2012 is over and what a year it was….
Duke University and University Göttingen found the mutated gene that causes Alternating Hemiplegia of Childhood, ATP1A3, the biggest discovery in this rare disease since it was first characterized in 1971.
This would not have been possible unless there was funding to do the research. The big funding in the United States came from the Pepsi Refresh contest.
This year we also had new associations being founded, the Polish AHC Association, the Irish AHC Society has been formed, the Canadian AHC Association was founded and the Japanese AHC Association was founded. These associations will only strengthen us as a community. Hopefully we will have more associations joining our community this year.
There were family meetings this year in Italy, France, US, Germany, Denmark, UK, Japan, Spain and Iceland.
There was a symposium on ATP1A3 that was held by ENRAH and Duke University in Brussels.
What we now know is going to happen this year is that we will for the first time have an international AHC day.The AHC Alliance will be formed and the AHC Federation of Europe will be founded this year which will be very good for us as a community, we will be better qualified for awareness at European level.
It has been established that the discovery of the mutated gene was made on the 18th of January 2012. It has been proposed that 18th of January will be the international AHC day. A day for us to raise awareness for AHC and hopefully also to raise money for research.
After the discovery of the mutated gene we are at Base camp starting to climb the mountain. We have found the very best guides who have led us here but before we start to climb we need to be sure that we have all our gear in order. We need the food (money) so that our guides and we have the energy to climb each day. We need oxygen so that our brains can work to find the best solution to the problems that cross our path. We need ropes so that we can stick together when we climb through the blizzards and the fog.
By the end of 2013 we need to be at Camp one, to make sure this happens we have to work as hard as we have done these last years.
We can look forward to the view from the top and the end of our climb and the feeling that comes with the fact that we have made a significant difference for all those affected with Alternating Hemiplegia of Childhood and a positive difference to the world.
It will be spectacular………………
Happy new year;)
Sigurdur Hólmar Jóhannesson
AHC association of Iceland