Raising awareness of a rare disease

Raising awareness of a rare disease
Mitochondrial disease, first diagnosed in 1984, is still is among the most misdiagnosed diseases in the world, the 2013 Donegal Carer of the Year said.

Mitochondrial disease, first diagnosed in 1984, is still is among the most misdiagnosed diseases in the world, the 2013 Donegal Carer of the Year said.

Gina Grant of Letterkenny is all too aware of the genetic, chronic illness: Her 5-year-old son, Francis, has mitochondrial disease.

Mitochondrial disease causes debilitating physical, developmental and mental disabilities, with symptoms that include muscle weakness and pain; seizures; vision and/or hearing loss; gastrointestinal issues and learning disabilities. The disease is progressive and there is no cure.

There are four diagnosed cases of mitochondrial disease in County Donegal and more than 30 nationwide.

“It’s very hard to explain when nobody knows about it,” Gina said. Sept. 14th to 20th is Mitochondrial Disease Awareness Week, an attempt to raise awareness of this debilitating condition that can present at any age. Gina said it is difficult even for parents of a child with mitochondrial disease to talk to other parents of children with the disease.

“It’s such an emotional thing to talk about,” Gina said. “We all know what we have to face.” Gina and her husband, Eddie, have six children and one grandchild. Francis is their youngest child.

Mitochondria are the “powerhouse” of human cells, responsible for more than 90 per cent of the body’s energy and necessary to sustain life and support growth. Mitochondrial failure means that the body’s organs do not have enough energy to work.

Francis cannot communicate. He usually has daily seizures, which can include grand mal seizures. “In public it’s scary for everyone to see, but you normalise it to your own life,” Gina said.

But because Francis cannot communicate, there is a lot of what Gina called guesswork. Is he sleeping too much? If he can’t sleep, why is that?

If Gina is running a quick errand, she will often carry Francis into the shop because smaller premises cannot accommodate his wheelchair; Francis does not have control of his arms or legs. “If I’m running into a shop there is no facility for a big, disabled child,” she said.

Even a common cold can be very dangerous for a child with mitochondrial disease. All their energy is spent fighting the infection. Earlier this year Francis caught a cold and for six weeks he couldn’t eat and “couldn’t move anything but his arms because his body fought so hard to get rid of the illness,” Gina said.

If a child with mitochondrial disease catches a cold, “they might not recover. It’s that simple”, she said.

Those are the fears that parents of children with mitochondrial disease live with. Gina called mitochondrial disease, “the most heartbreaking diagnosis a parent can get for their children”.

“People here now, in Donegal, are walking around and their child has mitochondrial disease,” Gina said. “And the loneliness is heartbreaking at times.”

There are no respite services in Donegal for children with complex medical needs and no paediatric hospice services, she said. There is research being conducted into mitochondrial disease in the United States and the UK, but not in Ireland. “If anyone wants to help us, we definitely would love to set up a research fund,” Gina said.

Parents and other campaigners also want to raise awareness among the general public and within the medical profession of this serious but hard to diagnose disease.

“How do I explain to people that he can’t energize his body?” Gina said. “People might think, ‘Give him a vitamin,’ but it’s so beyond that.”

The Lily Foundation in the UK, which funds research to find a cure for mitochondrial disease and other metabolic disorders, has produced a video explaining the disease and its affect on the people of all ages who have it. The video can be viewed at the foundation’s web site, http://www.thelilyfoundation.org.uk.