Doctors have identified an estimated 7,000 rare genetic diseases and disorders with patient populations so small that the opportunity to fund research for treatments is just about as uncommon. Approximately 30 million people in the U.S. and 350 million people worldwide are living with rare diseases, according to Global Genes, a patient advocacy group. The Kakkis EveryLife Foundation, another advocacy group, reports that 95 percent of rare diseases do not have a single drug treatment approved by the U.S. Food and Drug Administration, which means many children with these genetic conditions don't live beyond their fifth birthdays.
Because of this, families of children with rare diseases sometimes live with very little hope. One such family is using social media to try to get something done.
Hollywood film producer Gordon Gray and his wife Kristen are racing against time to raise $10 million through social media. In March, the couple learned their 4-year old daughter, Charlotte, has Late Infantile-NCL Batten disease, an extremely rare condition that causes progressive neurological impairment, developmental regression, seizures, blindness, behavior changes and dementia. Most children with the disease die between age 6 and 12.
Batten disease affects approximately two to four of every 100,000 live births in the U.S., according to the National Institutes of Health. However, there are eight known genetic variants of the disorder and Charlotte has CLN6, one of the rarest. The disease is a result of both parents passing on a mutated copy of the CLN6 gene to their daughter. The couple has since learned their 2-year old daughter, Gwenyth, also carries both mutated copies of the gene. She remains asymptomatic, while her older sister has begun to show signs that the disease is progressing, such as developmental delays.
"Because this disease is so rare, there's no one funding this research to find a cure," says Gray, whose films include Million Dollar Arm, Secretariat and The Game Plan. "It's really become Kris and my job to fund, find and accelerate a cure for our daughters. That's what we're working on day and night."
The condition is one of approximately 50 lysosomal storage diseases. The lysosome functions as the cell's recycling center, and genetic mutations disrupt the cell's ability to dispose of waste, causing the build-up of proteins and lipids in the the nerve cells of the brain and other tissue.
The couple has started The Charlotte and Gwyneth Gray Foundation to cure Batten disease, and in the past week they received a boost from an all-star team including Jennifer Garner, Gwyneth Paltrow, Channing Tatum, Rihanna, Jon Hamm, Seth MacFarlane and others who encouraged fans to donate to the foundation via social media. As of Friday, the couple had raised nearly $400,000 toward their ultimate goal.
The couple first began to observe clues that something could be wrong with Charlotte toward the end of her first year of preschool, when it appeared she stopped hitting developmental milestones. There were visits with multiple doctors and a battery of tests. A genetic sequencing through a blood test eventually led to the diagnosis.
As is the case with many families in these circumstances, several misdiagnoses preceded the grim news. Doctors first told the Grays their daughter was on the autism spectrum. When she began having tremors, they said she had epilepsy. Then they speculated she had leukodystrophy, a less common neurological condition that causes the degeneration of white matter in the brain.
"She's still sweet Charlotte and she still likes to have fun, but she doesn't do it with as much gusto as she used to," says Kristen. She added her daughters are currently on a strict, mostly vegetarian diet and take a number of supplements that some believe might be beneficial. But there is little evidence-based research to back up any day-to-day decisions about their care.
"Yesterday is always going to the be best day because of the progression of her disease," says Charlotte's father.
Ultimately, what the family needs is an appropriate medical treatment.
The money raised through the campaign will go to fund several potential areas of research that may lead to an effective treatment for their daughters and other children with Batten disease. These include gene therapy, in which a doctor inserts a gene into a patient's cells, rather than use surgery or medicine. Another area of research—molecular, or biologic, therapy—works by targeting the unique molecular abnormalities with proteins made from living cells produced through a variety of regular processes. These types of drugs are already used to treat a number of cancers.
Gray's foundation plans to back the work of one researcher in New Zealand, who believes he could have a cure for Batten disease in a matter of years. He says he was able to cure sheep of a vector virus that is similar to Batten disease.
The Grays are certainly not the first family touched by rare diseases who have made the decision out of necessity to take on the financial and research tasks typically carried out by medical institutions and pharmaceutical companies. Chris and Hugh Hempel, a family in Reno, Nevada, helped develop and usher in a drug called cyclodextrin through a phase one clinical trial to treat their twin daughters, who have Niemann-Pick Type C, another rare genetic neurodegenerative lysosomal disorder. The Hempels were mostly able to accomplish this by connecting with other families who are touched by Niemann-Pick Type C and starting a foundation of their own.
The Gray family has already found support from the strong and very active Batten disease community. They've connected with families who have the particular rare type of the disease and live in places as far-flung as Israel and Portugal.
