Most of you know Jake, our precious son who was diagnosed with AADC deficiency at 3 1/2 years old after some 300 medical appointments. Before this, he was incorrectly diagnosed with quadriplegic cerebral palsy with a poor quality of life, unable to walk, talk or sit unaided.
When we were learning about this Parkinsonism Disease called Aromatic Amino Acid Decarboxylase Deficiency (AADC for short) there was almost nothing out there that was helpful to us. Jake started a cocktail of strong adult Parkinson’s medications which had an almost miraculous response. His early story is well documented and a 17 minute clip can be seen here when he featured on 'BBC1’s Critical Condition' many years ago. Jake was the 1st British child and the 17th known sufferer of AADC deficiency, in the World.
YOUTUBE CLIP OF JAKE
Jake is now 19 years old and growing into a lovely young man, whom we are so very proud of, but all that hasn’t and still isn’t without many problems along the way. Jake will forever remain drug dependant for mobility, speech and a fair autonomic function and will continue to suffer additional conditions such as Autism and Left Ventricular Systolic Dysfunction (heart disease). Jake lives at home and as a family we have supported him the only way we know how, with plenty of love, affection, dedication and devotion. Jake battles daily with this brain disease and we are in utter admiration of his fighting spirit.
There remains many 'ever-changing' medical issues and as his ageing parents fear for his future. The only saving grace is that Jake is surrounded by people who love him dearly including his two older brothers and their partners.
To improve Jake’s future, to offer him a level of independence and to prevent any serious and life-threatening medical issues surrounding the growing side effects from his 12 daily drugs, as well as becoming his ageing parents, we must continue on with our plight of the last 15 years and find a cure for this dreadful disease.
Tony and I, with the help of Jake’s many supporters and some of our older AADC families from around the World, have worked tirelessly to raise funds, awareness and initiate research during the past 15 years … we have basically written the text book for the early years of AADC deficiency for the benefit of those newly diagnosed families.
NOW … we must continue with the next chapter, the teenage and adolescent years. All of our experiences will continue to help our growing global AADC community and SO we still have much work to do and we NEED YOUR HELP!
We haven’t asked many of our family and friends for a while to support our son, our cause and his charity but are asking you now whether you would consider helping us raise awareness and join our Teddy Wears BLUE Awareness Campaign during 22nd May to 28th May and donate £2 to his page.
We are taking this Awareness Campaign GLOBAL and many of our AADC families are doing the same. We are hoping to raise money for more research to help us discover better treatment strategies for this group of complex children.
This is The AADC Trust's 10 year anniversary promotional videohttps://www.youtube.com/watch?v=beKaBQwlz8Y
With just 130 known suffering AADC deficient children worldwide, spanning 30+ countries Jake is one of just 5% who has responded so positively to drugs. For most there has been little or no benefit, for some it has cost them their lives.
PLEASE HELP US TO HELP JAKE AND ALL HIS AADC FRIENDS AROUND THE WORLD!
With much love
Lisa and Tony, Charlie and Emma, Ben and Christie
A Teddy animation which we developed about AADC deficiency for the benefit of families and their friends to help them understand the complexity of this disease in a simple way.
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