Samuel’s Marathon Updates: His running post
This is a guest post sent by Rachel who is mummy to little Samuel and is keeping everyone informed (The first post) of the amazing marathon Samuel is undergoing and all the…
Alternating Hemiplegia of Childhood - UK
Registered UK Charity No: 1192701
This is a guest post sent by Rachel who is mummy to little Samuel and is keeping everyone informed (The first post) of the amazing marathon Samuel is undergoing and all the…
Attaching below is the PDF version of AHC UK’s Newsletter 5th March 2021. The newsletter talks about thanks to everyone who contributed to International Rare Disease Day (28th of Feb’…
Thank you to all at the ATP1A3 in Disease Symposium Organizing Committee for sending us this invitation via email. Please find below details and will be great if you all…
Today is International Rare Disease Day 2021 Why don’t you enjoy today with a ‘Rare Treat’. Can you donate the cost of Coffee & Cake for all the AHC Rare…
International Rare Diseases Day Dear AHC families, researchers and supporters, Today, Sunday 28th February 2021, is International Rare Diseases Day Rare Diseases Day is where the international community come together…
An Overview of Alternating Hemiplegia of Childhood (AHC) by Sanjay Sisodiya Professor of Neurology University College London Queen Square Institute of Neurology and Medical Advisor of Alternating Hemiplegia of Childhood…
Every AHC family I’ve spoken to has a diagnosis story, and I thought I’d share ours with you. We got Ruby and Sophia’s diagnosis in July 2019, when they were…
Great response we have got on the second day of the #AHCAwarenessWeek We asked people to show their support to all the AHC Champions but taking a picture of your…
Attaching New Year wishes sent out via our AHC Newsletter on the 5th of January 2021.
We would love to hear from you! The AHC and ATP1A3 Natural History Study Alternating Hemiplegia of Childhood (AHC) is an ultra-rare disease with an estimated one in a million occurrence. Patients suffer from a combination of disabling paroxysmal events (hemiplegic or dystonic attacks and, in some cases, epileptic seizures) and varying degrees of permanent neurologic features (ataxia, dystonia, neurocognitive delay, mental health problems). It is a disabling condition that impacts severely the quality of life of the affected individual and their families. About 75% of the patients have a mutation in the gene ATP1A3, in the others the cause of AHC is mostly unknown. Curative therapies are not as yet available and the medications used to alleviate symptoms like hemiplegia, dystonia, and seizures are helpful for some, but not all patients. As long-term follow-up studies are lacking, clinicians cannot provide families with an accurate prognosis. Driven by our inability to substantially help our growing cohort of afflicted patients, and with the support of AHCUK, the UK support group, we have set up the AHC and ATP1A3 natural history study led by Professor Helen Cross and Dr Katerina Vezyroglou at Great Ormond Street Hospital in London. The study aims to answer some of the unanswered questions about AHC, such as Why are different patients affected differently? Can MRI and EEG help us predict the severity of the disease? What causes AHC in patients without a ATP1A3 mutation? All patients (children and adults) with AHC or/and with a mutation in ATP1A3 are welcome to participate. If you have questions or are interested to find out more, please get in touch at k.vezyroglou@ucl.ac.uk While viewing the pdf attached…
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