I had hoped to finish a drawing I'm currently working on before I take off for vacation tomorrow morning. I didn't finish it :/ but will when I return.

For now here's a post from last week.

Last week I attended NDF's patient symposium which housed scientists and 40 patients from around the world, including Argentina, Korea (I met my first Korean patient!), Amsterdam, India, Japan, Italy, UK, Canada, Saudi Arabia, Iran, Israel, all across the US and beyond. GNEM (aka HIBM) is so rare and yet over the past few years crops of patients have been popping up all over the world - forming their own patient groups. It is indeed a global disease.

I have been looking to meet a Korean GNEM patient for some time. “Surely I can’t be the only Korean”, I thought. When I returned to Korea in 2010 I was scheduled to meet a GNEM patient but I was told due to fear she backed out. Since this condition is genetic and there are many families where all 2, 3, 4, 5 siblings are affected, there is a slim chance I could have a relative with GNEM. It saddened me to know they may be suffering alone, especially in a country whose only now attempting to deal with the stigmas of disability.

I met this Korean patient yesterday along with Dr. Jin-Hong Shin, a neuromuscular doctor from Pusan National University Yangsan Hospital. He and I had a great connection. He told me there are 50 Korean patients and they just began their own patient group. After learning about my life (and skydiving) he asked me to come visit Korea and speak with this new group. He wants me to share how fundraising works but moreso how to LIVE despite having GNEM. He does his best to push them to boldness but so many disabled Koreans are scared of being seen due to stigma and often live solitude lives.

To me this story was déjà vu, because in 2008 a newly formed Japanese group of GNE patients (PADM) asked me to visit Japan to discuss nonprofits and fundraising.

I told Dr. Shin I would be happy to meet them. America is my country but Korea will always be my birth country and if there is anything I can do to encourage them to live life to the fullest despite this ugly condition, then I’m elated to do so. I’m very proud of my Korean/Japanese heritage and I wish for them to succeed.

The GNEM world looks very different than when I began advocacy in 2007. I stumbled upon a scene in its infancy and though I met a few patients in 2007, something I was told would never happen, it often felt lonely. There weren’t as many GNEM representatives in the US at the time (I only knew of ARM) and handful of scientists/clinicians working on GNEM. I always believed global patient advocacy was the only way to treatment/cure, but in the beginning it was difficult to get patients to share their story. But today the patient advocacy landscape looks so much different, louder and impressive and I’m so proud of all of them. Patient advocacy while navigating the channels of constant loss and struggle is very taxing and draining. It’s not easy and it’s difficult being an “inspiration”. While I may have taken a break from the nonprofit organization scene ( For 8 years I volunteered as Creative Director and fundraiser for ARM; one of the nonprofits for my disease) and more of an independent advocate, I still do my own personal fundraisers, writing, art and sharing my story and hope all our efforts will eventually see the light.

No matter the language barriers, organization relations and the politics of treatment development, at the core are the patients who only care about stopping this progression. The common thread between us is this experience, an experience that has profoundly changed our present and future. Thanks to NDF for organizing the collection of patients and science.

My fellow GNEM patient and President of Japanese Patient group PADM, Yuriko, brought me a present from Japan. To my surprise my GNEM friend Mayuli just published her first children's book, "The Secret of Seven Doors". I believe this is the first GNE children's book...

Mayuli started out as an interior designer and then became a jewelry designer. In fact she made my wedding band. Her and her husband founded Geodesique jewelry in Paris and Kyoto. I traveled to Japan in 2008 to meet PADM and do a presentation on fundraising. I also was invited to speak at Kyoto Design college to give a talk on social design. Mayuli was one of the GNE patients and newly diagnosed. We became fast friends. My other GNEM Japanese patient friend Yoshio translated it so the book is both in Japanese and English. Her book aims to educate about hereditary disease.

"Diversity is created when the door changes and this is really important to our survival."

We really are just a bunch of mutated genes floating around, we aren't much different from each other.

There is a wonderful write up in the back explaining how genetic diseases work as well as homage to Japanese patient group, GNEM and their country's GNEM research scientist, Dr Nishino. Really proud of Mayuli...disability or disease does not mean defective. Many are accomplishing big things.

"According to geneticists, hereditary diseases are already incorporated in the human DNA. Some diseases might be incorporated to protect the continuity of human life. Errors in the DNA are necessary for diversity. If this is the case, genetic errors cannot be eradicated even with progress in medical science. Current medical science theorises that each human is born with seven genetic errors, on average. They range from mild to serious. We think that we don't have to know about hereditary diseases. Sometimes we only care if we, or someone we know, is affected."