TRIMETHYLAMINURIA

For 14 years, Ellie James has been blighted by an incredibly rare and embarrassing genetic disorder.

The company director, 44, is one of only a handful of people with a condition that leaves her smelling of fish or rotten eggs.

But it took seven years to finally diagnose her after doctors dismissed her concerns – and even gave her humiliating lectures on personal hygiene and how to wash properly.

The disorder, known as trimethylaminuria, or fish-odour syndrome, has had a devastating impact on her life since it developed when she was 30.

Dubbed ‘smelly Ellie’ by bullies, she has been taunted and ridiculed by strangers. She is the butt of office jokes – receiving soap or perfume as secret Santa presents – and has even had bottles of body spray posted anonymously through her letter box.

Miss James, from Abingdon, Oxfordshire, said: ‘At first I didn't understand what was wrong. I’d always had impeccable hygiene. The smell was a complete mystery – I wondered if my cat had brought in a mouse and left it to rot.

‘But I slowly realised it was me when strangers began to stare at me while holding their noses. I heard people whispering about me in the office.

‘I would come home from work every night and cry. Soon people were showering me with gifts of perfume. At Christmas I’d get soap – it was completely humiliating.

‘Once a driver actually installed an air freshener on the bus I use, and a passenger said it was my fault. It was soul-destroying – it was a real struggle getting out of bed in the morning.’

At one point Miss James was having a bath five times a day. And in desperation she resorted to scrubbing her skin with kitchen detergent until it was red raw.

 It is a rare metabolic disorder that causes a defect in the normal production of the enzyme flavin containing monooxygenase 3 (FMO3). When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ability to properly convert trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO) through a process called N-oxygenation. Trimethylamine then builds up and is released in the person's sweat, urine, and breath, giving off a strong fishy odor or strong body odor.

After suffering with the condition for five years, Miss James plucked up the courage to visit her GP in 2005, but she was left feeling humiliated after being lectured on personal hygiene.

As a result, she did not return to see her doctor until a year later, when she was finally taken seriously.

Tests were carried out and she was eventually diagnosed in 2007. She said: ‘Although it was hard to swallow, I felt relief.’

Miss James was referred to an endocrinologist  who put her on antibiotics and a diet plan. She said: ‘I began to wash with a pH-balanced soap after I found out that washing excessively with normal soap made the smell even worse. There is no cure but making these changes helps.’

She added: ‘Now, when someone holds their nose, I take them aside and explain that I have a medical condition. I hope my story will help educate those who point fingers, and encourage other sufferers to find the strength to get help.’

Ways of reducing the fishy odor may include:

• Avoiding foods such as egg yolks, legumes, red meats, fish, beans and other foods that contain choline, carnitine, nitrogen, sulfur and lecithin
• Taking low doses of antibiotics such as neomycin and metronidazole in order to reduce the amount of bacteria in the gut
• Using slightly acidic detergent with a pH between 5.5 and 6.5

Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene. Carriers may have mild symptoms of trimethylaminuria or experience temporary episodes of fish-like body odor.