Man with rare disease reaches out to other sufferers

KITA-KYUSHU--A 21-year-old Kyushu man suffering from a rare disease wants other patients to join him in his fight against the illness.

Ryo Ito, a resident of Yahata-Nishi Ward, launched the Kyushu association of patients with congenital myopathy, hoping to bring together other sufferers of the disease. The little-understood condition causes weakened muscles, and many patients have difficulty breathing, eating and, in some cases, standing.

Ito was 6 years old when he was diagnosed with congenital myopathy, and though doctors were able to put a name to his condition, he and his family were in the dark about how to manage the disease.

His mother, Hatsue, now 42, recalled her sense of helplessness at the time.

"There were no medical specialists for congenital myopathy or patients with the same disease around us," she said, "so I had no way to know what was good or bad for my son."

Growing up, Ito couldn't run fast, often tripped and had half the lung capacity of other children. His condition took a sharp turn for worse after he went skiing on a field trip in his second year of high school. Complaining of a severe headache, he developed chronic respiratory failure.

It was only during a talk with another patient’s family in Tokyo later that Hatsue learned that those suffering from the disease should not ski because it is too physically demanding.

Hatsue regrets that she wasn’t able to meet with other patients and specialists sooner. She said that they had never even met other patients with the disease in Kyushu.

Ito hopes his organization will help other families who are struggling with the disease on their own.

"I would like patients with the disease who are agonizing alone to contact me," he said. Ito, who now uses a wheelchair when he has to travel a long distance and sleeps using an artificial respirator at night, started the organization and its website before turning 21 in May.

One of the main goals of his organization is to raise public awareness of the rare disease and encourage further research.

Masashi Aoki, specialist of congenital myopathy and professor of neurology at Tohoku University School of Medicine, acknowledged that until now little has been known about congenital myopathy, although it is similar to muscular dystrophy in some aspects.

"While research on muscular dystrophy is advanced, we don't even know how many people are suffering from congenital myopathy in Japan," Aoki said.

The disease is thought to strike one person in every 100,000, and some die less than a year after they are born.

Congenital myopathy is not on the list of state-designated intractable diseases. Without this designation, patients have no access to treatment at a dedicated research facility or coverage for health-care costs. It is currently designated as a pediatric special chronic disease, meaning subsidies are only available for those under 18.

Change is on the horizon, however, and support for Ito's cause is slowly spreading.

Takeshi Nomura, 31, a former company employee and an acquaintance of Hatsue, embarked on a 1,200-kilometer run between Tokyo and Kita-Kyushu to raise public awareness of the disease. Nomura finished the run on July 7.

The government is slowly moving to extend assistance to patients.

Starting from the current fiscal year, a team of researchers, led by Aoki, launched a study of congenital myopathy as part of a state-funded project to tackle intractable diseases.

The study is expected to provide a more accurate estimate of the number of people suffering from the disease and to identify the problems diagnosing it.

Ito said that he was relieved to learn of the research.

"It feels like the project is finally taking off," Ito said. "I don't mind researchers studying me to find out anything they can about the disease."

The association also aims to collect signatures to urge the government to designate congenital myopathy as an intractable disease.