Chris Hempel wishes her daughters could scream at the grocery store.
"It's so frustrating when I'm at the store or the airport and see how parents treat their kids," she said. "Do you know how much I wish my kid could grab a Snickers bar off the shelf and rip it open and eat it?"
Her daughters, Addison and Cassidy, could sing "Twinkle Twinkle Little Star" four years ago.
Their cute voices can be heard on a tape parents Chris and Hugh Hempel still have.
Today, the 8-year-old identical twins don't sing. They don't talk anymore. They have seizures and periods of dementia. Eventually, they might need feeding tubes and will be bedridden and die.
And while some parents battle candy, the Hempels are meticulous about their daughters' diets.
"To us, cholesterol is our enemy," Chris said.
On October 17, 2007, the twins were diagnosed with Niemann-Pick Type C disease. It is a rare, fatal genetic disease often called childhood Alzheimer's disease. It causes cholesterol to build up and get trapped in the cells, overloading organs and attacking the brain. Most patients don't live past their teens.
Hugh Hempel said he misses the sweet sound of his daughters' singing.
"It's bittersweet to have it," he said of the tape of Addi and Cassi singing nursery rhymes.
"In one way, I'm glad I have it. But in another way, I know it's something I will never hear again."
A bigger battle
The Hempels are waging a war to save the lives of their beautiful daughters, who are being attacked mentally and physically by their disease. They are driven, fighting the Food and Drug Administration and the pharmaceutical industry to save Addi and Cassi.
They have done the impossible, according to some in the medical community. By doing their own research and discovering a simple compound used in laboratory tests, they were able to file applications with the FDA and get permission to use a treatment, never before used, on their daughters.
The compound likely won't save their lives, but it has slowed the progression of the disease.
They continue the fight.
Chris traveled to Washington, D.C., at the end of February to advocate for a bill aimed at changing the way new treatments and drugs are brought to the marketplace.
Chris said the patent process makes it nearly impossible for most people to get access to drugs that can help.
The same week, filming finished on a documentary about the Hempel family.
"Here. Us. Now" was filmed by Emmy Award winner Rudy Poe. The film is expected to be released later this year.
"What you realize about this family, more than just the David and Goliath story, is how they have uncovered the idiocies of the medical system," Poe said.
"When someone told them 'no' or they hit a wall, they found a way around the wall," Poe said.
When the twins were diagnosed, their parents, former Silicon Valley dot-commers, found themselves frantically looking for treatments.
After reading about research by scientists at the University of Texas, who were treating mice with Niemann-Pick Type C disease with the sugar-like compound cyclodextrin that's found in common items such as chewing gum and air freshener, the desperate parents faced the daunting task of being approved to try the same treatment on Addi and Cassi.
"You would think it would be something simple because you are in this sprint to save your children's lives, but the system is screwed up," Chris said. "We are saying there is something that might work to save their lives, and we are being told we can't use it."
The Hempels had to get approval from the FDA since cyclodextrin had not been used in this way. They filed paperwork along with the twins' doctor, Dr. Caroline Hastings from Children's Hospital and Research Center in Oakland, Calif. The FDA wanted data on the compound, so Chris went to a pharmaceutical company with information. When the company turned her away, she went to Johnson & Johnson, the parent company of the pharmaceutical company, for help.
The company released its findings, and the FDA approved the use for Addi and Cassi. It took six months, but finally, in April 2009, they received their first dose.
When research showed that the compound didn't cross over from the bloodstream to the brain, the Hempels and their doctor again filed an application with the FDA to get the compound directly to their brains through spinal injections.
The family is waiting for FDA clearance to surgically implant ports that will deliver the compound directly to the brain, much like an insulin pump.
"They have improved. They had lost their hearing, and now it's back," Chris said of the girls. "They also are much more alert. They were almost catatonic before, and now they make eye contact and are aware. They are happy."
The Hempels believe cyclodextrin has far-reaching implications and could someday help adults with Alzheimer's and heart disease. They hope that information spurs scientists and drug companies to take interest.
A top scientist agreed.
Dr. M. Flint Beal, chief neurologist at New York Presbyterian Hospital and an authority on neurodegenerative disorders, has been studying cyclodextrin's effects on mice.
Beal has spoken with the Hempels. He said he thinks his research will be published in medical journals later this year.
"It needs further development because cyclodextrin doesn't cross into the brain very well, but the findings are promising," he said.
The Hempels have become advocates for people with rare diseases. Chris cites information from the Myelin Repair Foundation, a nonprofit research group that is working to accelerate the discovery and development of treatments for multiple sclerosis.
"It's just shocking that of the $139 billion spent each year on medical research, which results in about 800,000 discoveries, only about 20 new drugs are released each year," she said. "No one is moving forward with treatment for rare diseases."
It's one of the reasons the couple started their own biotech company from their kitchen. Started six months ago, Solution Therapeutics is seeking funding to start clinical trials of cyclodextrin.
They hope research helps their daughters, but also makes it easier for other people suffering from the same thing to start treatments.
They are working on getting a large company to compound cyclodextrin so others with Niemann-Pick Type C, an estimated 250 to 500 people in the United States, could receive it.
Hugh said he hopes that, by creating their own startup, they can fast-track the FDA process, start clinical trials and get cyclodextrin approved as a treatment. As an approved treatment, insurance, in some cases, would cover the cost.
Chris said she blames the patent process and the lack of interest from drug companies who see her daughters' disease as only affecting a small group. She argues that her daughters may hold the genetic codes to help the millions of people suffering from Alzheimer's disease and heart disease.
She hopes someone is smart enough to listen.
Information from: Reno Gazette-Journal, http://www.rgj.com