Lansing mom bravely battles rare disease
May 10, 2013 1:56PM
The Perrault family: father, Jim; mother, Laura; daughters, Kaydence and Mackinsey. Laura has a rare and deadly disease known as MELAS. | Photo provided
Updated: June 13, 2013 5:54PM
“Motherhood: All love begins and ends there.”
— Robert Browning
Laura Perrault lives in Lansing, Ill. with her husband Jim and their two darling daughters, Kaydence, 6, and Mackinsey, 5. Jim is a firefighter and paramedic.
Laura, 32, used to dispense tender loving care for a living; she was a nurse. But Perrault can’t do that anymore. For the past five years, she’s the one in need of TLC. The young mother of two suffers from mitochondrial encephalomyopathy lactic acidosis, and stroke-like episodes. Not only does it take up half my word count, it is an extremely rare, cruel and deadly disease.
“I graduated from (Thornton Fractional South High School) here in Lansing,” she said. “Then I earned a bachelor of science degree in nursing at St. Xavier University in Chicago.
“I worked at (Advocate) Christ (Medical Center) in Oak Lawn in the neuro-trauma unit and then I worked at St. James, Olympia Fields, as an emergency room nurse.”
Were you working as a nurse when you found out that you had MELAS Syndrome?
“Yes, the doctor called my husband here at home with the results. Jim came to the hospital to tell me in person. I was diagnosed in December of 2008.”
One out of how many people get MELAS?
“It’s so rare, they don’t even have numbers. They used to think it was early aging. To this day, not much is known about the mitochondrial diseases.”
“When I was pregnant the second time, I started getting a lot of chest pains and palpitations. I’d be out of breath after just walking like three feet. The doctor thought it was because of the pregnancy. And, sure enough, after the birth, everything went back to normal.
“But within a couple months, it got progressively worse. I have a family history of the disease, so they tested it based off of that. It takes like four weeks to get results.”
Does your mother have the disease?
“She does. My mom was actually diagnosed after me. I had two aunts who passed away before we even knew I had the disease. Since my mom was diagnosed, I’ve had another aunt and a cousin diagnosed with MELAS.”
Is your cousin female?
“Yes, but a male can have it; he just can’t pass it on. It can only be passed on by the maternal gene. I have an uncle who is mentally handicapped; the family kind of thinks he might have it, but we’ve never had him tested.”
Kaydence and Mackinsey?
“We’ve never had them tested. Our geneticist recommended not to have them tested yet.”
Why is that?
“One, because it becomes a pre-existing condition, and two, because stress progresses the disease. So, if I knew my daughters had it, I’d be under more stress. I’d constantly worry because they could have seizures and I’d be up all night worrying if they were going to be OK.”
In these past five years, how has the disease affected you?
“I’ve had stroke-like episodes where I can’t move half my body or I slur my speech. Sometimes I have to wear a sling or use a cane or wheelchair. I have days when I can’t wake up; my husband has to wake me up so I can take my medicine. My lungs function at 43 percent. I have to sleep sitting up or I feel like I’m suffocating.”
MELAS usually affects the brain.
“I’m starting to get dementia — odd things will end up in the refrigerator. I get migraines. But, you have to take one day at a time. Every day you have to look for a positive outcome. Every day that I wake up is a good day.”
How long do people survive with MELAS?
“The last I read, the average survival rate was five to 10 years after diagnosis. But it’s different for each person. My biggest fear is that my husband will end up raising our daughters by himself. Jim helps tremendously with housework and the kids.”
Do Kaydence and Mackinsey understand what’s going on with Mom?
“I don’t think they fully understand it. They know Mommy has sick days and bad days. They wear necklaces that say, ‘I fight for my mom.’ A couple of my girlfriends have necklaces that say, ‘I fight for my BFF.’”
You’re very brave.
“There is always someone worse off than me. No matter how bad of a day I’m having, I’m not on a ventilator. I have my two arms and legs.”
Are strides being made to combat MELAS?
“They’re trying to start a clinical research where they’re going to be doing something with the nucleus of a fetus, but they’re having some issues with it.”
“They would have to take a healthy fetus and transplant it into the affected mother’s baby’s fetus so the baby would not have the mutated gene. Like I said, it’s sort of like an abortion issue right now.”
“I’ve made videos for Kaydence and Mackinsey’s future — their milestones.”
“For like their wedding days. There will be videos for them to watch.”
You mean videos of when you and Jim were married?
“No, for their weddings. Chances are I won’t be around for their weddings. In the videos, I say supportive things like: ‘I love you; I wish I could be there with you... .’ I also have inspirational ones that say things like: ‘Keep up your good grades in school.’ ‘Go to college.’ ‘Find a great job.’ ‘Don’t worry about boys, they’re not important until after you finish school.’
“You know, the same kind of things my mom told me.”
As our interview concluded, Jim Perrault approached me. With tears in his eyes, the big firefighter asked me if I could please include the website umdf.org so as to bring awareness regarding MELAS, the monster trying to steal away Kaydence and Mackinsey’s mommy.