Sunday, 3 January 2010

Harry John Crowther

Meet Harry Crowther our 10 year old son who has a rare genetic disorder known as Atypical Progeria/Progeroid Syndrome (APS),(NON CLASSICAL PROGERIA)associated with Mandibuloacral dysostosis and Lamniopathy whereby Harry has a defect with the LAMIN A/C gene (LMNA). Though not to be confused with the classical Hutchinson Guilford Progeria Syndrome (HGPS) it means that Harry is small for his age has no body fat and has similar facial features to a child with HGPS.
Both are premature ageing disorders.
Progeria is an Italian word, meaning " Prematurely old"
Also he has short clavicles (collar bones), a small mandible (jaw) and facial dysmorphism and his skin is thin , atrophic (aged) and sclerodermatous, especially over his hands and feet. The majority of his body is covered in darker skin pigmentation which resembles large freckles.

Harry has a better life expectancy than a child with HGPS though its recommended he has yearly Trans Thoracic echocardiograms as some paitents with APS develop cardiac abnormalities including valvular problems. Harry's growth and height is also monitored. He also has to maintain a low fat diet and continue with physical activity though he does become tired easily.Unlike HGPS children Harry has no hair loss though his hair is very coarse and slow growing. He has also given a sample of his hair for testing & research.
Harry had to travel to the UT Southwestern Medical Centre, Dallas Texas for his diagnosis and he is believed to be the only known child in the UK with a confirmed diagnosis of APS. There are only 16 reported cases worldwide.(This number was correct in August 2008) He was only diagnosed at the age of 7 after rounds of tests and other missed/incorrect diagnosis.

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