Organised by The AADC Research TrustTeddy Wears BLUE for AADC Awareness Campaign; Our 15 Year Anniversary : 24th May - 30th 2021. Join us in raising Funds and Awareness for our ultra RARE Brain Disease. Wear BLUE for AADC deficiency & DONATE to our cause "making a rare child healthy".
What an incredible 15 years it has been, shared with YOU. We have walked side by side on this rare disease journey. A journey that would not have been possible without the incredible support given to the Trust by YOU, our extended family of parents, siblings, aunts and uncles, grandmas and grandpas, friends, clinicians, scientists and so many many more
We will forever be grateful for your extraordinary support, determination and generosity. Thank YOU xxx
We began this journey together 15 years ago when the Trust was established by Lisa (mum to Jake now aged 23 years), with the incredible help of Tony (Jakes dad), Jacqui and Brian and Professor Simon Heales, who continue to share their expertise and time for our cause.
Determined to be a voice helping others on what was often a very lonely and frightening journey, it became the Trusts mission to raise awareness of this devastating disease, to reach out to other suffering families offering support and community, and to raise funds for vital research in the hope of improving our AADCd children's lives and eventually finding a CURE.
The Trust has gone from strength to strength, pushing the boundaries of the global medical and scientific community. It has established a vast network, connecting families with AADCd experts from all around the world. It has been an innovative force, driving research forward and improving treatment strategies. The Trust has improved the diagnostic odyssey with simplified testing. It has united and supported affected families from every continent on their rare disease journey
Our story is one of hope and strength. But it has not been without it struggles and heartache. Those we have lost will forever be in our hearts.
We owe our successes to YOU, so we would like to share some of them with you now
Here is a snapshot of the research we've been involved with...
In 2007 we funded our 1st PhD study, researching Substrate Accumulation in AADC deficiency leading to the thesis The Neurochemical Consequences of Aromatic L-Amino Acid Decarboxylase deficiency.
In 2010 the first AADCd data base was developed called Jakedb.
In 2017 a more extensive AADCd database was developed, by a consortium of global experts, replacing the Jakedb with the iNTD.
In 2011 the Trust drove the idea that the 30MD, a biomarker for AADCd, would be suitable for new-born screening leading to its use as a diagnostic tool today.
In 2015 funded the research into molecular insights into AADCd, studying how genetic variations play a role in symptomatology.
In 2018 we assisted in the creation of a 1st worldwide AADCd Natural History Study which was published in 2019.
In 2018 we funded our 2nd PhD study and drove the creation of an AADC dopaminergic induced Pluripotent Stem Cell (iSPC) model.
Here is a snapshot of publications and literature we've been involved with...
In 2017 we collaborated on and published the 1st Consensus Guidelines for the Diagnosis and Treatment of AADCd.
In 2019 we published a Chinese version of the Consensus Guidelines for the Diagnosis and Treatment of AADCd.
In 2015 we developed and published an AADC Disease Animation in English.
In 2018 a further 7 more languages have been created and published. Many of the voice overs are medical professionals who happily donated their time to creating these.
In 2013 we collaborated and published our AADCd Sibling Story Book in 3 languages.
In 2014 we printed a paper version of our AADCd Sibling Story Book.
The Trust has funded and coordinated multiple International AADCd Medical, Scientific and Family Conferences.
2006 - 2011 The Trust funded and held 5 medical meetings with global experts to discuss all aspects of AADCd and create a roadmap to curing the disease.
2008 - AADCd Malaysia Medical, Scientific and Family Conference (As part of an outreach project we worked with an AADC family in Malaysia to set up a local dedicated diagnostic facility in Kuala Lumpur)
2011 - AADCd 1st International Medical, Scientific and Family Conference
2014 - AADCd 2nd International Medical, Scientific and Family Conference
2016 - AADCd 3rd International Medical, Scientific and Family Conference
2018 - AADCd 4th International Medical, Scientific and Family Conference
2019 - AADCd 1st Medical, Scientific and Family Conference CHINA
Since 2006 we have raised over £2 MILLION for AADCd and invested in the most promising research.
Since 2017 we have launched 5 online Campaigns, raising nearly £400 THOUSAND for research and support.
In 2019 the Trust launched its extremely successful #oneRAREstep Campaign to raise funds for AADCd children to have access to ground-breaking Gene Therapy treatment.
Families involved in this campaign worked extremely hard with their local communities and have currently raised well over £350,000 and funded 4 of their children's surgery, with many more near target awaiting a date.
For over a decade the Trust has been a driving force in delivering two innovative Gene Therapy treatments to our children.
In 2009 the first pioneering neurosurgical 'compassionate use' AADC Gene Therapy to the Putamen was performed on an AADC deficient child in Taiwan. Following subsequent official trials, more than 30 children have now been treated in Taiwan. This GT is currently being licensed by PTC Biotherapeutics.
In 2017 a second pioneering neurosurgical gene therapy was developed and began a phase 1 trial in USA by Professor Krystof Bankiewicz and his team to the Substantia Nigra and Ventral Tegmental Area (SN & VTA). 7 children have been so far included in this study with more being recruited.
In 2019 Professor Bankiewicz also created a clinical facility in Poland for AADCd children worldwide to access GT to SN & VTA on a compassionate use basis. 15 children have accessed this treatment since the clinic opened.
The Trust has financially supported the application to the FDA (USA) for investigational new drug (IND) status for Gene Therapy to the SN & VTA.
By 2020 more than 50 AADC deficient children have undergone 2 variations of pioneering neurosurgical AADC Gene Therapy with many children experiencing life-improving outcomes.
2017 - 1st Annual Teddy Wears BLUE for AADCd Awareness Week
2018 - 2nd Annual Teddy Wears BLUE for AADCd Awareness Week
2019 - 3rd Annual Teddy Wears BLUE for AADCd Awareness Week
2021 - 4th Annual Teddy Wears Blue for AADCd Awareness Week
Multiple social media platforms to unite families in a community.
A website to provide essential information and updates.
Sharing experience and knowledge.
Connecting families to the medical experts.
Awareness campaigns.
Funding travel, equipment, therapy.
Please donate so that we can continue our journey on the road to a CURE for our incredible AADCd children suffering from this devastating disease
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