The AADC Research Trust was founded in 2006 and it had a very specific purpose…
- To globally disseminate as much medical and scientific information and improve disease awareness about ‘Aromatic Amino Acid Decarboxylase (AADC) deficiency’.
- To raise 1,000’s of pounds to fund AADC medical and scientific research through sponsorships, organised events and its charity shop, eBear’s Attic.
- To comfort and support newly diagnosed AADC families, as well as continuing to assist families previously diagnosed, whom we have come to love and respect over the years.
Since our inception, the discovery of over 100 children Worldwide, spanning more than 30 countries leads us to ask ourselves "exactly how rare can this condition be when any child, from any culture or any country can be affected?”
Children affected by this genetically inherited neurotransmitter brain disease, Aromatic Amino Acid Decarboxylase deficiency, ‘AADC’ for short, are extremely unwell with a complex compilation of symptoms. Many of its characteristic’s include breathing difficulties, excessive drooling and sweating, autonomic instability and gastrointestinal difficulties. Motor function is usually severe with disorganised muscle tone; fluctuating between (decreased) floppiness and (increased) rigidity. For 99% of affected children, the most problematic symptom (but not necessarily the most life threatening) is the oculogyric crisis (OGC); eyes deviate upwards, maybe to one side and can remain in a fixed gaze for several hours at a time. For some, this can also be accompanied by a change in muscle tone, causing the body to become rigid with a backward arching and stiffening of the spine, together with severe pain and discomfort. OGC’s can be as regular as clockwork, attacking a child every 3 days, lasting up to 8 hours and with no obvious causative reason. During this period children are extremely distressed and difficult to comfort. The multiple symptoms suffered by AADC deficient children vary in their severity and each child needs to be individually and carefully assessed. Not all children survive this disease.
It is still difficult to identify children suffering with AADC deficiency because there are many symptoms which can mimic other conditions and the diagnostic procedure to confirm the disease is invasive, usually requiring anaesthetic and hospitalisation. Samples drawn have to be sent to particular laboratories and the results analysed by a scientific specialist. One of the Trust’s quests is to simplify the testing procedure so children showing symptoms are more easily identified and as early as possible. It is realistic to believe that once disease specific markers are identified in plasma, a simple blood test will be all is needed to confirm a diagnosis. Research is well underway to find those markers!
It is an actuality that children worldwide suffering with AADC deficiency may be misdiagnosed with conditions such as cerebral palsy, myasthenia gravis and seizure disorders to name a few.
Once diagnosed with AADC deficiency, a trial of several medications, usually used for the treatment of adults with Parkinson’s disease, would ensue. These medications, when combined, have the potential to enhance their chronic and severe disabled state. Improvements can range from negligible to substantial, depending on the severity of their disease.
An AADC-AAV Gene Therapy trial, originally designed for the treatment of Parkinson’s disease, has recently been given the go ahead by the FDA in the USA for AADC deficiency…this is a major step forward for children suffering with this disease.
I apologise for such a lengthy introduction to our children and our cause but there is no quick and easy way to explain such a complex and disabling brain disease…
Please feel free to explore the links throughout this site. If you would like to know more in-depth details, about one of the World’s rarest neurological neurotransmitter brain diseases!
We are always looking for fresh ideas and new support. If you feel you can get involved, in whatever capacity, your input would be hugely appreciated. Please find time to take a look at our links on the left of the home page and see if you would like to be involved.
Any help you can give would be so worthwhile in helping to change these beautiful children’s lives.