"Hi, my name is Peter Maitan. I'm almost 15 and I was born with a rare metabolic disorder called Glutaric Aciduria Type 1."
Glutaric Aciduria Type 1, is an autosomal recessive neurometabolic disorder in which the body loses the ability to properly metabolise certain amino acids (lysine, hydroxylysine and tryptophan) due to the absence of the enzyme glutaryl-CoA dehydrogenase. When the levels of these amino acids and their metabolites becomes too high, they tend to accumulate in the brain, causing brain damage and sometimes mental retardation.
Worldwide prevalence is estimated at 1 in 100,000 births.
Daily management comprises a low lysine diet, carnitine supplementation in association with prompt emergency treatment during intercurrent illness.
Both Pietro's mother and father are healthy and previously unaware carriers of the disease.
Prognosis depends on a timely diagnosis and consequential management and treatment. Early diagnosis and control over the patients' diet can significantly reduce the risk of brain damage.
Born in Florence, Tuscany in 2000, Pietro was unable to take advantage of newborn screening that was to become mandatory two years later. His devoted mother, Laura, describes just how vital this screening could have been for Pietro: "I met another child who at the same hospital in Florence, Meyer, was diagnosed with the same disease of Pietro, but taking advantage of expanded newborn screening mandatory in Tuscany and Umbria, immediately began therapy and is a perfectly normal child. This delay in Pietro's diagnosis has unfortunately caused a severe neuromotor disability."
Laura recalls the difficulty in obtaining a diagnosis: "Pietro had no particular symptoms, he seemed to be a very quiet boy and his attentive eyes spoke for him. He was my first and only child so I had no terms of comparison. I had noticed that he had difficulty grasping objects, that he could not sit up nor "crawl" like children of that age. So I began to feel that there was something in him imperfect and I began to speak to several doctors, but did not have answers right away. Nobody noticed anything special, except the shape of the head, big enough and "strange". I also performed amniocentesis, but, as Glutaric Aciduria Type 1 it is not a disease that is diagnoses with this examination, everything appeared as normal."
Ultimately, it was Pietro's grandfather, a paediatric neurologist, who discovered Pietro's diagnosis at the age of 8 months by carrying out urinalysis as a result of Laura's insistence: "because I felt strongly that there was something wrong, he performed on a sample of his urine research of organic acids and so came the diagnosis. It was 19 December 2000."
Pietro's mother describes the difficulty in adjusting to living with a rare disease: "our whole life changed. Peter for the first seven years of his life had stopped eating, and for the first three years I continued to feed him in his sleep (6 meals a day), but following a metabolic crisis during a flu I had to resort to two years and a half of the nasogastric tube."
At the age of 4 years, Pietro underwent a percutaneous endoscopic gastrostomy (PEG), thanks to which, at 8 years old, Peter slowly began to accept food. Pietro has to follow a very strict diet with reduced protein content. Now, despite difficulties chewing, Pietro can eat all meals.
Despite being faced with all of these challenges, Pietro couldn't be more optimistic: "Despite everything I love life. I have a great sense of humour and I am very happy boy that loves theatre, music and singing. Every day I discover new things and I have a great strength of will."
"I love the theatre. I love singing, music and dance. I love going to the movies to choose my films to see at night, ride a bike, take long walks, I love plants, flowers, animals... So I love to live! I am very happy'.
Day to day life is difficult for Pietro and his mother: "Being the mother of Pietro is invented every day with a different world, a great joy: it's hard to find words to describe the depth of our relationship. It's very challenging, but the results of this effort are seen every day especially in the eyes of Peter".
The fight against Glutaric Aciduria Type 1 is very much a family affair: "Together with my mum I have enhanced a campaign to promote awareness on metabolic diseases so that others can be diagnosed at birth and have the chance to lead a life less difficult and tiring, even though beautiful, as mine."
Pietro currently lives in Rome with his mother where he is in the seventh grade in school. Pietro and his mother are helped by a team of people; from live-in help to teachers. However, it has not been easy. Pietro's mother has worked tirelessly to build a support network for their family: "Support was very tiring to get. I spent the first 10 years of his life almost exclusively relying on my strength, not being able to count on the support even from my family. In many years I was able to create with him a good team of people who help us."
Since 2005, Pietro's mother has been an active member of the Onlus Association of Florence: "For Pietro, I try to be always in action. For the many like Pietro who are hidden and do not have the courage to come out."