Ted's Gene Therapy Journey...
Ted's recovery from AAV2-hAADC Gene Therapy ... a new chapter!
Over these past two days I have had the privilege of witnessing 'firsthand' a
spectacular event, a truly surreal personal experience and one I will never forget!
Professor Manju Kurian, Consultant Paediatric Neurologist at Great Ormond Street
Hospital and myself Lisa Flint, Founder and Managing Director of the AADC Trust,
travelled to Poland and had the opportunity of joining brilliant Neurosurgeons,
Professor Krystof Bankiewicz, Prof Miroslaw Zabek, Dr Jakub Onikijuk, Dr Thomasz
Pasterski and the rest of their extended surgical team in the operating theatre to observe
them performing a pioneering gene therapy treatment on one of our Aromatic Amino Acid
Decarboxylase deficient children.
The complex and precise infusion of AAV2-hAADC to the Substantia Nigra and Ventral Tegmental Area of
the brain cannot be underestimated. The planning, the focus, the calculations, the discussion and the final execution were ingenious! Live imaging of the initial slow infusion of the corrective aadc enzyme, encased in a virus vector, allowed the team to be confident it was hitting the right spot as the magical white mark appeared on their screens.
Ted, whom I've known for most of his life, is from Swindon in the UK and suffers with Aromatic Amino Acid Decarboxylase deficiency (AADCd). Yesterday he was the 1st UK child to undergo 8 hours of brain surgery, in the safe hands of a dedicated team of more than 12 medical experts, in a 'State of the Art' facility, at the Interventional Neurotherapy Center at Brodno Hospital, Poland.
On the side-lines, Ted’s emotional family, kissed him as he went to sleep and handed him over, for what must’ve seemed like an eternity.
Excited, but also terrified about whether they had made the right decision to let their precious 10-year-old son have the pioneering AAV2-hAADC gene therapy treatment, which would essentially replace his missing enzyme required to produce dopamine.
But their decision was made long ago, the family knew if Ted ever had the opportunity to have AADC Gene Therapy, they would agree to it.
Ted’s own bright and bubbly personality captivated all who met him, but he was very fragile, severely disabled and plagued with the complex life-threatening symptoms, his disease bore down on him, on an almost daily basis.
Through his bright smile (and his constant attempts to reach out and steal your mobile phone, causing him to laugh out loud), Sven and Zoe instinctively knew the depth of suffering he had endured throughout his 10 years.
Thankfully, returning from surgery, Ted came around with a smile and asked for his iPad, which instantly caused tears and brought relief to his very tired mum and dad... While comforting him, they knew the next 24 hours were critical.
But the excellent dedicated medical staff surpassed themselves, performing an all-night vigil, ensuring he was stable and comfortable in this exceptionally clean environment.
Today Ted is tired, understandably, he’s just had major brain surgery.
But there’s no lengthy rest for this little man, a more positive future awaits him, and the hard work is only just beginning. The team want him to be awake and moving, to gradually improve circulation, whilst temporarily returning him to his strict drug and feeding regime, which had already dominated their lives for past 10 years.
Over time, maybe a few months or more, Ted’s natural dopamine production will somewhat be restored. His many 'Parkinson's medications will gradually be withdrawn and the 'almost certain' post-surgical dyskensia’s all disappeared, paving the way for a future free of oculogyric crisis and the many other symptoms caused by this devastating underlying neurotransmitter disease; AADC deficiency.
Ted and his whole family have woken to new beginnings and we’re excited to be following their journey and sharing it with you, at their request.
Ted's story is not unique in our small community, as 9 x brave AADC deficient children have already undergone this pioneering, disease transforming, surgery under Professor Bankiewicz. Some of our children are now ‘2 years’ post-surgery and have made significant and amazing progress.
On behalf of our global community, I would like to THANK AADCd medical experts, Professor Manju Kurian, Dr Toni Pearson and Dr Roser Pons for being so committed to the health of our children and supporting them through this treatment.
Finally, to Professor Bankiewicz and your expert team. The success of the AAV2-hAADC gene therapy to the substantia nigra and ventral tegmental area is a testament to your many years of dedicated work perfecting this treatment. We thank you for delivering a lifesaving, disease improving, affordable AND available treatment, to all of our Ultra-RARE worldwide community.
A massive thank you to Columbus Children's Foundation for funding Ted's treatment.
Truly exciting times!
mum to AADCd sufferer Jake (21)
Founder & Managing Director of The AADC Trust (2006)
Gene Therapy : Target Area Substantia Nigra Pars Compacta & Ventral Tegmental
(based on GT approach developed under NHI grant, approved by the FDA, 2 US IRB's and constitute experimental treatment to save lives of ADAC deficient children).