Just as with most things in life, when it comes to researching diseases, there is strength in numbers. Most funding goes to researching well-known and wide-spread diseases such as cancer and heart disease.
As a result, research for diseases that affect less than 200,000 people can be hard to fund. Thirty years ago, patients, doctors and scientists connected to these diseases realized if they banded together they could create their own strength in numbers and banded together to form the National Organization of Rare Disorders (NORD).
According to NORD, there are almost 7,000 rare diseases in the United States, which brings the number of people in the country diagnosed with a rare disease to nearly 30 million.
"Certainly all of us in the rare disease community struggle to find research dollars," said Mary Dunkle, vice president of communications at NORD. "I think something like 12 percent of funding from the National Institutes of Health budget goes to rare diseases."
"We certainly appreciate the fact that the greatest share of the money needs to go to the diseases affecting the most people, but we also are constantly in there fighting to make sure that these diseases and the people affected by them are not forgotten," she added.
Dunkle said that access to funding for rare diseases has improved since NORD began in the 1980s, but it continues to be a challenge.
Despite these funding challenges, some research into rare diseases is being conducted here in St. Louis.
Washington University is home to the Neurofibromatosis Center, studying what director David Gutmann calls "one of the most common disorders you've never heard of."
Neurofibromatosis is a genetic condition that causes tumors to grow on the brain and other parts of the body.
Tenth-grader Allison Wyrsch and her mother Francis Wyrsch both have a type of Neurofibromatosis called NF-1. Allison was diagnosed as a baby and she and her mother have been David Gutmann's patients ever since.
Even though Allison has undergone chemotherapy for a malignant brain tumor, she remains hopeful about her future.
"You've got to remain positive," said Allison. "Anyone with NF-1 can be fearful...but I have a really great team."
The Center for World Health and Medicine at Saint Louis University also studies rare diseases, including sickle cell disease. Sickle cell primarily affects people of North African or Caribbean descent, and it is thought that it evolved as a way to resist the malaria parasite, said Executive Director Pete Ruminski.
"As a parent it's one of those things that you want to take away from your kids but you can't," said Delores Rucker. Her ten-year-old son and eight-year-old daughter both have sickle cell.
There are certain things her children just can't do, like play in the snow. Being in extreme weather conditions can cause pain flares. Still, she tries to encourage her children to take ownership of their lives.
"You've got sickle cell, sickle cell don't have you. That's kind of our motto," said Rucker.
Gutmann and Ruminski agreed that the hardest part of research to find funding for was the practical application of basic research that would translate knowledge into treatment. They called it the "valley of death."
"From the understanding the underlying disease, the basic research that goes on, I would say that that comes from the typical sources, NIH and things like that," said Ruminski. "The translational part is the tough part because pharma companies, traditionally you've got to have something ready for them."
"We're in that kind of valley of death of taking the discoveries and turning them into drugs, and that is tough because the NIH is focused traditionally on basic research, not translational," he added.
Gutmann echoed Ruminski's thoughts, although he suggested the NIH tends to fund the final stages of researching an idea rather than beginning part.
"The research funding really reflects the evolution of an idea," said Gutmann. "In an early stage that is very high risk, that is not something usually the federal government really feels comfortable (with), but that is where private philanthropy comes in."
- Sickle Cell Clinical Trial at SLU's Center for World Health and Medicine: 314-577-5638
- Neurofibromatosis Center at Washington University
- List of rare diseases on the National Institutes of Health website
- List of patient organizations on the NORD website