This is an updated reposting from our previous site.
The opinions shared here are those of the writers and is not intended to be medical knowledge or even scientifically correct. The aim is to be provocative, objective , realistic but even sometimes controversial as sometimes real problems are only solved by using some of these stances. These posts may not even represent personal views but is primarily there to try and help patients affected by rare inherited metabolic disorders. It is my hope that this will become a focus to try and improve especially the knowledge of ultra rare disorders.
So starting about myself. I have worked in rare inherited metabolic disorders field for the last 20 years. I have been lucky to have met some wonderful patients in many parts of the world and especially the plight of those in the developing world is close to my heart. That is what lead to our motto ” Always seek knowledge”.
I am interested in patients but also in living life to the full. I enjoy the outdoors and find particular examples and inspiration from birds and other elements of nature and try to capture them digitally where possible.
I also belief that using digital information and technology with all its limitations is still the best way to try and empower those affected by rare disorders. In a democratic world it is difficult to be heard when you represent the perspective of the minority groups.
The Robin is the national bird of Britain and the example above was photographed by me in Wales whilst it was sitting on a fence. The Robin is the commonest bird in Western Europe and you can say it represents the general population. However about a year ago a grey Robin was spotted in the UK and this was thought to be due to a mutation. In the same way rare inherited disorders are caused by mutations which can change the appearance of patients or just the biochemical processes leading to disease. So you can go out and try and spot the grey Robin or read more about it and determine where is the best chance of seeing it. However you need to know it exits before you would look for it leading to the old adage :” You can only find what you are looking for”. Hopefully we can raise the awareness of rare inherited metabolic disorders so that greater awareness leads to better diagnosis and care.