Along with being legally blind, Mathison also suffers from 75 percent hearing loss, extreme fatigue and has a feeding tube to enable her to swallow. Despite her limitations, she considers herself fortunate since KSS usually impacts patients before they reach 20 and death is not uncommon by age 40 due to organ system failures.
"Every day is different," Mathison said. "Every morning is different. The mitochondria supplies all the energy to the cells in your body and organs and when those fail your body starts to fail and that's what's happening to all of us that have this disease. And it's so difficult to diagnose because it mimics other diseases or illnesses.
"[My] fatigue has become worse and [I have] lots of leg pain. They had to put me on a pain patch and I use my cane more now when I walk. I need to use it all the time but when [my husband] Ralph's with me, like I said, he's my seeing eye dog. I use his arm. ... I think my biggest fear is that I will pass it on -- since it is a genetic disease, it's not an autoimmune -- that I will pass it on to my son and one grandson and their offspring. That is my biggest fear. I want it to stay with me."
Mathison's participation in the United Mitochondrial Disease Foundation has helped her tremendously, providing her with information about her syndrome through the Internet and annual conferences that feature about 550 families and physicians from all over the world. It was at one of these events that she learned about silicone slings, which she had inserted about nine years ago to prevent her eyelids from drooping.
"I encourage anyone that is diagnosed with a mitochondria disease to join the chapter because it helps so much to communicate with other people that have the disease. Even though it may be a different kind of disease it's still [helpful].
"Just the communication, to talk to someone with the disease, [is important]. There's [information] I've picked up. When I went to the seminars it's amazing what I leaned from people that had Kearns-Sayre or just other diseases, [like] Leigh disease or MELAS. It's just heartbreaking to see the children at the seminar that have the disease. They can't go in the seminar so the parents, one will go into the seminar and one will stay outside or in the room with the children. The majority of them can't even walk. They may be 4 or 5 or 6 years old and they're still in a stroller. That breaks my heart."
During Mitochondrial Disease Awareness Week, which ends Saturday, the UMDF is helping raise awareness by suggesting activities and trying to establish a nationwide week in honor of the disease. Georgia is one of nine states that already have permanent resolutions in place.
According to www.umdf.org, "Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. While exact numbers of children and adults suffering from mitochondrial diseases are hard to determine because so many people who suffer are frequently misdiagnosed, researchers believe the disease is approaching the frequency of childhood cancers. Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging. Still others aren't diagnosed until after death."
Because of this, the "awareness of mitochondrial diseases is critical," UMDF's CEO/Executive Director Charles A. Mohan Jr. said in an e-mail.
"It takes years for patients to get an actual diagnosis and that's because doctors aren't taught about mitochondrial diseases in medical school, so in many cases, they don't fully understand the disease, what the patient is telling them about symptoms or how to treat it," Mohan said. "So awareness within the medical community is very important. Mitochondrial dysfunction is at the core of many more well-known diseases such as Parkinson's, Alzheimer's, diabetes, autism spectrum disorders and even some cancers. So awareness within the medical research community may not only lead to a better diagnosis and treatment plan for our often fatal disease, but it could lead to a better understanding of the other diseases that I mention.
"And finally, we need to make people aware that mitochondrial diseases are not as rare as one may think. Research by Dr. Patrick Chinnery in the U.K. reveals that one in every 200 people may carry a mutation that could manifest into a mitochondrial disease in that person's lifetime. That's a fairly compelling reason as to why more should be learned about mitochondria and their role in human health."
For more information about the UMDF and mitochondrial disease, visit www.umdf.org.