IT COULD be mitochondrial or neuromuscular disease. Or even epilepsy. Difficult to navigate between very different symptoms and atypical instability in a newborn. Yet, the expertise, the attention, the love for his job which is basically a mission, have ensured that Luca, six months old, received the right diagnosis in the family pediatrician’s office in the province of Catania: Aromatic L-amino acid decarboxylase deficiency (Aadc), a very rare genetic disease. A story with a happy ending, which starts from Sicily and arrives in Tuscany.
A puzzle of symptoms
Luca (invented name) arrives in the office of his pediatrician, Maria Anna Libranti, with reduced muscle tone, lowering of the eyelid and uncontrolled eye movements. Symptoms not constant over time, but subject to considerable fluctuations and accompanied by an important gastroesophageal reflux. The doctor observes a particularly rare combination of elements, asks for genetic tests in his region, in the meantime he gets active with the family and finds a center of excellence in Pisa where the little one receives a diagnosis and is taken care of in a short time.
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The importance of the ‘coupon’ from the pediatrician
How did the pediatrician understand that it could be a rare disease? “Diseases are recognized if they are known – he explains Maria Anna Libranti, pediatrician of the child. Clearly we are not talking about all the numerous rare diseases, but about those signals that lead to the clinical suspicion of being faced with a rare pathology. We family pediatricians have, first of all, the task of recognizing the normality in the development of children during the Health Reports, which are “coupons” that are punctuated during the growth process, precisely with the aim of intercepting pathological changes in development “.
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The Decarboxylase Deficit of aromatic L-amino acids
What Luca suffers from is a very rare disease called Aromatic L-Amino Acid Decarboxylase Deficit. It is characterized by a reduced activity of this enzyme involved in the synthesis of the neurotransmitters dopamine and serotonin, responsible for the communication between neurons in the nervous system. “Estimated cases of AADC deficiency worldwide are 5,000, with a live birth rate of 1 in 40,000 globally. Most of the symptoms emerge in the first months of life and among the main ones are the decrease in muscle tone (hypotonia), movement disorders, uncontrolled eye movements (oculogyric crisis), development and growth retardation and alterations of the nervous system. autonomous, ”he explains Roberta Battini, Child Neuropsychiatrist at IRCCS Stella Maris, responsible for the team of rare neuromuscular-neurodegenerative and genetic diseases.
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From Catania to Pisa
“In Luca’s case, although the symptoms were linked to great instability, the clinical evaluation could not be minimized”, continues Libranti. “Already an electroencephalogram of the newborn reported some anomalies, even if similar manifestations often lead to confuse this pathology with other disorders such as cerebral palsy, mitochondrial diseases, epilepsy, sepsis and neuromuscular pathologies”. For this reason, after having intercepted and recognized the complexity of the case, the doctors of Catania referred the family to Irccs Stella Maris in Calambrone (Pisa), the Italian Center of Excellence for Child Neurology-Neuropsychiatry. “Of this experience – says the pediatrician – I remember the initial anguish of the parents who, after having finally given a name to their child’s illness, turned into a more positive and proactive attitude”. The child was hospitalized in Pisa from 15 to 21 January. On February 4th there was already the diagnosis.
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Neurodevelopmental disorders
Neurodevelopmental disorders appear more and more frequently in the family pediatrician’s office. “This is a real health emergency that requires early recognition strategies that allow for a timely diagnosis and, where possible, targeted treatment, so as to reduce the risk of passing from initial functional deficit conditions, in the absence of specific interventions, to the development of serious disabilities, with a significant reduction of potential active subjects, a great commitment of resources and high social costs ”, he says Mattia Doria, National Secretary for Scientific and Ethical Activities of the Fimp, National Federation of Pediatricians.
Health reports
The family pediatrician, through the checks carried out at scheduled intervals with the so-called Health Reports, assesses the child’s neuromotor development over time. “Central to this process – continues Doria – is the method that family pediatrics uses: enhancing the characteristic elements of the child’s normality, in order to bring out those who deviate from it. The activity we carry out can change the fate of a person suffering from a rare disease. That of our Sicilian colleague is a beautiful story that once again tells the irreplaceable and scientifically important role of the family pediatrician who, thanks also to the widespread presence in the area and the relationship of trust with families, is a sentinel of the overall health of the child ” .
The importance of early diagnosis
Unfortunately, drugs are now available to manage symptoms, but specific drug therapy compensates for the metabolic deficit avoiding worsening. There is currently no cure for the disease, although gene therapy is upon us. What makes the difference, however, in this as in other rare diseases, is the early diagnosis: “The sooner we understand the diagnosis and take care of the child, the fewer complications we will have on his neurodevelopment and the more we will be able to change the outcome”, declares Battini . “For this reason, knowledge of rare diseases must be promoted through family pediatricians. Who knows, remembers. And those who remember have free tests available at Level III Centers: just take a drop of blood from the baby’s heel and send the swab for the report to specialized laboratories. In the hope that soon, as happened with the SMA in Tuscany, this pathology will also be included in newborn screening “.
A test available to doctors and pediatricians
While waiting for this to happen, some initiatives have been launched to solve the problem of under-diagnosis. Recently, for example, PTC Therapeutics has signed an agreement with Centogene, a company specialized in DBS, with which it makes its platform available free of charge to all Italian doctors, including family pediatricians, to perform a specific test through the sending a card with a few drops of the patient’s blood to be evaluated. Within three weeks, the doctor receives the reply directly in his e-mail account. An extremely simple procedure, but still little known and practiced that could reduce the suffering of the child and his family, but also the social costs, direct and indirect, of the disease.
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