Facts, figures about mitochrondrial disease
According to the United Mitochondrial Disease Foundation, between 1,000 and 4,000 children are born with a mitochondrial disease. The exact number of people born with the disease is difficult to determine because the disease is often misdiagnosed.
Mito is a genetic disorder affecting the part of the cell that generates energy, the mitochondria, which can be likened to a battery. People with Mito essentially have drained cellular batteries. Parts of the body using the most energy — brain, muscles, heart and lungs — are the most affected.
Symptoms often manifest in different ways. Some people may experience seizures, heat and cold intolerance, poor muscle tone, developmental delays, digestive and feeding problems and frequent infections. The foundation’s website, www.umdf.org, notes a “red flag” for mitochondrial disease is when a child or adult has problems in three organ systems or when a “typical” disease presents unusual qualities.
Lately, Emilie Angle’s part-time job at The Next Chapter Bookstore in downtown Gainesville is keeping her very busy.
The used bookstore, which aims to create independence for young people with disabilities, is gearing up for its annual fundraiser.
Angle, 21, looked around the office filled with boxes and laughed at the number of books she and her co-workers will need to sort through. Her job is to sort the books, research an appropriate price by shopping online and mark the books with a price tag.
While she’s still got a lot of books to get to before the big sale, Angle doesn’t mind it because she loves shopping. And a love of shopping is just one of the many things she has in common with a lot of women her age.
Angle recently graduated from Lanier Technical College with an associate’s degree in accounting in June. Her job at the bookstore is her first.
“Don’t take this the wrong way,” Angle said dropping her voice as she leaned over the arm rest on her wheelchair. “I actually collect shot glasses.”
She laughed out loud and said she doesn’t collect the glasses to drink alcohol, but people she knows bring them to her from their vacations. She’s got quite a collection at home.
People bring the glasses to her, because Angle can’t travel as much as she might like to. The Johns Creek woman has a variant of Leighs Disease, a type of mitochondrial disease.
“People that know about mitochondrial disease generally refer to it as ‘Mito,’” Angle said.
Angle was 7 when symptoms of disease appeared. It took another eight years to find out why she was sick.
“At first we thought we were looking for some kind of an autoimmune disease,” Angle’s mother, Barbara Angle said.
About six years ago, Emilie Angle’s doctors considered a possible treatment for what they thought was an autoimmune disorder. She had a baseline immunology study and it was determined she did not have an autoimmune disorder. Then she had a muscle biopsy and her doctors realized she had a form of Mito.
After spending so many years looking for a diagnosis, the news was bittersweet.
“You get a diagnosis and you’re like “Yeah, I’ve got a diagnosis, but there’s no cure,’” Barbara Angle said. “So it’s nice to be able to give it a name because you know what you’re dealing with and you’ve got an organization and people like you. But there’s still no cure.”
According to the foundation, children affected by the disease may not survive beyond their teen years. Emilie Angle is happily counting down the days to her 22nd birthday in 10 weeks.
She said at the moment she’s not making big goals for herself because she doesn’t know what will happen to her health. A simple cold can devastate a person with Mito, because fighting off infections requires a lot of the body’s energy. To prevent her from getting sick, Emilie Angle is given an infusion of antibodies through a port for two days every month.
For the most part, Emilie Angle said she’s just focusing on bringing awareness to the disease and bringing people with Mito and other disabilities together.
Emilie Angle has created a Facebook page to help bring together people in their teens and 20s with Mito in the North Atlanta area. She calls the site “TNT DynaMITO.”
Barbara Angle said it’s been interesting to watch awareness increase throughout the community in the time since Emilie was first diagnosed.
“Since we found out she’s got Mito, we’ve seen the focus going from just purely awareness, getting doctors aware, getting people aware,” Barbara Angle said. “Because if there’s more awareness there’s more funding for research. But we’ve seen it go from just awareness to more of a fight for a cure now. There’s a lot of exciting stuff going on.”
Emilie Angle’s specific condition has created a movement disorder and a speech impediment. Because she has uncontrollable muscle spasms, Emilie Angle has a companion dog named Libby to help retrieve dropped items and open doors.
Libby also acts as an ice-breaker in social situations and opens up an opportunity to bring awareness to the disease.
Barbara Angle said sometimes people might want to talk to Emilie Angle about her wheelchair or her condition, but they don’t know how to start the conversation. Since getting Libby about a year and half ago, people walk up and ask if they can pet the dog.
Emilie Angle said people shouldn’t worry about asking questions because that’s exactly what she wants them to do.
“The main thing is that people generally do not like to ask about people’s illnesses,” Emilie Angle said. “But I want them to because I want to tell them about Mito.”