Dr. Caroline Hastings (left) with patient Jessica “Jesse” Sharps (center) and Jesse’s mother, TJ Racoosin.

Dr. Caroline Hastings digs deep for a solution to a rare pediatric disorder and forms long-lasting family relationships along the way.

When Chris and Hugh Hempel’s identical twin girls were toddlers, the vibrant brown-haired sisters suddenly grew lethargic and prone to vomiting. No one—not their pediatrician, not the experts at Stanford—could figure out what was wrong with them.

“At first we thought it was mono,” said Chris Hempel, a former tech public relations executive who lives in Reno. “They had a million tests, but nothing was coming back definitively. It was a medical odyssey—is the only way I can describe it.”

Of the myriad doctors who saw their girls, only one—Dr. Caroline Hastings, a pediatric hematologist oncologist at UCSF Benioff Children’s Hospital Oakland who practiced a few days a month in Reno—stuck with the twins until she found a diagnosis. And it was most definitely not mono.

After poring over medical books, Hastings was finally able to diagnose the girls’ illness as Niemann-Pick Type C, an extremely rare genetic disorder that affects the movement of cholesterol in and out of cells. As cholesterol accumulates, patients experience a progressive decline in neurocognition, motor skills, and organ function. Niemann-Pick Type C, known as “childhood Alzheimer’s,” is universally fatal and most patients die in early childhood. Only about 500 people worldwide have the disease.

For Hastings and the Hempel family, that’s where the real odyssey began.

“Chris called and said, ‘It might be too late, but I can’t sit back and do nothing and watch my kids die. Can you help us?’” Hastings recalled recently. “I said, ‘Absolutely.’”

That was 10 years ago. Their partnership has led to groundbreaking new treatments that could help millions of people suffering from other diseases, hard-fought victories over government and pharmaceutical bureaucracies, and a new use for the key ingredient in the air freshener Febreze.

But it has also resulted in something no one thought possible a decade ago: Addi and Cassi Hempel are alive. They’re in wheelchairs, they can’t talk, they’re prone to seizures, but they are happy, affectionate preteens who love hanging out in the garden, watching Tinkerbell on TV, giving kisses, and eating anything fruity, especially pineapples.

Just after the girls’ diagnosis, Chris Hempel began scouring the internet for studies on cholesterol storage diseases. She found a researcher at the University of Texas Southwestern, Dr. Benny Liu, who identified a sugar compound that dissolved built-up cholesterol in Niemann-Pick mice and appeared to extend their lifespans significantly. The compound, cyclodextrin, is the chemical that makes Febreze neutralize bad odors. It’s used in dozens of common products and is available online for about $5 per gram.

So that’s what the Hempels and Hastings did: ordered cyclodextrin over the internet and began feeding it to the twins

“It looks like powdered sugar,” Hastings said. “It’s one thing to have this box in front of you. It’s another to know what to do with it. You can’t just eat it. This had never been done before. We were in the dark.”

After working with the U.S. Food and Drug Administration, the Florida company that makes the compound, and other doctors, pharmacists, and researchers, Hastings started giving the girls extremely low doses intravenously—twice a week for eight hours—in April 2009. The girls were 5.

Chris Hempel noticed changes almost immediately. They girls began making eye contact, their balance and swallowing improved, and they had a little more strength.

A year and a half later, after surmounting reams of FDA, pharmaceutical, and insurance paperwork, they got approval to administer the drug directly into the twins’ brains via injections in their lower spine. It was a medical first and made headlines on science pages around the world.

COURTESY OF THE HEMPEL FAMILY

Addison and Cassidy Hempel’s parents say they would not be alive today if it were not for Dr. Hastings.

Meanwhile, the Hempels and Hastings started hearing from Niemann-Pick families around the world and developed a vast network of doctors, researchers, and families who could share information. The Hempels’ website includes frequent updates on scientific research that can help Niemann-Pick families as well as those suffering from related diseases.

And that’s what gives Hastings the most hope of all. The research and treatments used for Niemann-Pick have shown promise in treating coronary disease, HIV, and possibly Alzheimer’s. UC Davis is currently preparing an HIV-cyclodextrin study. And Dr. Benny Liu—the UTSW researcher who first discovered the link between cyclodextrin and cholesterol—now works at Highland Hospital in Oakland and has teamed with Hastings on a cyclodextrin clinical trial.

Although still at Children’s, Hastings now spends much of her time with Niemann-Pick patients, working on research and refining treatments. In fact, she often hosts patients and their families overnight at her home while they’re undergoing treatments and has developed close personal relationships with many of them.

“We’ve all become experts on this very rare disease. At this point, I feel like I have a lot to teach but also a lot to learn,” she said. “There’s the intellectual component, but mostly I’m just fascinated by the disease. It’s exciting to learn more about it, and it’s really exciting to be part of the development of treatments.”

Cyclodextrin also appears to be helping another of Hastings’ Niemann-Pick patients, 25-year-old Jessica “Jesse” Sharps (pictured in the top photo with her mother, TJ Racoosin, and Hastings) of Seaside. Sharps, who was diagnosed at the age of 20, began to show cognitive impairment after middle school. She’s now taking cyclodextrin under Hastings’ care, and “her rate of decline appears to have lessened,” the doctor said.

Hastings said it’s fascinating how little the medical world actually knows about rare diseases, genes, and how these rare diseases may be linked—or not. For example, people with Niemann-Pick Type C appear to be immune to Ebola, but no one’s sure why. Deciphering mysteries like this, potentially shedding light on larger fields of medical science, is especially rewarding, Hastings said.

A longtime Rockridge resident and mother of three girls, Hastings, 55, has an unpretentious manner, easy smile, and low-key, friendly conversational style. She could be a clerk at Pegasus books as easily as a world-renowned physician. Growing up on Air Force bases around the United States, she knew from age 5 she wanted to be a doctor (inspired by the old Marcus Welby, M.D. TV show). While in medical school at UC Davis, she did an internship at Children’s Hospital and was immediately hooked.

“I thought I would be grief-stricken working with children with cancer, but the exact opposite happened,” she said. “It was wonderful to be able to enter the lives of families at the most significant time in their lives. You develop very intense, personal relationships, getting to know people whose lives have been uprooted, and yet they’re almost always so levelheaded, confident, creative. I find it very inspirational.”

The Hempels say their daughters would not be alive today without Hastings.

“Most doctors would never have the courage to tackle something like this,” Chris Hempel said. “But she realized she could help, and she put her career on the line to get this underway. She went to battle for us. She’s the most remarkable doctor ever, the perfect physician to team up with us.”

Hastings said she’s happy with the direction her career has taken and is eager to see where it leads her next.

“For years I was focused on leukemia, and I would have been happy doing that forever. Until the Hempels entered my life,” she said. “I think I’ve found my niche.”

Published online on Oct. 24, 2016 at 8:00 a.m.