Suffering through a mystery
The Thorell family has a way of turning a hospital waiting room into a living room.
No matter which hospital they are in -- Boston's Children's, Mass General, Tufts-New England Medical Center, Columbia Presbyterian Hospital in New York, or the Scottish Rite hospital in Atlanta -- they settle right in. That's because they spend nearly as much time shuffling through doctor's appointments as they do at home in Carver. What appears to be a little known hereditary illness called mitochondrial disease is reshaping their lives.
Donna and Rod Thorell and their five children have waited their way through years of physical breakdowns and recoveries. Thirteen-year-old Timothy Thorell has a heart murmur, respiratory problems, relies on a feeding tube, and can't walk right now because of muscle weakness. Eight-year-old Lianna has a weak immune system, muscle pain, and asthma that requires emergency room visits and steroid treatments. Eighteen-year-old Joshua is always tired and his body has trouble regulating temperature. Sixteen-year-old Kristofer has a bleeding disorder, muscle weakness, and seizures. Three-year-old Reilly relies on IgG immunoglobulin every three weeks to boost his immune system.
Donna Thorell has persistent stroke-like episodes and diminishing energy. Only husband Rod remains healthy.
Their daily life is a snapshot of one family's struggle to adapt to -- and sometimes even triumph over -- a debilitating disease. It is also a window on an incurable illness that remains largely a mystery, one that defies easy description and diagnosis, even as it gains public recognition.
Ask Rod Thorell, a quick-witted bear of a man who rarely dwells on the negative, how he and his wife cope, and he answers: ''I don't know. What's the opposite of that?" He knows there is no other choice.
The Thorells welcome the recognition finally being paid to mitochondrial disease, an incurable illness that prevents a body's cells from producing life-sustaining energy. It was heartening to see Mayor Thomas Menino lead a walk against mitochondrial disease along the Charles last weekend, the first of three Massachusetts walks scheduled over a ten-day stretch. They are grateful for pending legislation that would require insurers to help pay for treatment.
As members of a newly created Mitochondrial Disease Action Committee, the Thorells add what energy they can to those efforts. But simply surviving, day to day, remains a challenge. They never thought it would be like this.
Donna, 38, and Rod, 39, have been married for 19 years. The high school and college sweethearts always wanted a big family. Even with five children, Donna -- who didn't know about the disease until all the children were born -- longs for a sixth child. She wouldn't dare.
''This is a killer. I don't want to put anyone else through this," she said last winter as she sat at her dining room table with her daughter during one of many interviews conducted over several months. ''In 10 years," she says grimly, ''I could have no children." Indeed, the future is hard to predict. The severity of the illness varies greatly from person to person, its course uncertain.
A typical day in the hospital One morning spent in the Tufts-New England Medical Center is typical of daily life. The family filled the waiting room. Rod, who lost his job in Massachusetts and, as a last resort, took one in Indianapolis, checked his airplane information for his weekly commute as he tried to persuade his wife to eat breakfast. Donna, already exhausted by 9:30 a.m., sat at a child-size table with Tim and Lianna going over reading and math assignments as the laugh track to ''Becker" blared on the hospital television.
Kristofer, who lacked energy on this day, sat in a wheelchair facing a wall and watched ''Pearl Harbor" on his personal DVD player. Reilly, spirited and talkative as usual, darted around the room. The quiet Joshua sat reading a book until he was briefly interrupted by his mother. She stood before him and filled his outstretched hand with pills. ''This is just Joshua's morning medicine," she said. He washed down the pills with soda and continued reading.
There are so many medications for so many people and so many symptoms to track that Donna and Rod keep a red loose-leaf binder with pages of documentation on each family member. The medical files in their doctors' office are as thick as residential phone books. The red notebook goes everywhere they go -- even when they all went to Give Kids the World Village in Florida on a wish trip for Joshua. Give Kids the World is a nonprofit resort for children with terminal and life-threatening illnesses.
When she was growing up in Easton, Donna wanted to go into the medical field. Now, the stay-home mother knows so much about medications and syndromes that she feels she has earned an honorary medical degree.
Even so, the couple tries to keep life as normal as possible, even when ''events," as Donna calls them, occur -- such as the time the left side of her body became immobile and she had trouble retrieving her words. Donna, who won't buy herself new clothes and often wears the same style striped shirt over and over, gets her nails manicured. It's the one luxury she allows herself. Last winter, Joshua completed an Eagle Scout project in which he helped build shelves for a food pantry.
Strangely enough, the chaos and illness -- and even the distance -- has drawn together the couple, who has spent more wedding anniversaries with nurses and doctors than alone with each other. Rod commutes out of Logan airport at 5 a.m. Monday mornings and returns on Thursdays around 9 p.m. After five months without work, he took a job as a computer systems validator on contract for a pharmaceutical company.
A ''working diagnosis"The illness that binds them is as unpredictable as their lives. Not only does it affect each victim in a different way, but available diagnostic tests -- muscle biopsy, blood, and genetic tests -- don't always confirm the disease, making it hard to identify. Indeed, the Thorells' tests remain inconclusive, although doctors say that mitochondrial disease is clearly the family's ''working diagnosis."
A combination of three or more symptoms (muscle weakness, exercise intolerance, hearing impairment, seizures, learning disabilities, cataracts, heart defects, diabetes, stunted growth) in one person strongly points to the illness, especially when the symptoms involve more than one organ system, according to medical literature.
The United Mitochondrial Disease Foundation estimates that between 1 in 2,000 and 1 in 5,000 children born in the United States each year will develop mitochondrial diseases. Half this group will become symptomatic before age 5, and 80 percent of those will die by 20, according to foundation estimates. Because so few physicians and research centers properly diagnose the disease, the foundation believes it is grossly under-diagnosed.
The illness is so misunderstood that Donna, in the early stages, wouldn't go to appointments without the backup of her husband for fear doctors would not believe her. She home-schools her children because, she said, school officials have not understood the physical fallout of the illness and how it affects classroom performance. She has grown weary of people (including close relatives) who tell her that perhaps it's all imaginary.
But the science of mitochondrial disease, say specialists, is all too real. Kidney-shaped mitochondria are specialized compartments found in every cell of the body except red blood cells. They provide energy to cells, and are vital for organs to properly function. When mitochondria fail to do their job, the organs they serve don't function properly.
The disease can hinder gastric, pulmonary, immune, and neurological functions, said Dr. Mark Korson, a leading expert in the field and chief of the Division of Metabolism at Tufts-New England Medical Center's metabolic treatment center. He has been monitoring, stabilizing, and treating the family's symptoms as they arise.
Other doctors evaluated the Thorells before he took the case, but reached no diagnosis. Korson says that is not unusual for patients with the disease. ''Available testing to date for mitochondrial disease has not been able to confirm this diagnosis but we know that there are limitations to the current testing . . ." he said. ''Therefore, for this family, it is our best working diagnosis."
One of the hardest parts is that the disease ''is not well known in the general medical community," said Margaret Klehm, the Tufts-New England Medical Center nurse practitioner who also has worked closely with the family for months. ''So patients have many diagnoses before this," including psychiatric and immune disorders, Klehm said. Sometimes when patients are not adequately diagnosed, doctors can miss opportunities for adequate care, she said.
Although laboratory tests for the Thorells have proved inconclusive, she said, ''There is no other diagnosis that can account for their symptoms. They all have a collection of symptoms that are highly suggestive of mitochondrial disease."
According to Bridget Willis, a Plymouth resident and president of the New England chapter of United Mitochondrial Disease Foundation, there are at least 400 families on record confirmed or suspected of having the illness in Massachusetts.
The Thorell family visits doctors with such regularity that since February they say they have driven more than 7,000 miles back and forth to medical appointments from their home. When their aging van died, a local car dealership loaned them a replacement. A new van would be nice, but is not financially possible. It's hard enough to pay out-of-pocket for one of the few treatments -- vitamin therapy -- that seems to help those stricken by the disease.
State Representative John W. Scibak, a Democrat from South Hadley has come to know the family. He has been interested in mitochondrial disease since a young constituent from Easthampton contacted him because insurance wouldn't cover the over-the-counter nutritional supplement, CoEnzyme Q10, he needs.
Legislation proposed Scibak has proposed legislation that would require coverage and payment for prescribed treatment for mitochondrial disease, including the use of vitamin and nutritional supplements such as CoEnzyme Q10, which can cost $300 or $400 a month for one person. The legislation also calls for the commissioner of the Department of Public Health to appoint a Mitochondrial Disease Advisory Committee.
''The fact that we're talking about six individuals in a family with what is apparently a very debilitating disease, and one that is unpredictable, I've got to admire Rod and the mom," said Scibak. ''You get up in the morning and you never know whether it's going to be a good day or a bad day, and for how many members of the family is it going to be a good day or a bad day. And, to try to live a normal life, that's got to be stressful and challenging."
The amazing thing, said Scibak, is that Rod is such an upbeat person. So is the rest of the family.
Donna and Rod have decorated the house in a Walt Disney theme. Disney knickknacks cover almost every square inch of the living room, and Donna has hidden a Mickey Mouse in every room. When there is a particularly difficult day she has the children play ''find the Mickey."
The couple chose the Disney theme and a decor of reds, black, and white strips to add an element of fun to their home. And because it's different. Said Donna: ''We just got tired of our home looking the same as the hospital."
Sandy Coleman can be reached at sbcoleman@globe.com. 