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Latest update: 12/11/2009
- diseases - health
This week: Rare illnesses affect some 20 million Europeans
Health looks at rare illnesses, meeting a girl with Ondines curse before crossing over to Canada to find out more about Fabry’s disease.
By Eve IRVINE
At ten years of age Chloe has learned to live with Ondines syndrome: a disorder of the central nervous system where the automatic control of breathing is absent or impaired.
Their respiration is sluggish during awake hours and can be absent when sleeping, at times of stress or illness.
It means that Chloe has to use mechanical ventilation to bring air through a tracheotomy to help her get through the day. Her mother has had to stop working in order to be within minutes of the school grounds in case Chloe has a problem during the school day.
Ondines syndrome affects one in every 200,000 people; that’s roughly 500 people around the globe: 90 cases in France.
With such a limited number of people suffering from each type of rare illnesses getting funding for treatment or research is often difficult. Across in Canada a trial of two expensive treatments for Fabry's disease is struggling after the Federal government decided not to renew its financial support. Fabry's diesase is an enzyme deficiency that leads to heart or kidney defects and greatly shortens life expectancy. The treatments being tested cost the equivalent of 200,000 euros per person per year. The trial might now be shut down unless local governments offer a helping had and other financial support becomes available.
Finally HEALTH looks at something that isn’t rare when seen in teenagers or adults but which is also, to most people’s surprise, present in babies. Mental illness and depression can strike early, HEALTH meets mums at a specialized baby psychiatric centre in France.
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