Thursday, 6 March 2014
Rare Disease Day
International Rare Disease Day was on 28 February. The day gives us an opportunity to support those whose lives have been impacted by a rare genetic disorder. It is also an opportunity to raise awareness about the importance of supporting the many families, friends and carers who live with the rare disease on a daily basis. Rare diseases are life threatening, often chronically debilitating and complex, and an estimated 2,000,000 Australians are suffering from one or more 8000 registered rare diseases. Collectively, rare diseases are surprisingly common, affecting 10 per cent of the Australian population with 400,000 of those being children.
My electorate has its fair share of residents suffering from rare diseases, but all too often we forget the personal story and the incredible support system that often surrounds these special people. Today I would like to make special mention of 16-year-old Caitlin Caruso, who has ataxia telangiectasia, known as AT; 25-year-old Sammy Joe Listro, who was diagnosed with trichothiodystrophy, TDT; and four-year-old Caleb Faria, who has Hunters syndrome.
Caitlin Caruso is 16 years of age and lives in Craigieburn. At 18 months she was misdiagnosed with cerebral palsy, due to a lack of understanding at the time of AT and at seven years she was finally diagnosed with her condition, AT. The disease is so rare that epidemiologists estimate its frequency to occur in one in every 40,000 births. It is incurable and there is much research still to be done on this recondition. AT is a progressive, degenerative disease that affects a startling variety of body systems. The onset of this ataxia marks the beginning of progressive degeneration of a part of the brain that gradually leads to a general lack of muscle control and eventually confines the patient to a wheelchair. Even though AT is a multisystem disorder, the children afflicted have and maintain normal or even above normal intelligence. This could not be more true for Caitlin. Caitlin has a sharp sense of humour and enjoys drawing and the arts. She loves taking pot shots at her Uncle Paul for worrying about his hair loss when in reality she is the one who has the condition that Paul, I am sure, does not have. Caitlin goes to Glenroy specialist school enjoys fashion design and debating. Caitlin wants to be a vet, but realises there may be some limitations but at the moment is just happy to work with animals. If Caitlin's grandparents' dog Max is anything to go by, then Caitlin has chosen her profession well. Max the dog cannot wait for Caitlin to visit and waits by the front door for her to arrive. Once she is within his sights, Max never leaves her side. Despite her illness, like many others who suffer from rare diseases, Caitlin enjoys a rich, full life which is made possible by the support of her parents, her younger brother, Jake, her grandparents and an extended family of uncles and aunts.
Sammy Joe Liistro has many supporting family members around him, but it was the unfaltering support of a mother's love that brought me into contact with Sammy Joe many years ago. Sammy Joe's mother, Maria, approached me to help her help her son live the best possible life he could after he was diagnosed with trichothiodystrophy at the age of 13. Sammy Joe has recently turned 25. Maria Liistro, in an attempt to spread awareness about her son's condition, went on to establish the Friends of Sammy Joe Foundation in 2006, an organisation which offers support to other families in similar situations. According to her information, 68 families in Australia are affected by TDD. TDD is a rare genetic disorder that affects many parts of the body. Those with the condition have brittle hair and skin sensitivity to light and ultraviolet rays. It can also produce immune deficient cells, premature ageing in facial features, poor weight gain and autistic characteristics.
Sammy Joe is truly a miracle child. He is now 25 years of age. He has managed to survive against the odds. He is an inspiration to his family, his friends and his brother, Christian, who absolutely adores him. He is the apple of his father's eye. I had the great pleasure of meeting Sammy Joe a few years ago and I can tell you that he is an absolutely delightful human being. Unfortunately, the condition he has does not allow him to go outside. He has to be very careful. The sun, for this young man, poses a great danger. I congratulate Maria for her devotion to her son Sammy Joe. (Time expired)