An inheritance of pain and deep kinship

A paediatrician by training, Kathy Rivers knew that people thought she was somehow responsible for the illnesses of her three children.

Even so, she was taken aback when a paediatric neurologist at Johns Hopkins accused her of exaggerating, or fabricating, their symptoms, which included migraines, seizures, vertigo, digestive problems and chronic infections.

Rivers decided she needed to stop dragging her kids to doctors and focus on coping with what was.

After Rivers told the children's paediatrician, Marcia Schwartz of Columbia, Maryland, about the incident, Schwartz suggested she go to one more doctor.

Rivers agreed to seeing Carol Greene, director of the paediatric genetics clinic at the University of Maryland Medical Centre.

It was Greene who played a pivotal role that led to a definitive diagnosis for Emily, now 16, the most ill of Rivers' children.

Baffling condition

She revealed a likely cause for the baffling medical problems that affected 9-year-old John and his older sister, who has milder symptoms.

The diagnosis raised questions in Rivers's mind about some of her own problems that had originated in childhood.

Rivers gave birth to Emily in 1992. At that time, her first child, then 3, was experiencing migraines, hyperactivity and strange vomiting episodes that left her disoriented.

But she was developmentally advanced and her difficulties paled in comparison to Emily's, which consumed her attention.

Emily was born with a disorder called hydrops fetalis, which involves a build-up of fluid around vital organs, including the heart.

Emily was subsequently found to have cerebral palsy, brain damage and multiple organ dysfunction.

But Emily also developed uncontrollable seizures, endured repeated infections and hospitalisations and had to be fitted with a feeding tube.

She cannot sit up, does not speak and requires constant care.

When John was born in 1999, he was found to have digestive problems, epilepsy and poor muscle tone and was so irritable he screamed for hours.

Soon he was diagnosed with autism.

“I went through a period of grief,'' recalled Rivers, who gave up a busy paediatrics practice because her children needed her more.

Quietly dangerous

By 2003, Rivers said, a doctor treating one of the children suggested that the underlying cause of their illnesses could be genetic.

One potential culprit was a form of mitochondrial disease, a group of genetic disorders that often go undiagnosed or misdiagnosed for years.

These, which can affect any part of the body, can range from mild to fatal and are caused by defects in the DNA that trigger an “energy crisis'', impairing the body's ability to burn food and oxygen to generate energy.

An estimated 4,000 children a year are born in the US with some form of mitochondrial disease, according to the Cleveland Clinic.

There is no cure but the disorder can be treated, usually by taking an individually tailored regime of vitamins and enzymes called a “mito cocktail''.

When Rivers consulted Greene, it turned out Emily had mitochondrial disease.

Meanwhile, John, Rivers and her oldest child were started on a mito cocktail, which, Rivers said, has significantly reduced their symptoms.