One child’s illness sparked a medical revolution

While finishing medical school at Johns Hopkins, Dr. Jimmy Lin had an encounter with a family of a very sick little boy that changed his life.

This 6-year old Indian boy was accompanied by his parents and extended family, and traveled all the way from upstate New York to Baltimore. They had already seen the top experts at Harvard and the Mayo Clinic, and came to Johns Hopkins with great hopes of finding the answer.

Perfectly healthy until about 3 years old, the boy suddenly lost his ability to use any of his muscles, was unable to talk, or walk, and had to be fed through a tube.

Dr. Lin and his team spent several hours evaluating the little boy. About half way through the exam, the boy started moaning as if in pain.

The mother quickly apologized. The moaning got louder and louder.

The mother panicked and started to sob, “We don’t know what to do.”

After reviewing the other tests from top institutions and exhausting every available test with no conclusive results, the team could not come up with a reason for his condition. There was no additional clinical testing available to use.

Now it was the team’s turn to apologize, to the child’s mother.

With a look of hopelessness, she sadly wheeled her son down the hallway toward the exit. That memory—wheeling the child away with heads pointed down—was life changing for Dr. Lin.

“Our hearts broke.”

From that moment forward, Dr. Lin decided that he would try to find a way to help children like this little boy and the parents who search desperately for an answer. “We must do something to help these families,” he said.

Along with colleagues from Harvard and Yale, Dr. Lin founded Rare Genomics Institute (RGI), a non-profit biotech venture that crowdfunds genome sequencing for children with rare and orphan diseases. RGI connects top scientists from across the US and around the world to the families with a child with a rare disease for expert diagnosis.

The RGI team is composed of some of the world’s leading experts in genomics. This was the beginning of what is now a strategic partnership with over 50 world-class scientists from top medical institutions across the United States and around the world. “Using cutting-edge technological advances, we are improving the field of medicine for our patients and their families,” said Dr. Lin.

These experts use their skills, training and experience to dramatically impact how rare diseases are discovered and treated—moving toward a day when no apologies are necessary.