On good days like today, six-year-old Gwendolyn Lorimier wears a charming smile and makes sarcastic jokes that reveal a wit beyond her years. On bad days, when fatigue and pain take hold of her, her strong voice quiets as she trades in her pink dress for a drab hospital gown.
Lorimier, who lives in Needham, has Mitochondrial Disease, for which there is no cure or treatment. For most of her life, her mothers, both music teachers, single-handedly managed their daughter's complex medical care. Doctors repeatedly denied the presence of any serious problem, handling each ICU crisis without a clear diagnosis.
During the first three years of Gwen's life, she spent more than half of her days in the hospital, not knowing why she was there. An insidious aspect of this disease is its virtual diagnostic invisibility, often sending its targets adrift in the medical world without an understanding of what's wrong.
At age four, Lorimier was officially diagnosed with Mitochondrial Disease. Caused by mutations in the mitochondrial DNA within cells, the illness can present itself in hundreds of forms, from neurological problems to complete autonomic dysfunction.
For Lorimier, the illness has led to chronic intestinal pseudo-obstruction: Her intestines lack the power to push food through her digestive tract.
Dr. Mark Korson, a metabolic specialist at Tufts New England Medical Center, was the first to suspect that Lorimier had Mitochondrial Disease, when she was just eighteen months old. But it was not for another three years that Lorimier was given the official diagnosis, when her condition was stable enough to undergo a skeletal muscle biopsy.
"When we finally, finally got a diagnosis, the piece of paper came in the mail," Gwen's mother Kim said with lingering disbelief. "That would be like getting a diagnosis for leukemia by mail and having them say, ‘Okay, take this to your pediatrician and have him manage your leukemia.'"
Last year, Gwen spent five consecutive months in the hospital battling a severe secondary fungal infection. She was admitted to Massachusetts General Hospital (MGH) in February, on the night before her sixth birthday, and couldn't go home until the first days of summer.
Kim remembers trying to offer comforting words as her daughter's body shook and her temperature rose to 104.
At six, Lorimier already recognizes the importance of letting her health run its course, but she's almost never allowed the disease to dictate her spirit. "It's okay, mommy," she said of having to cancel her birthday party. "I know that we'll do it some other time. Right now my body needs to be here in the hospital."
In many ways, Lorimier's is a case in which science and medicine have, thus far, fallen short. At 14 months, she went on total parenteral nutrition (TPN), which employs an intravenous feeding tube. At the time, doctors said that her bowel motility would resume on its own after a few weeks of rest.
But in five weeks — and five years for that matter — nothing has changed. Today, Lorimier's body still can't digest solid foods, and she's never come off the TPN treatment that costs nearly $1,000 a day and puts her liver function in jeopardy.
Lorimier is happiest when her stomach can handle a third of a banana, a slice of an apple or a potato softened in water. She loves nothing more than to eat: the texture, the taste and, most importantly, the sociability of food that helps her to feel "normal" with family and friends.
But since her hospitalization last winter, the pleasures of eating were lost to the progression of her disease.
"A few weeks ago, we began to introduce food by mouth again. But sadly, it was a short-lived success," Kim said. "Gwen began to feel worse and worse. She needed more anti-nausea meds, more venting from her [gastric feeding tube], and most of all she was just miserable: sad, angry, irritable, often inconsolable. It was terrible to watch, especially knowing how much she loves to eat."
The only solution was to take away food altogether. Within 24 hours, Gwen had returned to her "calm, easygoing self."
Despite her daughter's suffering, Kim's appreciation outweighs her frustrations with medicine.
"If it weren't for the advocacy that we do for Gwen and living in Massachusetts with access to the doctors in Boston, there's no way Gwen would be here today. She has successfully come out of so many ICU crises, and it's all because of the work that we do together," she said.
Like her mother, Gwen takes nothing for granted. Last week she went on an apple picking field trip with her fellow first graders and came home with a splitting headache.
But for Gwen, the before and after are insignificant.
"It was so, so, so much fun!" she said with a smile.
Sometimes Kim wishes she could hand out the lessons of Gwen's disease on a silver platter.
"Going to the beach requires an entire day of preparation: scheduling her meds so that she'll be unhooked from her IV for two hours, taping up her chest, having to do a painful dressing change afterwards, carrying all her supplies, bringing a nurse," Kim said. "All for the joy of those two hours. It's all worth it. It makes every time you do something so utterly powerful."
In 2006, Kim became President of MitoAction, a grassroots organization dedicated to support, educate and advocate for families living with Mitochondrial Disease.
"I want other people who have Mit-ochondrial Disease in their lives to be able to find ways to live fully," she said. "And I also want for the rest of the world to know that Mitochondrial Disease exists."
With increased awareness, she said she believes people will be more respectful of those who suffer from Mitochondrial Disease, and that researchers will move closer to finding a cure.
Sirtris Pharmaceuticals, Inc., a Cambridge-based pharmaceutical company, is working on clinical trials to determine whether SRT501, a phyto-antioxidant found in the skin and seeds of grapes, has beneficial outcomes for a population with adult-onset Mitochondrial Disease. In preclinical models, the drug has been shown to enhance mitochondrial biogenesis in skeletal muscle
For now, however, Kim's unwavering hope for her daughter is to keep her as well as possible until better treatments emerge. Right now, she admits they've exhausted all resources.
"This is as good as it gets: constant hospitalizations, TPN, possible liver failure, risk of huge blood infection. This is as good as it gets," she said.
For many patients who hope for a cure, the day-to-day mission is, as Kim put it, to "live anyway."
This spring, Lorimier was admitted to receive palliative care at Mass General with the understanding that she has a life-threatening illness and that quality of life matters most.
"Palliative care doesn't mean we're not trying to explore new options," Kim said. "It means you know that life is short and that we're all dying; we all just have a different endpoint. To be able to know that that's true means every day is precious and every moment matters so much."
