Welsh couple makes appeal for research into genetic disorder

October 17, 2009 by Shawn Douglas
Filed under: News, Pregnancy

The couple lost their baby to a genetic disorder called mitochondrial respiratory chain disease, a disease without a cure.

When Tamara Strangward and Martin Keane were planning the birth of their new child, they weren’t expecting any problems.

“She was born on time and we had no idea there was anything wrong,” said Tamara to Wales Online.

But their baby, Darcy Jane Keane, was born with a rare genetic condition called mitochondrial respiratory chain disease.

“On the day she was born she would not feed and had low blood sugar, then she started having seizures. She was in and out of hospital so much in her life.”

“She was a very floppy baby, with a curved spine, poor vision, she never gained weight as she kept vomiting and eventually her liver failed and so did her heart and lungs.”

A mitochondrial disease is a disorder of the mitochondria, the little cellular power plants that do most of the work providing energy to the cells of the body. In baby Darcy’s case, the organ systems of the body started failing as they didn’t get the energy they needed to function.

However, the cause of baby Darcy’s symptoms were not known for weeks, and the couple grew frustrated with the situation. When the baby was finally diagnosed, the couple turned to the internet to get more information.

“Information in the U.K. about mitochondrial disease was non-existent, and I had to search American websites to find more information,” said Tamara.

“They raise a lot more money to raise awareness over there, but nothing is done about it in this country. There’s no cure at the moment; you just watch people get worse and worse.”

The lack of research in the U.K. has led the couple to petition the government to fund research into the deadly condition. They hope that their action—combined with others who have suffered similar losses—will help future generations of people.

“This would help other people get the answers they need when they experience what we’ve been through. And more research could mean these diseases are diagnosed sooner.”

The couple’s petition can be found here: http://petitions.number10.gov.uk/mitochondrial/