One Mom's Quest to Save Her Twins

Addison and Cassidy HempelPerched at the kitchen island in her home, 10 miles from the pulsing neon strip of Reno, NV, Chris Hempel pulls out a pink Shutterfly photo album and flips through its pages. She smiles, as every mother does when reminiscing about her children as babies, but her eyes also mist over while she revisits the early life of her twin daughters. She runs a finger down the milestones she documented: Addison's first words were "outside" and "open"; Cassidy's were "doggie" and "duckie." They walked early, at 10 months. The photos are adorable - naked babies blowing bubbles and smearing vanilla frosting all over their faces, bright-eyed toddlers hell-bent on climbing over furniture, mischievous little girls unleashing flash floods at the water cooler. "They just got into stuff," Chris says, laughing. "They were super-happy, smiling all the time."

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Her gaze moves to her daughters, 7 at the time of this visit, slumped at a toddler table, their eyes unfocused and distant. Chris sits down to feed them, lifting the spoon with encouraging coos that are met with an occasional grunt, but mostly silence. Tiny pieces of turkey and pineapple miss the girls' mouths and land in the hard plastic bibs circling their necks. Cassi flails her hands about, refusing to eat. She can barely keep her head steady.

After lunch, Chris's husband, Hugh - a no-nonsense bear of a man whose serious disposition melts around his daughters - carries Addi and Cassi to a room down the hall, where they sit on miniature overstuffed chairs covered in white sheets and watch cartoons most of the day. Chris returns to the album and pages back to images of the girls on tricycles at age 3. "We noticed they weren't pedaling right," she says. At first, the signs of trouble were vague: The twins didn't seem to be running like other kids, or they'd walk and suddenly their heads would flop backward. Then they came down with a virus. In Chris's view, there was an instant change. "Their eyes were just delirious," she says. It was right around their third birthday, and they couldn't shake their sickness.

As the weeks bled into months, Chris knew something was seriously wrong: "I could see these subtle things - like their balance was off. And their eyes didn't seem to be tracking right. Other people thought I was crazy," she says. "My family kept telling me the girls were fine."

Then, during an exam, the girls' pediatrician found that their spleens were swollen to four times the normal size. Chris took them straight to Lucile Packard Children's Hospital at Stanford Medical Center in Palo Alto, CA. Over the course of five visits, they were seen by top immunologists, geneticists, and hematologists, none of whom could figure out what was wrong with Chris's daughters.

That would take another 18 months.

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Although all the tests came back negative, Chris was sure the girls - who were, after all, identical twins - had a genetic condition. Then she noticed troubling new neurological symptoms, especially a faint slippage into slurred speech, and e-mailed the geneticist at Stanford - who realized there was one disease he hadn't tested for.

It was an extremely rare genetic disorder called Niemann-Pick Type C disease (NPC), which affects only about 250 children in the U.S. Chris immediately Googled it and was devastated. NPC, she read, was a defect on the gene that regulates cholesterol metabolism in the cells. Harmful amounts of the fatty lipid (which our bodies make continuously and normally excrete) accumulate in the spleen, liver, lungs, bone marrow, and, ultimately, brain, leading to neurological deterioration that can trigger seizures and loss of motor skills like walking, holding a pencil, even swallowing. NPC is sometimes dubbed "childhood Alzheimer's" because it leads to severe dementia.

Chris had the girls' skin biopsies rushed to Stanford. Two weeks later, on October 17, 2007, the hospital called and confirmed her worst fear: Her daughters had NPC. As they watched, Chris ran out of the house, crying hysterically. How can this be? she thought. They're talking and singing and playing with the neighbor's dog and having fun at school. And now they're going to lose their minds and die?

"We're sorry," the doctors told her. "There's nothing anyone can do."

Hugh Hempel with Addison and CassidyNow, just a few blocks from Reno's slot machines and roulette wheels, a different high-stakes game is playing out. On the fifth floor of the Pediatric Specialty Care Unit at Renown Regional Medical Center, two hospital beds are pushed together. Addi and Cassi lie on them, dressed in pink shirts and PJ bottoms embellished with cartoon sheep, their long chestnut hair secured with pink bows.

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On this Tuesday in May, just as he does every Tuesday, Hugh gently changes their diapers. He patiently attempts to feed them scrambled eggs, peach yogurt, and bananas. He hands them pink sippy cups - "Sugar and Spice and Everything Nice," the cups say - which the girls drop intermittently. Sitting up, keeping their heads aloft, saps all their energy.

As Tinker Bell plays on the TV, Hugh lays his massive body between the girls. He comforts Cassi with hugs and kisses and whispers terms of endearment as the nurse pricks a needle through the little girl's skin and into the catheter surgically implanted in her chest. For the next eight hours - as the girls stare at the beautiful fairy on the TV, sometimes dozing off, sometimes seizing up with uncontrollable spasms and twitching - a megadose of an experimental drug drips into their bloodstreams. The "drug" is actually a simple, nontoxic sugar compound called cyclodextrin that Chris came across in an obscure research study. Right now, the cyclodextrin is Chris's best hope for arresting the progression of her daughters' fatal neurological condition and saving their lives.

Chris arrives a few hours later to relieve Hugh. A seizure jerks Cassi's body out of slumber, and Chris, wearing a comfortable velour tracksuit, her hair tucked behind her ears, goes to her side. Cassi whimpers and slaps at her mother. "She's telling me she's mad," Chris says. Little gestures and grunts are the only way Cassi and Addi can express themselves now.

The sugar molecule that is flowing through the girls' veins - and that is injected into their spines every two weeks either at Renown or at the larger Children's Hospital Oakland, in California - seems to be helping. They are less floppy, Chris says, more aware and affectionate; they can hear better, which is a rare, major reversal. Still, it's not enough. Time is running out for them, and their fate is now in the hands of the FDA and the hospital's institutional review board, which will soon rule on whether Chris can have this compound delivered automatically into her daughters' brains, where it can more effectively perform its cholesterol clearing. Despite working relentlessly to put together the drug and device protocol, Chris knows she faces long odds: Only 5% of all rare diseases have an approved drug treatment. Still, this mother - not a global pharmaceutical company, not the government-run National Institutes of Health - desperately needs to become a member of the 5% club.

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Without $800 million and 12 years to invest - typical estimates for bringing a new drug to market - it's an overwhelming challenge. "What Chris is doing is remarkable," says Nancy Goodman, whose son Jacob died from a rare form of pediatric brain cancer called medulloblastoma three years ago. When he was diagnosed at the age of 8, she reached out to 36 different teams of physicians and scientists in more than a dozen countries, only to discover there was no curative treatment for Jacob's form of the disease. Doctors could only administer a high dose of chemotherapy, which left him neurologically and physically incapacitated until he passed away two years later. Indeed, Goodman says, in the past 30 years there have been no significant changes in treatment for his type of cancer. "The most important problem we face with orphan diseases is that there is no drug development," she says. "We rely on private companies for new medications, but since the markets are so small, there is no financial incentive for them to invest in that work."

Addison and Cassidy HempelAnd so it is left to parents like Chris Hempel to try to do an end run around the system to save their kids.

Your children are going to die, and there's nothing anyone can do. Imagine, just for a moment, being a mother and grappling with that reality. At first it leveled Chris, but within days, the former Netscape corporate communications executive realized it was up to her to try to make a miracle happen. "If we waited for the pharmaceutical companies or government researchers, it would be too late," she says. "We were in a trap, and we had to get out of it ourselves."

Glued to her computer in the family's kitchen, Chris came across the study about cyclodextrin: This compound, derived from potato starch, was extending the lives of mice with NPC. She spent the entire night - and many weeks afterward - at her kitchen desk, trying to find out everything she could about it. "It was like a scavenger hunt, going from clue to clue," she says. "I learned that cyclodextrin was used as a softener or sweetener with other drugs, so I thought maybe we could just use the cyclodextrin itself. That led me to a supplier in Florida, and he told me about researchers all over the world studying the chemical. I contacted scientists in Japan, in Hungary, at UT Southwestern in Dallas - anyone working on cyclodextrin or doing research on cholesterol or NPC itself."

At first, Chris thought she'd be able to simply give her girls cyclodextrin in juice. But she soon learned that the compound would be broken down in the stomach and had to be administered through an IV directly into their bloodstreams. That meant she'd be administering it as a drug - which required FDA approval.

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Chris called the agency to find out about its compassionate-use program, which allows patients with life-threatening conditions to gain access to experimental treatments outside of a clinical trial. Although cyclodextrin was already being used in some drugs and beverages, officials told her that the agency needed human-safety data to approve the experimental protocol.

Chris knew that a Belgian company, Janssen Pharmaceutica, held the patent on a drug containing cyclodextrin, and she called the company to ask it to share the safety data with her. An executive flatly denied her request, telling her the information was "proprietary." Not one to give up, Chris discovered that Janssen was owned by American drug giant Johnson & Johnson, makers of the kids' products - baby powder, shampoo - she used every day. She decided to write a blog entry about her experience, with the headline "Dear Johnson & Johnson, Do Kids Really Matter to You?" She e-mailed a copy, along with a note, to Johnson & Johnson's corporate communications team. "I didn't want to sound like I was threatening them," she says now, "but I made clear that I needed the information." She knew, she adds, "that it wouldn't look good if people found out they were not helping my kids with this fatal disease."

Chris hit Send at 4:00 P.M. on Friday, February 12, 2008. At 7:00 the next morning, her phone rang. It was a vice president at Johnson & Johnson, telling her that the company wanted to help, that he had half a dozen people he wanted her to speak with on a conference call in 15 minutes. Johnson & Johnson gave the FDA the right to review the safety data on cyclodextrin - an enormous breakthrough for Chris, representing years and years of studies and millions of dollars.

Still, the reams of paperwork she needed to file were a laborious and intimidating bureaucratic hurdle. Luckily, her daughters' doctor, Caroline Hastings, M.D., agreed to help. Filings for the FDA would go out under Dr. Hastings's name, and she would review them, but since she had a busy pediatric oncology practice in Oakland and Reno, she couldn't personally chase down the hundreds of pages of research references and scientific articles, medical histories, and records that the application required.

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Chris hired a Ph.D. with a background in neuroscience, and over the next year the two of them pulled together the documentation - a remarkable achievement. "Chris Hempel is an extraordinary figure in the world of rare diseases and the effort to find new and innovative treatments and cures," says FDA Commissioner Margaret A. Hamburg, M.D."Not only has she helped put a face on a disease that most people had never heard of, but she has helped identify important science and shape drug development in creative and important ways."

Find out how Chris' efforts impacted her girls by reading the rest of this story.

- by Gretchen Voss

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