By Cortney Fielding, Staff Writer
Article Launched: 02/03/2007 11:27:23 PM PST
ALHAMBRA - Almost every light is out in the Alvarez home, but the family's 18-year-old daughter still wears sunglasses.
The soft glow of a nearby fish tank is about all the light Mimi Alvarez says she can stand before her skin breaks open.
Hunched over on the living room couch, she describes how she can't sit up long because her bones will "lock up" and the stabbing pain she in her stomach will become worse.
"I really try not to think about it," she says of the sensations radiating through her body. "But I don't know how long I will be able to make it."
The Alhambra resident has lived in almost total isolation since she was 12, when she says a series of escalating symptoms - including light sensitivity, extreme nausea and stabbing pain - began.
She hasn't stepped foot in a regular classroom since the sixth grade, and now few friends stop by. But to those who come to visit the thin, pale teenager, it seems clear something is very wrong.
"Mimi has pretty much been like death warmed over since I've known her," said Claudia Jensen, a pediatrician and instructor at USC's Keck School of Medicine who first met Mimi three years ago when her students were unable to find the cause of Mimi's distress.
"Just to hear these thoughts, they run the gamut," said Mimi's father, Henry Alvarez. "It breaks my heart. This is my daughter. She's lost all her youth."
Living through years of frustration and medical dead ends, the knowledge they could finally be heading for a breakthrough is giving the family some hope.
But the diagnosis is not a sure thing.
Richard MacKenzie, Director of Adolescent Medicine at Childrens Hospital Los Angeles, first suspected porphyria after Mimi was admitted to his hospital, complaining of "vague symptoms" that seemed to line up with the disease.
While an initial urine sample tested positive for slightly elevated levels of porhpins, the levels were not high enough for a diagnosis of porphyria. And every subsequent tests for the condition has come back negative.
"There is no doubt that she has real symptoms," he said. "But the tests don't bear them out."
Porphyria support group Web sites are filled with stories of people who went years without getting a positive test. Few labs nationwide are capable of the conducting the test, and operator error, contamination and even administering the test at the wrong time or while a patient is taking nutrition through an IV (like Mimi) may produce false results.
MacKenzie said it's possible. "I'm not pooh-poohing it," he said. "I'm willing to keep an open mind."
A genetic test could offer the family a definitive answer. The Alvarezes set their sights set on a Harvard University researcher in Boston, who is possibly the only person in the country capable of administering such a test.
Boston had another key advantage. Mimi is on feeding tubes because she can't keep solids down. Because of reactions to soy that make her skin break and bleed, she is not being fed the necessary fats. Without them she is weak.
"I'm basically starving all the time," Mimi said. Worse, her organs are in danger. Doctors said they will eventually fail if she continues without fat long term.
Boston Children's Hospital is conducting an experimental trial for a fat that doesn't contain soy, and Mimi is assured a spot if she can get there.
With Mackenzie's blessing, the family planned on catching a flight to Boston.
But like with everything else in Mimi's life, it proved not so simple.
Mimi hasn't left her home, and has barely gotten out of bed, in a month. Her skin has closed up and healed, but getting on a commercial plane with its lights and smells and no room for her many feeding tubes, seems impossible to her.
"I just can't handle it," she said.
Henry Alvarez spends his nights surfing the Internet for nonprofit flight groups that can do the medical transport on a private plane.
He has found groups that offer medical flights at a discounted rate - from $17,000 to $25,000 across the country. With medical bills pouring in each month, it's money they don't have.
"We've pretty much tapped out our house, all our assets," he said.
Mimi's story is now spreading throughout the San Gabriel Valley, and fundraising efforts are under way. The Praise Chapel in Whittier, where the Alvarez family attends church, has been collecting donations and the Elks in Montebello are planning a fundraiser.
In La Puente, Mayor Louie Lujan helped the family open an account for donations.
But fundraising is slow going. Henry Alvarez has taken to soliciting in front of grocery stores.
"I feel like a beggar out there," he said. "But I have to do it."
What exactly is wrong with Mimi has been a mystery from the outset. But the Alvarez family has come to believe she has a form of porphyria - a little-known condition for which there are only 10 specialists nationwide.
Either inherited or acquired, the disease is categorized by a breakdown of enzymes in a part of the body known as the porphyrin pathway. It can manifest itself a variety of ways, causing symptoms like abdominal pain, dark-colored urine, extreme sensitivity to light or smells, skin that blisters or rashes with exposure to the sun - and in some cases paralysis, mental disorders and hallucinations.
It's an explanation they've arrived at after six years parading from specialist to specialist in between lengthy hospital stays.
Doctors first suggested Mimi suffered from anorexia when she dropped to 117 pounds from 236 during three months when she said she couldn't keep food down in 2003. Others believed she was making herself sick for attention, and at least one psychiatrist told her parents they suspected them of making her ill - a mental condition known as Munchausen syndrome. Her family strongly refutes the accusations.