Last year I wrote about our journey to cure AHC by comparing it with climbing the Everest.
Reaching Camp One
Continuing this analogy I would say that in 2013 we are about to reach Camp II although I feel we are not quite there yet, we have one more ladder to crawl over and then we will be safe in Camp II.
It is my hope we can get to Camp II early next year.
We have fought hard to continue our battle up the mountain and faced many obsticles, some we have won but others are proving to be more difficult to pass. We have made mistakes and we have sustained injurey but I hope the wound will heal when we reach Camp II so we can make preperations for the climb to Camp III.
To be able to reach Camp III we need to be focused, in very good physical and mental condition, have all the neccesary gear with us and the very best Sherpas to guide us.
There have been many new developments this year. AHC Federation of Europe was formed 28th of February on Rare Disease Day. The AHC International Alliance was formed early in 2013.
The first International AHC day was celebrated 18th of January but that day was chosen because it is the day that researchers at Duke University found the gene mutations that causes majority of AHC episodes which was the greatest discovery in AHC since it was characterized in 1971.
What stands out in regard to conferenses and meetings is the 2nd ATP1A3 Symposium in Rome and the first family meeting in China that was held in Bejing.
Fundraising has been and will be a top priority for the AHC organisations around the world. Most of the fundraising is through various sport events like marathons and walkathons but there are also auctions, concerts and other events. The largest donation this year was from an anonymous donor that gave 169.000 usd to the AHC foundation.
AHC awareness has been taken to new levels by videos and this year there were a few videos made like the International Video and the AHCF mission Video. Also parents are becoming more relaxed about sharing videos of their kids on Youtube and Facebook.
There are several research projects ongoing and to mention some there is a reserach in the Radboud University Nijmegen Medical Centre: Understanding the molecular consequences of the different mutations that have been reported in ATP1A3
In France there are 2 researches
Abnormal movements in AHC: The objective is to describe, study and maybe give some help as far as non paroxysmal (so not linked to attacks) abnormal movements are concerned for AHC patients, either children, or adults. 19 French patients have been included in this study.
Therapeutic trial: The objective is to decrease the frequency/severity of paroxysmal events (hemiplegic attacks, dystonic attacks, seizures) for AHC patients.
In Italy there is the AHC-MOME-IT project (Molecular Mechanisms in AHC), directed by Dr. Fiorella Gurrieri.
In the USA: Dr. Alfred George, Jr. and Dr. Kevin Ess at Vanderbilt University: Determining the functional and biochemical consequences of the three most common gene mutations causing AHC
The AHC Association of Iceland has been busy this last year with fundraising and attending conferenses and meetings. What stands out is the partnership we have with actor Ólafur Darri Ólafsson who is the protector of AHCAI and has given us so much of his time and energy.
We have had support from Air Traffic Controllers in Italy, UK and Iceland, we had the support of runners in the Reykjavik Marathon and from the public that pledged to our runners.
We also had support from From: Gunnar Gunnarsson and Barbara Björnsdóttir, Sigurrós Lilja Grétarsdóttir, Emilia Ragnarsdóttir, Teitur Jónasson who gave Sunna a wheelchair bicycle and also financially supported the association, Hotel Rangá, The Interline club, Dr. Afshin Fatemi, Eldfell, Einar Mikael (Magician), Björgvin Hólm Jóhannesson and Ágústa Fanney who made the International video a reality. Many others helped to make this year a very good year for the AHCAI. We thank you all so very much.
The AHCAI supported Dr. Koenderink, Dr Paolo Manunta, Alexander Chibalin and Caroline Dion, president of the Canadian AHC association, to attend the ATP1A3 Symposium in Rome.
AHC Foundation and AHC Association of Iceland awarded Dr. Koenderink of the Radboud University Nijmegen Medical Centre a €20,000 grant to understand the molecular consequences of the different mutations that have been reported in ATP1A3
This is a brief description of 2013 seen through the eyes of
Sigurður Hólmar Jóhannesson
President
AHC Association of Iceland