Silvia, 11 years old, has the CTNNB1 syndrome (from the name of the mutated gene), very rare disease and insidious from which they suffer 27 people (mostly children) in Italy and around 400 in the world. She was diagnosed just four years ago, after a long wanderings through hospitalsaway from home, to undergo continuous tests, visits, hospitalizations, in search of name of the disease, therefore of one possible cure.
«We already had the suspicion that Silvia had an illness at the age of eight months because the little girl she had no control of her trunk and could not sit up; from there it began Calvary – says the mother –. Despite an endless series of diagnostic tests, it was not possible to identify the disease. We live in Calabria and for eight years we have wandered around hospitals from all over Italy, incurring unimaginable, economic costs (travel, hotels, etc.) but above all human costs because, when you see your daughter feel bad without understanding the reasonsyou are one step away from psychological breakdown».
Genetic tests are fundamental for diagnosis
Silvia’s family decides to have the little girl examined by one of the most expert geneticists in the world, Bruno Dallapiccola.
«The professor prescribed theexome analysis, still not very widespread at the time, which was done as a trio to the little girl, to me and to my husband at the Bambino Gesù pediatric hospital in Rome, one of the few in Italy to carry out the exam in those years – recalls mother Mirella -. It took some time to get the results, but we finally knew the cause of all our daughter’s problems and a name was given to the rare disease that had affected her, caused by a mutation of the CTNNB1 gene. Era the odyssey to get the diagnosis thanks to this genetic test is overthe only one capable of identifying it.”
L’exome And other genetic tests fundamental for diagnosis of rare and very rare diseases, hitherto prescribed exemptlythanks to the use of a generic code, they could be paid soon having not been included in the new nomenclature of outpatient specialists (services within the LEAs, the essential levels of assistance), which will come into force in January 2025 after yet another postponement (we talked about it here).
Know the name of the disease and the first step For understand if there is a cure or the possibility for researchers to develop new therapies, but also for receive assistance adequate, in order to slow down the progression of the pathology and allow patients to have a acceptable quality of life.
That mutated gene
The CTNNB1 Syndrome It manifests itself in multiple variations; depending on the degree of alteration or mutation of the gene, The types of disorders and their severity may vary from child to child. The disease can cause neuro-motor delays, intellectual disability, language impairment, hypotonia of the trunk and hypertonia/spastic diplegia of the limbs, especially the lower ones, vision and behavioral disorders.
The loneliness (and strength) of families
«Having the diagnosis is fundamental – underlines Mirella –. After the initial shock of discovering that there is no cure for this ultra-rare disease, we took action looking for other families, on the internet and on social media; so we found a international facebook groupto which i parents of two Italian children with the same illness as our daughter. It meant getting out of that condition of terrible lonelinesscomparing ourselves with other families, becoming aware, for better or for worse, of what awaited us.”
The exchanges of emails and telephone numbers begin; the chatter on social media helps to find other Italian children with this syndrome. THE parents join forces and, to raise awareness of the syndrome and encourage scientific research on the symptoms and treatment possibilities, constitute an AssociationCTNNB1 Italia, which today also uses a Technical-scientific committee multidisciplinary.
«Since then – reports Mirella, who is also the president of the Association – other families have contacted us from different regions and today we have reached 27 patients in Italy with CTNNb1 syndrome.”
Hope in research
Associations they were established in various countries around the world Also to stimulate and support research projects about the disease.
The president of CTNNb1 Italia reports: «They have been started two scientific studies about the disease, one in Slovenia, the other in the United States. Now, finally, a project has been started in Italy too pilot project coordinated by the Gaslini Institute and the Italian Institute of Technology of Genoa to explore, with the help of artificial intelligence, new potential pharmacological treatments for the CTNNb1 Syndrome. At least there is hope improve the quality of life of our children: it is their right, like any other sick person.”
Parents and growing children are confident in the research that continues. The families of CTNNb1 Italia have mobilized to support the Italian project with a fundraiser, also on the GoFoundMe platform.
The Association is organizing the first international conference in Italy which will be held on 6 and 7 September in Acri, in the province of Cosenza: an opportunity to take stock of the research with researchers and clinicians from Italy and other countries, but also for exchange information between parents.
Unrecognized disease
The pathology it is not recognised as a rare disease by the National Health Service not being inserted in the list of rare diseases Annex 7 to the Essential levels of assistance, therefore It does not have its own code that gives right to exemption from the ticket for all appropriate services for the treatment and monitoring of the pathology and for the prevention of further worsening, nor to specific protections and rights required by lawat a national level, for rare or very rare patients.
Lack of assistance
There is also a lot to be done on theassistance. Silvia’s mother says: «According to the indications of the Bambino Gesù specialists who follow my daughter, she would need to do physiotherapy, cognitive-behavioral therapy, speech therapy, occupational therapy. But ours ASL no longer guarantees these therapies now that he is 11 years old. As they grow, these patients become almost invisible and the therapies are paid by the family. But the little girl is not healed, on the contrary: risks getting worse. In recent years, my daughter has had three fractures following trivial falls – says Mirella –. Since she has one spasticity in the lower limbs (excessive rigidity), with a loss of perception of his motor activitycan lose your balance and fall. So, for her there rehabilitation is essential, but it is no longer possible to access it at the expense of the Health Service. If a family cannot afford private care, are these children abandoned? We parents ask that our children be guaranteed this adequate healthcare – like all the other patients – and one holistic management because, unfortunately, they will never stop being sick. And it would be support for families is also needed, who find themselves facing enormous difficulties alone.”
Good practice
The care of patients can change from Region to Region, sometimes even from Local Health Authority to Local Health Authority. There are also positive experiences.
«The scientific literature for CTBNN1 is scarce and not homogeneous – says Dr. Fabrizio Paolini, child neuropsychiatrist of the Fondazione Inclusione Salute e Cura Roma Litorale ets, a highly specialized body accredited with the Lazio Region Health Service, which deals every day with over 450 children with disabilities –. Our center therefore tried to personalize the neuropsychomotor rehabilitation path and to model it on the development profile and clinical picture, intervening early, with specific therapy, on the delay of psychomotor acquisitions – which represent one of the characteristics of the syndrome – and, secondly, adapting therapy to the expected development in that particular genetic profile. Among the characteristics linked to the CTBNN1 there is also an important one both tactile and auditory hypersensitivity which makes everyday life difficult, for example: dressing the child, making him wear shoes and socks, putting his feet on the ground or the presence of medium/high sounds. Other interventions – continues Dr. Paolini – concern theacquisition of basic neuropsychomotor skillsthe expansion of the entire repertoire of action schemes for boost up also the part of language – compromised by CTBNN1 – and the management of a series of behavioral disorders. Through neuropsychomotor intervention is essential accompany parents in knowing the skills and not just the difficulties of one’s child, so as to define a true therapeutic alliance that is fundamental to obtaining the results achieved.”
 extremely rare disease discovered only 4 years ago. Just 27 patients in Italy){kind=link}