G
GrimFandango
Guest
Way back in June 2007 my wife gave birth to our adorable son Benjamin (see picture). Within 2 hours of being born it was discovered that Benjamin had bi-lateral cataracts it wasn't until the next day that it became apparent that he possibly had Lowe Syndrome. Lowe Syndrome is also known as OCRL (Oculo-Cerebro-Renal) syndrome. The syndrome is caused by a DNA mutation - a single defective gene on the X-chromosome - that results in the lack of an enzyme. The mutation can occur without any family history (a spontaneous mutation) or may be inherited through the mother. Babies are born with bi-lateral cataracts, hypotomia (muscle weakness), kidney problems (wasting of essential nutrients) impaired growth, intellectual impairment and later may suffer brittle bones, arthritis, rickets, epilepsy (seizures) and behavior problems (autistic spectrum disorder). Many also have cysts and dental problems.
As the months went by he had his cataracts removed at 8&9 weeks old and now had a peg into his stomach for feeding (lowes children struggle to thrive). On top of these problems he also has problems with his kidneys which means that he has supplements in his food everyday. Benjamin is a happy little boy but due to having Lowe Syndrome he will probably not live into his 30's and may always need constant care (which his dedicated mum provides everyday). He has learning difficulties which coupled with low muscle tone means that the development of his mobility is delayed meaning he may never walk or it will take longer than most children.
This is just a little background about my own son but to help all the sufferers of Lowe Syndrome myself and a friend (Adam Fitzsimmons), both from RAF Marham, are planning to cycle the width of the country, starting at holyhead ferry terminal (wales) and finishing at cromer pier (Norfolk). We plan to take only 3 days averaging approximately 100 miles a day. The dates for this event will be from 30th August - 1st September 2009.
Donations would be gratefully received at www.justgiving.com/jasonharwood and will go towards funding research that can help to extend the lives of these cheerful, loveable and friendly children.
For any further in you can contact me at jandrharwood@tiscali.co.uk
As the months went by he had his cataracts removed at 8&9 weeks old and now had a peg into his stomach for feeding (lowes children struggle to thrive). On top of these problems he also has problems with his kidneys which means that he has supplements in his food everyday. Benjamin is a happy little boy but due to having Lowe Syndrome he will probably not live into his 30's and may always need constant care (which his dedicated mum provides everyday). He has learning difficulties which coupled with low muscle tone means that the development of his mobility is delayed meaning he may never walk or it will take longer than most children.
This is just a little background about my own son but to help all the sufferers of Lowe Syndrome myself and a friend (Adam Fitzsimmons), both from RAF Marham, are planning to cycle the width of the country, starting at holyhead ferry terminal (wales) and finishing at cromer pier (Norfolk). We plan to take only 3 days averaging approximately 100 miles a day. The dates for this event will be from 30th August - 1st September 2009.
Donations would be gratefully received at www.justgiving.com/jasonharwood and will go towards funding research that can help to extend the lives of these cheerful, loveable and friendly children.
For any further in you can contact me at jandrharwood@tiscali.co.uk
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