Martina Isabel is 6 years old and is as sweet as she is cheerful. She loves playing with her little brothers and sisters and her friends at school. She has a lively tone of voice and when she comes along she really comes into her own. Her sense of humour is infectious and she is loved by all who know her. She loves dolls and in her fairy world there is always room for another doll.

Martina talks, sings, dances, tells her story and makes many drawings all full of love. Martina is particularly empathetic, generous and affectionate, she already has many princess dreams that will always remain beautiful dreams. Since she was three years old, Martina has been unknowingly fighting the insidious disease that only then began to show its first signs. By her fourth birthday she had already experienced the operating theatre, drips and invasive operations, but she always remained strong and cheerful.

Dad, better known to Martina as ‘Daddy my love’, calls her ‘my little tank’ for the strength, cheerfulness and serenity with which she faces every challenge. She is a tough one Martina! She would like to be a dancer when she grows up, even though she has difficulty coordinating her movements. Martina loves dancing and loves music. She struggled when she lost her hearing at the age of five and her musical world fell apart. She then underwent emergency surgery without results then hearing aids, there was no explanation for this, but the problem seemed to have partially settled.

Mum knew there was something else, even though the geneticist had ruled it out and insisted elsewhere until she had a diagnosis that explained everything: Mucopolysaccharidosis 3A, the worst, also called Sanfilippo syndrome. This nasty, wicked and lethal evil shattered all the dreams of an adorable little girl destined to eclipse because to date there is no cure. So let’s think about the present, Martina is now well even though the disease is progressing. It is a sweet and sad story told one day at a time, one hour at a time.

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Al momento per i nostri piccoli non c’è una cura, ci sono solo dei piccoli espedienti per cercare giornalmente di convivere con i sintomi ma c’è una cosa importantissima su cui dobbiamo avere speranza: la ricerca.

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