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Jake's Story

Who is Jake?
Tony and Lisa Flint’s son Jake, now 20, suffers with one of the World’s Ultra-RARE and complex brain diseases; Aromatic Amino Acid Decarboxylase (AADCd) deficiency. Their personal and extensive experience with the disease and at the time, severe lack of global support and research, inspired them in 2006 to found The AADC Research Trust.
 
The AADC Trust was formed with the help of Co-Directors Jacqui and Brian Jefferies, Medical and Scientific Director, Professor Simon Heales and of course with the support of family, friends and supporters.
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A journey to discovery ... 
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BBC Critical Conditions; AADC is a documentary charting the emotional journey of Lisa and Tony in the search of a diagnosis for their son Jake ...

Jake's oculogyric crisis without dystonic attacks 
Children with AADC deficiency suffer multiple and profound disabilites.  Almost all suffer with oculogyric crisis and in varying degrees.  The worst attacks are suffered by severely affected AADCd children who can experience their oculogyric crisis with a dystonic attack which causes body stiffness and arching of the spine, this can last up to 8 hours and occur every 3 days.

Jake's Story

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