AHC.is

Í dag er alþjóðlegur AHC dagur haldin hátíðlegur um allan heim. Alternating Hemiplegia of Childhood (AHC) er afar sjaldgæfur taugasjúkdómur sem fyrst var skrifað um árið 1971 af Verret & Steele.

Árið 1993 var aðeins vitað um 30 tilfelli af AHC í heiminum en í dag hafa greinst um 850 tilfelli og sú tala vex hratt.
Þann 18 janúar árið 2012 fundu vísindamenn í Duke Háskólanum stökkbreytta genið, ATP1A3, sem veldur sjúkdómnum og eftir þá uppgötvun varð auðveldara að greina AHC sjúklinga.

AHC er talinn vera flóknasti taugasjúkdómur sem vitað er um og er þess vegna mjög merkilegur sjúkdómur til þess að rannsaka vegna þess að þeir sem hafa sjúkdóminn eru með einkenni allra annara taugasjúkdóma. Af þessum orsökum eru miklar líkur á því að rannsóknir á AHC muni hjálpa til við að finna lausn á mörgum öðrum algengari sjúkdómum eins og til dæmis Parkinsons.

Það sem heldur aftur af rannsóknum er skortur á fjármagni en lyfjafyrirtæki hafa ekki viljað taka þátt í rannsóknum hingað til vegna þess að markhópur á lyfi fyrir AHC er fámennur og ólíklegt að lyfið muni skila hagnaði.
Í grunninn veldur AHC lömunarköstum sem geta varað frá mínútum uppí vikur. Flestir AHC sjúklingar þjást líka af Dystonia krampaköstum í útlimum auk þess að vera þroskaskertir, á einhverfurófi, með athyglisbrest, með nystagmus (ósjálfráðar aughreyfingar), eiga erfitt með samhæfingu, gang og fínhreyfingar og auk þess eru um 70% AHC sjúklinga einnig greindir með flogaveiki.

Eins og sést á þessari upptalningu þurfa AHC sjúklinga stöðuga umönnun. Köstin eru framkölluð af ýmiskonar áreiti svo sem hávaða, hitabreytingum, snertingu við vatn og ýmislegu öðru.

Í tilefni alþjóðlega AHC dagsins opna AHC Samtökin á Íslandi nýja heimasíðu www.humantimebombs.com þar sem hægt er að sjá heimildarmyndina Human Timebombs eða Mennskar Tímasprengjur í fullri lengd og á 10 tungumálum.

Human Timebombs er heimildarmynd eftir Ágústu Fanney Snorradóttir og var hún frumsýnd á RUV í júni 2016. Myndin hefur verið sýnd víða um heim og hefur henni allsstaðar verið gríðarlega vel tekið. Heimildarmyndin útskýrir AHC á einfaldan hátt og eru viðtöl við foreldra og sérfræðinga um AHC. Ég hvet þig til þess að horfa á myndina og styðja við AHC hetjurnar okkar.

Sigurður Hólmar Jóhannesson
Formaður AHC samtakana á Íslandi
Forseti AHC sambands Evrópu

Looking back at 2016……

Looking back at 2016 I can honestly say it was a very busy year for AHC.
A couple of years ago I took together all the fundraising events around the world at the end of the year and I could easilly keep track of them all because they were not too many. This year there is no way I can do this because so many people are raising funds and so many events are ongoing.
This is of course wonderful to see and should result in more funding towards basic research on AHC which again takes us closed to our goal to find a treatment for this rare and complex disease.

Are we closer to our goal than we were this time last year?
The short answer is YES but perhaps not as close as we would have hoped for. Research was delayed because the labs all had the same problem. The mutated mice were not able to breed and they were dying prematurely which just shows us how complex and serious this gene mutation is. The labs seem to have overcome this obsticle and now have enough mice to start experimenting with potential molicules.
This is where things get interesting for the families because if the reserachers find a possible molicule that works with the mice then the families will have to participate in a drug trial soon. If the trial is successful then we might have a treatment option in a few years.

So where are we in regards to timeframe?
I would say the most positive outcome if there is already a molicule available that would work to restore the function of the sodium/potassium pump is that we could have a drug for AHC within 3-4 years.
If there is no available molicule and we have to create a new one then we would be talking about a timeframe of 10-15 years before we have a drug on the marked, this is given we get enough funding to produce it.

 

What is going on in 2017?
Its exciting to reveal that on International AHC day 18th of January 2017 we will launch a new website dedicated to the documentary Human Timebombs
The full film will be available in 10 languages on the site www.humantimebombs.com
We are going to need YOUR help in making to announcement heard all over the world and to do that we created a Thunderclap which we hope you can participate in and become a SUPPORTER. For more information click this link http://thndr.me/i14sej

It is our hope that by making Human Timebombs public the film will help families all over the world to get more understanding from people in their community. We also hope that more children will get diagnosis because of the film and that we get more doctors and reserachers interested in helping the AHC community find a treatment for this important disorder.

I wish you a happy new year

Sigurdur Holmar Johannesson

AHC Samtökin óskar þér gleðilegra Jóla með þökkum fyrir árið sem er að líða.

Við óskum þess að þér og þínum farnist vel á komandi ári. 

Sue Frecklington from  Skellingthorpe, Lincolnshire,England, supported the AHC Association of Iceland by 450 GBP today.

Sue has been raising sponsorship for AHC association of Iceland this year through her 516 challenge. She decided to run or bicycle 10 miles a week all year and have people in the community sponsor her initiative.

We thank her from the bottom of our hearts

Jólamarkaður Flataskóla var haldinn í morgun á munum nemendum sem þeir höfðu búið til á jólaþemadögunum 7. og 8. desember s.l. Allmargir lögðu leið sína til okkar í morgun til að hjálpa okkur að styrkja gott málefni.

Nemendur í sjöunda bekk sáu um alla afgreiðslu og auk þess var boðið upp á kaffi og smákökur. Upphæðin sem safnaðist var tæplega 350 þúsund krónur og fer hún að þessu sinni til styrktar AHC samtökunum á Íslandi. AHC er flókinn taugasjúkdómur, frekar sjaldgæfur en ein stúlka hefur greinst með hann á Íslandi.

Tilgangur samtakanna hér á landi er að fræða almenning og heilbrigðisstarfsfólk um sjúkdóminn AHC (Alternating Hemiplegia of Childhood) og styrkja rannsóknir á honum.

Renowned neurological expert emeritus professor Brian Neville has died peacefully in his sleep at the age of 77, after a long-term illness.

Professor Neville was a pioneer in paediatric neurology and was committed to finding the causes of epilepsy in childhood, striving for early detection and treatment.

He was instrumental in the launching buccal midazolam, an emergency treatment for continuing seizures, and was the inaugural Prince of Wales’s Chair of Childhood Epilepsy at UCL Institute of Child Health at Great Ormond Street in 2004. He also initiated a brain surgery programme for childhood epilepsy in 1990.

The Neville Childhood Epilepsy Centre at Young Epilepsy in Lingfield, Surrey, was named after Professor Neville.

Man of vision
Professor Ley Sander, medical director at Epilepsy Society, said: ‘The world of epilepsy owes much to Brian. He was a man of vision who not only understood the impact that epilepsy can have on young children, but dedicated his life to improving diagnosis and treatments for them.

‘He worked tirelessly with physicians, social workers, teachers and, of course, the children themselves to optimise seizure control and minimise the disruption that epilepsy can cause in the brain of developing children. His epilepsy surgery programme has been life changing for many young people.’

Carol Long, chief executive at Young Epilepsy, said, ‘Young Epilepsy would not be the organisation it is now if it hadn’t been for Brian’s vision in recognising the need for a progressive approach to supporting children and young people with epilepsy. We’re indebted to him and his legacy will continue to be apparent for generations to come.’

Transforming lives

Chief executive at Epilepsy Society, Clare Pelham said: ‘Brian Neville was an inspiration. His pioneering work has done much to transform the lives of young people with epilepsy and their families. Our thoughts are with his family and friends at this very sad time, and also with our friends at Young Epilepsy.’

Professor Brian Neville was one of the first doctors to work with AHC families in the UK and all over the world.

The Global Gathering for Rare Diseases was held at the United Nations in New York, NY on the 11.11.16

under the patronage of Queen Silvia of Sweden

 

The making of Human Timebombs

 

My name is Sigurdur Holmar Johannesson, I am father to a 10 year old girl, Sunna Valdis, who is diagnosed with Alternating Hemiplegia of Childhood (AHC).

I work as an air traffic controller and my wife works as a flight attendant. We live in Reykjavik, Iceland, and are blessed with two children, Viktor is 17 and Sunna is 10.

Viktor is a perfectly healthy young man, athletic, gets good grades and has a bright future ahead of him.

Sunna is amazingly happy but her condition is extremely debilitating. She has terrible episodes almost every day, sometimes life threatening episodes.

Our family formed the AHC Association of Iceland in 2009 and my wife and I have been raising awareness for AHC and rare disorders both domestic and internationally ever since.

Alternating Hemiplegia of Childhood, which is the most complex neurological disorder known to man, has the prevalence of 1/1.000.000.

AHC incorporates all the symptoms of all other neurological diseases and more.

AHC causes episodes of spasms, paralysis, seizures, and excruciating pain. AHC patients are also cognitively late developed and many are touched with ADHD and autism.

 

AHC has so many different elements and the symptoms are always changing so it is very difficult to explain to another person what goes on in our home every day.

In 2012 when Sunna was 6 years old we decided that in order to explain our situation we had to make a short film about Sunna and her condition in Icelandic and English so family, friends and doctors understood her condition and the complexity of it.

We were lucky enough to meet Agusta Fanney who was at that time studying filmmaking in California and she made the video for us

 

We uploaded the video´s to Youtube but expected nothing. What happened was nothing short of fantastic because we started to get messages saying that children where getting diagnosed because to the video and that other families where getting more understanding from their family and friends, all because if this video.

This positive response made us want to help more. Agusta Fanney had at this time gotten to know Sunna so now it was personal for her, she was now passionate about helping the cause and to expedite research for AHC.

I also got very interested in making films because I saw the effect it was having and realized that the phrase “a picture says more than a thousand words” was indeed very true. Finding funds to raise awareness and support research was also easier when people understood the disease.

We then made an international short video with the help of AHC families from both sides of the Atlantic. That video also got great response and helped many families all over the world.

At that time we decided to make a longer video 10-15 minutes that would explain the disease in more detail and started to work on it and to get funding for the film. The funding proved to be quite difficult but in the end it somehow came together but a lot of people either volunteered their work or gave a huge discount. When the project was rolling and we saw that the information we had would possibly be life changing to hundred or even thousands of families and we decided that we would not settle for anything less than a professional grade documentary that would be at least 35 minutes. The film´s potential also rose when internationally renowned artists like Ólafur Arnalds and Of Monsters and Men offered their music to the film. Our multitalented graphic designer Sigurgeir Arinbjarnarson also surprised us by composing two songs that were needed to escalate the feelings of emotional scenes. Iceland´s best-known actor Ólafur Darri Ólafsson volunteered to narrate a part of the film. Ólafur Darri is a personal friend of the family and has helped us immensely throughout the years.

 

The making of Human Timebombs was a true roller-coaster ride, a lot of sleepless nights and 2.5 years of work. By the end of filming in the US and Europe and collecting video´s from families all over the globe we had about 70 interviews and 50 hours of material to work with. To cut the film down to a 35-minute documentary that captured everything we needed to convey was many months of work and a lot of very good film ended up on the director’s floor. We realized this was a waste of precious information so we founded the AHC International Media and opened the website www.ahcim.com where everything we filmed will be open to the public and also we will continue to produce interviews that are of interest to AHC and related diseases.

Human Timebombs was finished in August 2015 but the name of the documentary arrives from the fact that AHC kids can have an episode or a seizure at any given moment without warning and are therefore sometimes referred to by some parents as ticking timebombs.

We made a 5 minute version of Human Timebombs that was sent to a short film festival hosted by the Annual Academy of Neurologist in Vancouver this year and it won the First prize and also the Fan Favorite prize. Agusta Fanney also received an award for Human Timebombs at the Accolade Global Film Competition last year in the category of woman filmmakers.

 

The film was first aired in public television in June this year by the Icelandic National Broadcasting Service and will be available in Icelandair´s onboard entertainment system from November 1^st. Human Timebombs has been translated to10 languages so far.

Human Timebombs has been distributed as a teaching tool to many hospitals in Europe and the US. Hospitals such as Duke University hospital, Vanderbilt, University hospital of Utah, Northwestern, Nemours Children hospital in Orlando, Massachusetts General Hospital and more. We intend to continue to distribute the film to teaching hospitals, if you are interested in receiving a copy for your hospital please contact ahc@ahc.is

AHC is still not known by majority of neurologists in the world and only a very small percentage if the general public is familiar with rare diseases in general and only a fraction of them know AHC so it´s fair to say that the disease needs a voice and we hope that Human Timebombs will be that voice. We would also like to help researchers and the public to realize that by finding a treatment for AHC we could very possibly find a treatment for other much more common diseases and help millions of people all over the world improve their quality of life.

If you would like to donate or to help the cause please contact your nearest AHC association www.ahcia.org

The article from Rare Disease Report

Links:

https://www.youtube.com/watch?v=aMzG0IDKRyg

https://www.youtube.com/watch?v=FxCryStG2n0

https://www.youtube.com/watch?v=se6i5tD4uow

https://www.youtube.com/watch?v=jmdgsfddZKA

 

 

 

 

 

 

 

 

 

 

http://www.raredr.com/news/the-making-of-human-timebombs

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