According to a story from the Oxford Mail, Stuart and Kira Connor were devastated when their daughter Grace, who was only three years old, suddenly passed away because of mitochondrial disease. After this tragedy, the parents moved quickly to make sure that their five-month-old son Elliot did not have the deadly disease. Kira became worried about Grace in March. Grace’s initial illness appeared with vomiting and a repetitive eye flick to the left. Kira said “The illness was odd in itself, as she made no effort to sit up or even stop it as a three-year-old child typically will.”
Mitochondrial disease includes any disorder that affects the ability of the mitochondria to function properly. Mitochondria are an essential cellular organelle that is responsible for the generation of energy. Mitochondrial disease is normally caused by genetic mutations that can affect the nuclear DNA or the mitochondrial DNA. Dysfunction of the mitochondria is implicated in a variety of other disorders and diseases. Symptoms of mitochondrial disease are broad and systemic, and can vary greatly. They include dementia, breathing problems, digestive system disorders, disease of the liver, heart, and kidneys, problems with vision and hearing, poor growth, poor muscle coordination, and muscle weakness. Treatment options for mitochondrial disease are very limited, with current research being focused on gene therapy. To learn more about mitochondrial disease, click here.
For Grace, her the symptoms of her mitochondrial disease were unusual and severe; an MRI revealed that the three-year-old had experienced a stroke. Kira says that there was little about her daughter’s early development to suggest that there was anything wrong, although she did begin walking later than most, and did not seem to have the best coordination. Doctors were able to stabilize Grace enough to start preparing to send her back home, but she suddenly suffered an additional stroke. The eye flick returned, this time to the right, accompanied by a full head flick. The vomiting also returned just before Grace required ventilation.
Grace was put on a ventilator and into a medically induced coma. It was April 20th when doctors recognized that she had mitochondrial disease. At that point, the disorder had inflicted enough harm that the doctors felt there was nothing they could do.
Unfortunately, a more rapid diagnosis wouldn’t have been able to make a difference for Grace, because her disease was too advanced and too aggressive.
Her mother Kira says, “We were lucky in a sense, in the fact that we did not have three years of waiting for this to happen, because, frankly, we didn’t know. She led the life of a carefree child with no limitations, because we had no need to wrap her in cotton wool, and we know that whilst they were battling for a diagnosis, they were treating everything that it could have possibly been.”
Kira also stresses that the care and compassion the family received at the John Radcliffe was above and beyond the call of duty. She shares that she has so much respect for everyone who works there.
“They wanted as much as we did for her to have a treatable illness.”
In memory of her, the Connor family has organized a fundraising drive for The Lily Foundation, which is dedicated to supporting mitochondrial disease research.
If you would like to donate, click here. You can also check out Grace’s Facebook page where the family shares fundraising and research updates here.
