In Port-au-Prince, Haiti, 13-year-old Marlie is dying. Because of a rare genetic condition known as fibrous dysplasia, Marlie’s bones are transforming into a huge growth, or lesion, that distorts her face, stretches her skin, crushes her windpipe and forces her eyes apart.
Fibrous dysplasia is very rare; not much is known about it, and there is no known cure. Levels of the transcription factor C-fos are raised in fibrous dysplasia, leading to gene over-expression and tumour formation. It is not hereditary. There are two types of fibrous dysplasia:
Monostotic (Involving a single bone)
Polyostotic (Involving many bones).
The most severe form of polyostotic fibrous dysplasia is known as McCune-Albright syndrome.
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Released in 2007. TV documentary, part of the Extraordinary People series.
