Ryo Ito

An activist for people for whom “going out of the house is difficult”. Representative Director of the Congenital Myopathy Society. Born in 1991. He is involved with activism to counter intractable diseases on various frontss, including the foundation of the Kita-Kyushu City Regional Council on Measures against Intractable Diseases, the Kita-Kyushu City Advice Centre on Intractable Diseases, and the Kita-Kyushu Robocare Centre, as well as the construction and management of the website of Professor Sakurai’s lab at the Center for iPS Cell Research and Application, Kyoto University. Twitter：＠ryoit00

Congenital myopathy is a disease whereby a person is born with a genetic abnormality which impedes the successful regeneration of muscles, resulting in muscular weakness throughout the body and progressive weakening of respiratory and other functions as the person grows. There is said to be 1 person with congenital myopathy per 100,000 people, or around 1,000 in the entire country. There was previously said to be no treatment for genetic muscular diseases, but we have now entered an era in which treatments are being trialled. In the case of congenital myopathy, there have been advances in approaches to slow down the progression of symptoms, but it is still the case that no treatment leading to full recovery has yet been established. Congenital myopathy has not been correctly understood even among medical personnel: there have been many cases in which children were mistakenly diagnosed with developmental delays and given inappropriate treatments such as muscle strength training which served only to worsen their condition. 

My physical growth and development lagged behind those of the children around me from birth onwards, and so I was examined and diagnosed with congenital myopathy at age six. From when I was an elementary school student, I started to have difficulty breathing and headaches, so I consulted my primary doctor. I did so many times, but the diagnosis was that these were psychological issues or just my imagination, and I did not receive any particular treatment. This continued until I was around 17, when a doctor who had come as a trainee tested my breathing and finally discovered that I had respiratory failure, and I started to use a ventilator. Throughout that time, things felt hard and tough; but I did not know if things were this hard for everyone, or if I was self-pitying. I did not know who I could turn to for help, and so I just went on putting up with it and enduring. My breathing capacity is now apparently equivalent to that of someone aged over 95; I can only breathe 10% of the amount which ordinary people my age can. I can still walk, but breathing becomes difficult after I have walked about ten metres, so now I often use an electric wheelchair and respiratory aids, or a nose-mask ventilator at home.

One day, I thought about and reflected on the progress of my disease, and my experiences and suffering up to that point. I came to think that I did not want others to go through similar experiences, and that I wanted to do what I could; so at the age of 21, I launched the Congenital Myopathy Society and started taking action.

At the Society, we work to raise society’s awareness and understanding of congenital myopathy; to put in place equitable medical provision without regional disparities and improve the medical system; and to promote further research so that treatments can be developed at the earliest possible date. Moreover, we are also disseminating information about the need for respiratory care and rehabilitation and the importance of appropriate settings for ventilators, on the basis of my own experience. In addition, we are involved with projects which promise to lead to an improvement in the quality of life through the use of robots. For example, there are cyborg robots which are attached to the body and which are effective in improving walking ability; there are also avatar robots which can be operated from a person’s home or hospital room, allowing them to work remotely. These are leading to the application of health insurance to congenital myopathy, and to an expansion of the options for people to work in ways suited to their physical condition. 

I would also like us to work on the development of compact, portable ventilators that could easily be taken out and about, as well as research leading to a better understanding of the disease’s pathology and the development of definitive therapies and drugs, through regenerative medicine technologies and so on. It is my wish that we could move ahead with these things for the sake of those with congenital myopathy and the children who are yet to be born.

I have introduced my personal experiences of living with this disease here. I hope that they will serve as a useful reference for those working in medical and nursing care settings, as well as the families of those with the disease. I intend to continue with my activities, with “Never give up!” as my motto.