean peculiar physiognomies, heart disease, malformations, structural and functional problems, renal or neurological complications, recurring infections, high infant mortality, disability. They mean periodic “Russian roulette” visits, and a normality that, when touched, is a conquest.
As in the story of BrunoMilanese, 28 years old, affected by Noonan syndrome (congenital heart disease, statural growth retardation, learning difficulties and comorbidities affecting other systems and apparatuses). For him Noonan was “one step ahead”: his greatest achievement, the foundation of theNational Association of Noonan Syndrome and RASopathies ODV.
Associationism in rare diseases: the value of “peer” comparison
Patient family associations are among the most important resources in the aftermath of a rare disease diagnosis. The confrontation with those who face the same fate is “a priceless and decisive breath of fresh air”, to use Selicorni’s words.
As Bruno himself said well, doctors can tell you anything, but their contribution in terms of generators of hope it is often partial. The experience of other parents and other people with the same condition can instead represent a concrete lifeline to hook up to, a credible testimony of the possibility of a serene future.
The possibility of meeting, discussion and support “between equals” is therefore one of the great values of associations in rare diseases.
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