Pathway of pain
JOSH HELLMANN IS 14 - and he's already had nine strokes. Josh enjoys chanting rap around the house in Clear Water Bay and often beats his personal tutor at Monopoly. Josh can no longer see the gameboard: he's had to memorise it. As a result of the strokes, he's virtually blind. He's also partially deaf.
The past four years have been a nightmare for his mother, Christina. Josh, a slim child who was easily tired and prone to vomiting, was eventually diagnosed with myopathy encephalopathy lactic acidosis and stroke (Melas), a condition that can cause mental retardation, blindness, deafness, dementia and premature death. It's a rare disease into which there has been little research, but from the sparse statistics available, the mean age of death from Melas in children in Japan is 15 years and three months.
The disease affects the mitochondria, which are the energy factories in our bodies. They are membrane-enclosed organelle - a discrete structure of a cell with specialised functions - that convert food molecules into energy.
People with Melas are unable to convert energy in the cells. Melas attacks tend to occur in the cortex of the occipital lobe of the brain. Children with Melas usually have a higher level of lactate in their bodies, and when there's any excitement, the lactate levels rise - which can bring on repeated strokes. Twenty families in Hong Kong are known to be affected by it, but there could be more than 100 undiagnosed children.
'This is one of those unrecognised illnesses,' says Hans Schrader, executive medical director of the Matilda International Hospital. 'There are more children out there who are suffering from Melas.'
With scant information available, it's a hard disease for doctors to diagnose.
'The fact that Josh was 10 before he showed real symptoms is late,' says Hellmann. 'Usually, children with Melas as young as three years old will indicate signs of being easily tired, vomit easily and are mentally slower than their peers. But that didn't happen with him. He speaks two languages and is very intelligent.'
But Josh did show some signs. As a young child, he picked up every bug. He would become easily tired from exercise and his mother was alarmed when he couldn't complete a walk with other children and began to hyperventilate and vomit. During the next four years, Josh had a series of strokes - usually associated with festive occasions, such as birthdays and Christmas. He also suffered epileptic seizures. One early stroke led to transient blindness. The strokes - as is typical in Melas patients - became worse.
During last year's Lunar New Year festivities, he had flimmering, which is teichopsia or bright lights in the eyes. No migraine followed, but Josh had a huge, silent stroke as he slept. He woke up nearly blind and with limited movement.
During the past year, he has regained that movement through physiotherapy, but his sight hasn't returned. He also suffered post-traumatic stress.
Hellmann went on a crusade, to help her son and also help herself understand her family's ordeal. She's a healthy carrier of Melas, which is transmitted in the maternal line. Through her research, and the help of a neurologist in Switzerland, she tracked down Yasutoshi Koga, professor of the Department of Paediatrics and Child Health at the School of Medicine at Kurume University, in Japan.
Hellmann has brought him to Hong Kong for a two-day seminar, starting today. Co-organised with the Hong Kong Society of Medical Genetics and the Hong Kong Society of Inborn Errors of Metabolism, the seminar enables Koga to share his knowledge with local doctors.
The forum will also hear about the benefits Koga has found in administering L-arginine, an amino acid that's naturally produced in the kidneys and to a lesser extent in the liver, but which Melas patients lack. L-arginine is a simple and usually inexpensive amino acid supplement, often used by athletes to increase their energy levels because it produces glucose, but which isn't readily available in Hong Kong. Koga has used it to stabilise Melas patients after stroke-like episodes, and prevent them from reoccurring.
It's still being tested now, but could prove to be a breakthrough in the treatment of Melas, which is typically treated with a cocktail of vitamins to bolster patients - somewhat ineffectively - and using steroids, which Koga says is the wrong kind of treatment.
'There's no drug to cure the disorder, but I have innovated the one drug that can help with stroke-like episodes,' he says. 'L-arginine is to undergo clinical trials in April in Japan. To get approval from the Food and Drug Administration or any country you have to do clinical trials, which could take up to two years.'
If administered immediately after a stroke, L-arginine has been shown to reverse its effects, including temporary blindness. It's early days, but Koga has had 15 patients in recent years, and since administering L-arginine, 'there hasn't been a single death', he says.
Virginia Wong, from the Neurodevelopmental Paediatrics and Adolescent Medicine department at Queen Mary Hospital, says that Josh and another patient have shown strong signs of improvement after L-arginine treatment.
Maurice Leung, a specialist in paediatrics and the chairman of the Hong Kong Children's Heart Foundation, has learned about Melas, as Josh's paediatrician.
'Hong Kong is fairly accepting of medical innovations as long as you have a recognised body of proof,' he says. 'The use of this drug is not related to any difficulties in getting it approved, but due to a lack of knowledge about the disease.'
Had Hong Kong hospitals had a ready supply of L-arginine in the past - with doctors understanding the correct amounts to administer - Hellmann says Josh's blindness may not have been permanent.
Josh now takes L-arginine, sent to him by Koga, twice daily. Although he readily admits 'it tastes like s***', he hasn't had a stroke or epileptic seizure for the past year.
Signs of a killer
Aged 3 Sufferers can show signs of mental retardation, be slim to underweight, vomit easily, and be easily tired.
Aged 8 Sufferers often have a learning disorder. Their size can be stunted. They also suffer migraines and easily vomit.
Aged 12 Seizures, loss of motor skills; nausea and vomiting; migraine headaches and teichopsia, a transient sensation of bright, shimmering colours.
Aged 16 Teichopsia, migraine headaches, a weakness on one side of the body, hearing loss, stroke-related sight loss to one side, so partial vision, and joint contracture due to fibrosis in the tissue.
Aged 20 Mental retardation, transient blindness, deafness, dementia and death.
Yasutoshi Koga addresses Melas forums, at Queen Elizabeth Hospital tonight, 7pm- 8pm, and Caritas Medical Centre, tomorrow, 2pm-5pm. Christina Hellmann wants to set up a foundation in Hong Kong to help local doctors and families. Inquiries: tel: 9196 1001 or firstname.lastname@example.org