Jessica Fein is the proud mother of two sons and one daughter. Her adventure in parenthood, however, looks quite different than most. This is because her daughter Dalia has a rare, degenerative disease called myoclonic epilepsy with ragged red fibers, also known as MERRF.
When Jessica gave birth to her only daughter Dalia, everything at first seemed perfectly normal. As Dalia grew and reached the toddler stage, however, Jessica’s mom’s instincts kept telling her that something wasn’t right. She noticed that, as Dalia progressed through the toddler stage, her walking didn’t. Dalia never quite seemed sure-footed. For three years, she and her partner searched for a diagnosis. (1)
“We’d already been refused early intervention three times. “She’s on the lower end of average,” doctors told us. “Give her time and she’ll surely catch up,” they said. “She’ll be fine,” her pediatrician assured me, each of the 752 times I called. It must have been the 753rd time when he finally referred us to an audiologist,” Jessica wrote. “That referral led us to the geneticist, who ended up delivering the information that changed our lives.”
The geneticist informed them that Dalia’s blood work revealed a positive result for a genetic mutation associated with MERRF syndrome. He told them that it is an extremely rare mitochondrial disease. Extremely rare is nearly an understatement: The probability of having it is 2 in 1,000,000.
What Is MERRF Syndrome?
MERRF is a multisystem disorder characterized by a malfunction of the mitochondria in our cells. It is often followed by generalized epilepsy, ataxia, weakness, and dementia. It is a degenerative disease that has no cure.
“Mitochondria are the powerhouse of the body’s cells, responsible for converting protein into energy,” the geneticist explained to Jessica. “Every organ relies on mitochondria to function properly, so if your mitochondria aren’t working like they’re supposed to, your body can’t either.”
Symptoms usually first appear in early childhood or adolescence. The way it presents itself can be highly varied between individuals. The features of this illness include (2):