17 שנה חיה שלי נלחמת על החיים שלה, עכשיו יש לה סיכוי לחיות! אל תתעלמו!

Last week we launched our #oneRAREstep Campaign to raise funds to enable our AADCd children to access life saving and life transforming pioneering brain delivered AAV2-hAADC Gene Replacement Therapy. For more information on this please visit our website: www.aadcresearch.org and our JustGiving Page: https://www.justgiving.com/campaign/onerarestep We are very proud of our AADCd families and want to share with you the amazing efforts that they are making to raise awareness and funds by engaging with their local communities and various media platforms…. Haia: Haia has now raised the funds needed for her Gene Replacement Therapy but they CONTINUE to help raise awareness and have appeared in a video on an Israeli News Channel. Please click on the link below to view Haia's video: https://youtu.be/tYBxHNXkxUI If you are able to take part, help or share this with your community PLEASE do. Every little helps…💙💙💙 #oneRAREstep #CureAADC #CureAADCd

Photos from The AADC Research Trust's post

Last week we launched our #oneRAREstep Campaign to raise funds to enable our AADCd children to access life saving and life transforming pioneering brain delivered AAV2-hAADC Gene Replacement Therapy. For more information on this please visit our website: www.aadcresearch.org and our JustGiving Page: https://www.justgiving.com/campaign/onerarestep We are very proud of our AADCd families and want to share with you the amazing efforts that they are making to raise awareness and funds by engaging with their local communities and various media platforms…. Hallie: So far Hallie has raised an incredible £35,844.25!!! Hallie’s family have participated in two news interviews – one with the BBC North West and one with ITV North West. They have also appeared in several newspapers and journals. The Girl Boss Academy are fundraising for them which includes the 10 Peak Challenge! And a friend took part in the Wigan 10k. Please click on the links below to read more: BBC North West: https://www.facebook.com/BBCNW/videos/2348878275378597/ ITV North West: https://www.facebook.com/barry.gumbley/videos/10156544873497849/ The Leigh Journal: https://www.leighjournal.co.uk/eedition/ The Girl Boss Academy: https://www.facebook.com/TheGirlBoss.info/videos/477038612852413/ If you are able to take part, help or share this with your community so that Hallie can reach her target then PLEASE do. Every little helps…💙💙💙 #oneRAREstep #CureAADC #CureAADCd

Boy, 5, denied life-changing NHS therapy - even though he can't walk or talk — Mirror Online

Last week we launched our #oneRAREstep Campaign to raise funds to enable our AADCd children to access life saving and life transforming pioneering brain delivered AAV2-hAADC Gene Replacement Therapy. For more information on this please visit our website: www.aadcresearch.org and our JustGiving Page: https://www.justgiving.com/campaign/onerarestep We are very proud of our AADCd families and want to share with you the amazing efforts that they are making to raise awareness and funds by engaging with their local communities and various media platforms…. Huzaifah: So far Huzaifah has raised an incredible £25,591.00!!! Huzaifah’s family have a news article in the Daily Mirror and are holding a Family Fun Day. Please click on the link below to read more: The Daily Mirror Article: https://apple.news/Ai4x390xLQ3mk-Zp-gHf8sQ If you are able to take part, help or share this with your community so that Huzaifah can reach his target then PLEASE do. Every little helps…💙💙💙 #oneRAREstep #CureAADC #CureAADCd

Marcus Allen: My Gene Therapy Quest | #hopeforMarcus

Last week we launched our #oneRAREstep Campaign to raise funds to enable our AADCd children to access life saving and life transforming pioneering brain delivered AAV2-hAADC Gene Replacement Therapy. For more information on this please visit our website: www.aadcresearch.org and our JustGiving Page: https://www.justgiving.com/campaign/onerarestep We are very proud of our AADCd families and want to share with you the amazing efforts that they are making to raise awareness and funds by engaging with their local communities and various media platforms…. Marcus: So far Marcus has raised an incredible £19,014.57!!! Marcus’s family have created a professional video telling his story to help with his fundraising campaign and to raise his profile. Please click on the link below to view Marcus’s video: My Gene Therapy Quest Video: https://youtu.be/8_8wUZsIdps If you are able to take part, help or share this with your community so that Marcus can reach his target then PLEASE do. Every little helps…💙💙💙 #oneRAREstep #CureAADC #CureAADCd

Photos from The AADC Research Trust's post

Last week we launched our #oneRAREstep Campaign to raise funds to enable our AADCd children to access life saving and life transforming pioneering brain delivered AAV2-hAADC Gene Replacement Therapy. For more information on this please visit our website: www.aadcresearch.org and our JustGiving Page: https://www.justgiving.com/campaign/onerarestep We are very proud of our AADCd families and want to share with you the amazing efforts that they are making to raise awareness and funds by engaging with their local communities and various media platforms…. Zulal: So far Zulal has raised an incredible £3,360.31!!! Zulal’s family and have managed to appear on two Turkish News Channels and have been contacted by a famous singer who we are looking forward to working with in the hope that they will help raise Zulal’s profile. Please click on the links below to read more: Bayaz News Video: https://www.facebook.com/zuzuemin/videos/2590985417618552/ Ihlas Haber Ajansi News Article: https://www.iha.com.tr/haber-minik-zulalin-yasama-tutunmasi-icin-600-bin-lira-gerekiyor-797721/ If you are able to take part, help or share this with your community so that Zulal can reach her target then PLEASE do. Every little helps…💙💙💙 #oneRAREstep #CureAADC #CureAADCd

Photos from The AADC Research Trust's post

Last week we launched our #oneRAREstep Campaign to raise funds to enable our AADCd children to access life saving and life transforming pioneering brain delivered AAV2-hAADC Gene Replacement Therapy. For more information please visit our website: www.aadcresearch.org and our JustGiving Page: https://www.justgiving.com/campaign/onerarestep We are very proud of our AADCd families and want to share with you the amazing efforts that they are making to raise awareness and funds by engaging with their local communities and various media platforms…. Luke: So far Luke has raised an incredible €2323.81!!! Luke’s family have worked hard in Ireland and participated in a morning TV programme, had an interview on the East Coast FM Radio Station, appeared in several Newspapers for example The Echo, The Gazette and The Herald. They are even holding a Five A Side Tournament! Please click on the links below to read more: East Coast FM Radio: https://www.eastcoast.fm/podcasts2/podcasts/the-morning-show/episode/emma-stiles/ The Gazette: https://dublingazette.com/news/clondalkin-mother-34563/# Five A Side Tournament: https://www.facebook.com/declan.potter.98 If you are able to take part, help or share this with your community so that Luke can reach his target then PLEASE do. Every little helps…💙💙💙 #oneRAREstep #CureAADC #CureAADCd

We are absolutely THRILLED to share the news with you that the beautiful Jasmine, after 3 attempts (since the San Francisco Trial) through various reasons, including pneumonia, has now received AAV2-hAADC Gene Therapy Treatment in Ohio, USA. According to mum and dad, Jasmine is recovering well after this major brain surgery and many hours in the theatre. Please join us in wishing this beautiful little girl a speedy recovery with much health and happiness to come. Professor Krystof Bankiewicz and his incredible medical teams, both in the USA and Poland, have now performed this transformative surgery on 11 AADCd children. The results are demonstrating significant positive shifts to our children’s severe symptoms caused by their underlying ultra-RARE genetic 'Parkinsonism' disease; Aromatic Amino Acid Decarboxylase deficiency (AADCd), transforming their lives and providing the potential to reach major developmental milestones which were not achievable prior to the surgery. This pioneering treatment is setting the benchmark for future treatments of neurometabolic diseases caused by a single gene defect. We are truly grateful for the extraordinary work carried out by Professor Krystof Bankiewicz and his team and for their dedication to our children. Their commitment to treating our children is exceptional. We hope to bring you more news soon of Jasmine’s recovery and how this impacts the lives of her beloved family and the many supporters who surround her. We love you Jasmine ❤️❤️❤️ #CureAADC #CureAADCd #oneRAREstep

Photos from The AADC Research Trust's post

Anyone know how we could get Winner 2018 US Open; Brooks Koepka, to sign this amazing ‘Limited Edition’ golf bag we kindly had donated ... @BKoepka United States Golf Association - USGA so we can auction and raise funds for Gene Therapy for our children suffering with AADCd #CureAADCd Many Thanks 🙏🏻 xx

Photos from The AADC Research Trust's post

How is it we keep moving 2 steps forward and then a massive, unbelievably devastating,10 steps back! I DO NOT want to share the news about the loss of another of our AADC warriors but here we are, and it is with an absolute broken heart that we are forced to say another goodbye to our little ‘Captain America’ as Logan gains his wings and leaves us. Brave Logan, who only celebrated his 5th birthday this month, passed away in his sleep in the early hours of Sunday morning. He was a beautiful little soul with an infectious smile. He lived in the US with his parents Laura and Chris, and big sister Ryleigh … they were an utterly devoted family who will struggle to come to terms with their devastating loss. Our hearts go out to them as they adjust to life without their beautiful baby boy. One minute, one hour, one day, one week, one month, one year at a time, but it will never be the same, that’s for sure! Logan, as you join our other courageous, fearless AADCd angels in heaven, have fun, dance, sing and finally be free from your exhausting battle with this disease. Another star will surely be brightening up our skies. The AADC Trust must continue the fight and stand strong trying to find an ultimate cure for our children still battling with Aromatic Amino Acid Decarboxylase deficiency. Thank you to everyone supporting this family as they adjust to their overwhelming loss. With all our love Lisa, Tony, Jake, Charlie, Emma & James, Ben & Christie And our deepest condolences from everyone at The AADC Trust & all our families around the World #CureAADC #CureAADCd

Photos from The AADC Research Trust's post

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, Prof 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. Please visit our website to read some of their incredible stories at www.aadcresearch.org Now, all we need to do, is deliver the same opportunity to every other AADC deficient child or young adult around the world. It’s no longer impossible, BUT absolutely achievable! 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! Lisa Flint mum to AADCd sufferer Jake (21) Founder & Managing Director of The AADC Trust (2006) #CureAADCd

A massive thank you to Jasmine Mclennan who took part in the Cotswolds Challenge, a 60mile (100km) trek from Bath to Cheltenham on 29th June - 30th June. Not only did she have to walk all that way but she did it on the HOTTEST day of the year 🥵!!! Well done Jasmine and all the other participants. I know many suffered terrible heat stroke and exhaustion so you should all be very proud of yourselves! Jasmine has raised £590.00 so far for the AADC Trust. Thank you from all of us 💙💙💙

Photos from The AADC Research Trust's post

Today we lose our beautiful poster girl ‘Queen LILY’ to the deadly disease AADCd … our brave LILY, age 17, suffered the very WORST symptoms of Aromatic Amino Acid Decarboxylase deficiency (AADCd). This gorgeous child fought with every breath of her body, every day of her life. Suffering oculogyric crisis (OGC) where eyes become stuck in an upward glance, to one side, with a full body dystonic attack, causing a rigid arching of the spine with all limbs stiffening. This happened every 3 days, EVERY 3 DAYS, for 8 HOURS at a time, for years and years! Since the AADC Trust began in 2006 Lily was our poster girl, featuring the awful OGC in our Charity brochure which has been in circulation for more than a decade, enlightening the world to this common symptom. A symptom so frequent amongst our group yet so often overlooked by medics as seizures, regularly causing misdiagnosis in those early days. Our two families worked together to raise awareness globally and made diagnosing AADCd and other neurotransmitter diseases possible in Malaysia in 2009. A legacy left by this gorgeous girl who helped diagnose so many sufferers in this region thereafter. Lily’s mum Melati dedicated 3 years to studying AADCd in the hope of finding a solution to her daughters’ (and other AADCd children’s) illness. Mel completed her PhD in Australia, but sadly the findings were not enough to change the path of this destructive complex brain disease. A truly stoic attempt towards discovering a cure for her own (and our) babies! Devastatingly, a missed opportunity for Gene Therapy in Taiwan in 2015, meant the future looked bleak for our LILY and to that end, here we are sharing that bleakest moment. I will forever feel a personal immense depth of failure towards Lily! To our dear Malaysian friends, Shah, Mel and Lily’s beautiful sister Azalea, may Lily rest peacefully and finally be pain free … Lily is an Angel in heaven, free to dance and sing with our other babies and brightening the sky with yet another sparkling STAR! With Fondest LOVE Lisa, Tony, Jake, Charlie, Emma & James, Ben & Christie Our deepest condolences from everyone at The AADC Trust & all our families from around the World! #CureAADCd