On 4th January it was an absolute honour for me to meet our amazing community of AADCd families in China who are struggling to find Professional support to treat their children. Having been contacted by them in August 2018 we worked quickly together to bring about our 1st AADCd Conference to China. Ten AADCd Chinese families attended, and the aim of the meeting was to raise disease awareness in this region. AADCd presents as a very severe, life threatening form, with children struggling to survive beyond 5 years old. The intention was to educate the medical community about the available treatment strategies being used elsewhere in the world, which were, to a greater and lesser degree, supporting all our other 150 known suffering children, spanning 30 countries.

Often existing treatments do not provide major improvements to a child’s complex array of symptoms, particularly motor function, but the chance of survival is significantly increased with good treatment and follow up care by those who understand this Ultra RARE Complex Disease. Collaborating with Professor Piu (Bill) Chan, an expert in Parkinson’s Disease from Beijing and Kevin Huang of Chinese Organisation of Rare Disorders (CORD) worked very well and even though Aromatic Amino Acid Decarboxylase deficiency (AADCd) was not included in the first published China RARE Disease Index, published in 2018, we are confident it will be included when republished in 2020. Also, we hope, by working with Professor Chan and other Professionals we may bring Gene Therapy to this growing population soon.