Rare Disease Day gives voice to serious illnesses

February 28, 2017

30 million Americans are affected by rare diseases – more than half are children.

“We never know when a rare disease will affect us or someone we love.”

Jakub Tolar, M.D., Ph.D., Executive Vice Dean of the Medical School and McKnight Professor in the Department of Pediatrics,  speaks from experience. He treats children at the University of Minnesota with inherited diseases that are severe, and many times, fatal. There are more than 7,000 rare diseases currently known to medical experts and only 4 percent have an effective treatment.

Fortunately, researchers and physicians are on the brink of change. Research in genome engineering, gene therapy and regenerative medicine is advancing rapidly. Soon, Americans could see new therapies being offered in clinical trials.

“The past five years have seen breakthroughs in technologies that will revolutionize the future of medicine,” explained Tolar, who is also Director of the Stem Cell Institute.

This news is especially pertinent to parents of children with rare diseases. Tolar suggests that, as a child’s advocate, parents should do more than just wait for that change to come them. One option includes joining a network of parents with children with the same disease. This helps patients, families and caregivers remember they are not alone. Days like “Rare Disease Day” February 28th help accentuate that point.

“It is easy to dismiss rare diseases as something that can never happen to you, to your family. But to the family impacted, it doesn’t matter that it’s a rare disease. It’s the disease that changes their life,” Dr. Tolar said while talking about Rare Disease Day.

Not only does Rare Disease Day help raise awareness but it helps raise money for research which benefits not only the children affected by these diseases, but others as well.

“These diseases provide models that will advance care in many disorders. Funding research for rare diseases helps everyone,” said Tolar.

Chloe’s Fight Rare Disease Foundation” is a Minnesota-based organization that knows that well. The group was started by the parents of Chloe Barnes, a young girl who lost her life to metachromatic leukodystrophy. The money raised goes to research on childhood rare genetic diseases at the University of Minnesota. And on Rare Disease Day, in a year dedicated to research, the group plans on spending the day at the Minnesota State Capitol Building to meet with lawmakers about rare genetic diseases.

“Every day I am reminded of how much people will do to take care of their children and how much we still need to do to help them,” said Tolar.

The University studies and treats many rare diseases, like sickle cell disease, epidermolysis bullosa, Fanconi anemia and more. Learn more about how you can donate to those causes and ways researchers are searching for new treatments.