Tag: ahc support

Hi, I’m Lyndsey, and this is my blog about my family’s life with AHC! I thought I’d use this first post to introduce myself, so here goes. I’m a teacher…

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.

AHC UK Research Newsletter 18th 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…

Thank you to everyone who joined in this helpful Question & Answer session in November of last year with Dr. Katerina Vezyroglou on her research work. As promised, we have included the link to the recorded zoom session for those of you who were unable to attend the event.    We hope you find this helpful and as in the session,  Dr. Vezyrouglou is very happy to hear from anyone who would like to ask  any more questions. All questions are welcome.    As discussed in the zoom chat, this project also feeds into the OBSERV AHC natural history study involving many international centers.  

The Autumn 2020 edition of the Rare Revolution Magazine was entirely dedicated to rare and complex epilepsies of which Alternating Hemiplegia of Childhood was highlighted. The article was written by…

A REFERENCE GUIDE FOR MEDICAL PROFESSIONALS We would like to thank our sister AHC Charity organisation (AHCF) in the United States for this attached document for parents and medical professionals.…

Hello Friends Attaching our November 2020 Research Newsletter – Our AHC researchers continue to work across the world to try and make progress in understanding this complex condition. There are…