I recently had the pleasure of meeting a friend from Japan who like me has HIBM. Yuriko travelled to the United States to visit the National Institutes of Health in Bethedsa, Maryland and attend a HIBM symposium held in San Francisco, California. Yuriko started noticing weakness associated with HIBM in her early twenties and is the only one in her family affected. She currently uses a wheel chair and is getting weaker as this disease progresses. She is the vice president for the Patients Association for Distal Myopathies or PADM in Japan. This is a patient organization which is very active in pursuing a treatment for HIBM. There are over 130 members in this association which is quite a high number for a rare disease. There are two well known researchers of HIBM (Dr. I. Nishino and Dr. I. Nonaka) on their Academic Advisory board.
It was very insightful to meet Yuriko and her husband. I find Yuriko brave to travel such a long distance, as in my experience with my disability a flight of only five hours is my limit. There are many barriers at the airports, getting on and off the plane for one to overcome when using a wheelchair. It was quite insightful for me to meet another patient with HIBM and observe how gracefully Yuriko is able to manage her disability.
Link for the PADM association.
http://enigata.com/index_e.html
There is a Japanese GNE myopathy registry which was set up in 2012.
http://www.remudy.jp/dmrv/index.html
A research abstract recently published on Japanese patients.
I find this information quite interesting from this abstract that there were able to profile 212 patients as with rare diseases it is quite difficult to get that many patients.. "Here, we report the mutation profile of the GNE gene in 212 Japanese GNE myopathy patients, which is the largest single-ethnic cohort for this ultra-orphan disease. We confirmed the clinical difference between mutation groups. However, we should note that the statistical summary cannot predict clinical course of every patient."
http://europepmc.org/abstract/MED/24027297
Just a personal note to my friends from far and near, I continue to participate in a clinical trial in the U.S and I am well.
It was very insightful to meet Yuriko and her husband. I find Yuriko brave to travel such a long distance, as in my experience with my disability a flight of only five hours is my limit. There are many barriers at the airports, getting on and off the plane for one to overcome when using a wheelchair. It was quite insightful for me to meet another patient with HIBM and observe how gracefully Yuriko is able to manage her disability.
Link for the PADM association.
http://enigata.com/index_e.html
There is a Japanese GNE myopathy registry which was set up in 2012.
http://www.remudy.jp/dmrv/index.html
A research abstract recently published on Japanese patients.
I find this information quite interesting from this abstract that there were able to profile 212 patients as with rare diseases it is quite difficult to get that many patients.. "Here, we report the mutation profile of the GNE gene in 212 Japanese GNE myopathy patients, which is the largest single-ethnic cohort for this ultra-orphan disease. We confirmed the clinical difference between mutation groups. However, we should note that the statistical summary cannot predict clinical course of every patient."
http://europepmc.org/abstract/MED/24027297
Just a personal note to my friends from far and near, I continue to participate in a clinical trial in the U.S and I am well.
