Rare diseases terrifying for new parents

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Rare diseases terrifying for new parents

Mother Pieta Harris was elated, then terrified of what lay ahead, when her daughter Matilda was born 14 months ago. Born with a rare neurological condition called Disorder of the Corpus Callosum (DCC), Matilda is missing the part of her brain that connects the left and right hemispheres.

The condition is largely unheard of resulting in individuals and families feeling isolated, scared and left to fight for services and support as people with DCC do not fit under many of the ‘ordinary’ support or funding schemes. People with a DCC may experience difficulties such as sensory processing disorders and learning disorders as well as epilepsy and visual impairments, or may have greater challenges such as an intellectual disability, cerebral palsy and autism.

Mandy Jacobs experienced the same rollercoaster of emotions when her two adult sons were diagnosed with Nieman Pick Type C (NPC) disease in 2008. People with NPC have problems with feeding, deterioration or loss of hearing and speech, experience seizures, dementia, chronic weight loss and are eventually wheelchair bound or bed ridden.

Currently there is no cure for the condition, limited treatments, and the life span of someone with NPC is around 10 years from diagnosis. There are only approximately 20 cases of NPC Disease diagnosed in Australia.

Most people have never heard of DCC or NPC – but to the families of people who suffer from these conditions, getting the word out is the first step in a very hard, uphill battle.

Rare diseases each affect less than one in 2000 people, but collectively about 8000 rare diseases affect 10% of the population- about 80% of these are genetic diseases. Rare diseases cause about 35% of deaths in children under one year old, and up to 10% for deaths between one years old to 15 years.

Rare Disease Day is a day aimed at bringing into focus rare diseases and raising awareness and profile on the condition, in the hope of improving the understanding of these types of conditions, and to ensure the special needs of people with rare diseases are recognised by governments and receive funding for research and community support.

The Genetic Support Network of Victoria (GSNV) are celebrating the 6th Annual International Rare Disease Day. In recognition of the many contributions made to rare disease awareness, treatment and research, the GSNV community and health professionals will facilitate important discussions and an awakening of public and government opinion on rare diseases

Source: Murdoch Childrens Research Institute 

Date Created: March 10, 2013 Date Modified: March 12, 2013

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