A rare disease survivor, Megan Crowley, and her father John Crowley, were introduced to U.S. Congress on Feb. 28, 2017, when former U.S. President Donald Trump gave a speech to Congress marking Rare Disease Day. 

Megan was born with Pompe disease due to a rare genetic disorder. Megan and her younger brother, Patrick, were diagnosed with Pompe disease and were not expected to live past two years. 

On receiving this news, John founded a company and did everything he could to develop a new drug to treat his children’s disease.

John’s efforts led to the development of Pompe disease therapy and Megan and Patrick received the treatment. On that day at Congress, Megan was 20 years old and a sophomore at Notre Dame. 

She and her father received a standing ovation from the members of Congress as victors who fought and overcame a rare disease. Their story was also introduced in a book, “The Cure,” and a movie “Extraordinary Measures.”

In the development history of rare disease diagnosis and treatment, it is not uncommon to find cases where patients’ families such as the Crowleys achieved innovation. 

Another case is the story of Augusto and Michaela Odone, parents who search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD). In 1984, the Odones developed “Lorenzo’s oil” to alleviate their son’s symptoms. Lorenzo’s oil is still widely used to help ALD patients worldwide. 

The development and commercialization of next-generation DNA sequencing (NGS), which led to innovation in decoding the human genome, also began with a problem Jonathan Rothberg experienced when his second daughter, Noah, was born. Noah had to be sent to the neonatal intensive care unit because of breathing difficulties.

His daughter was highly likely to have a rare genetic disease because the breathing problem occurred at birth.

However, Rothberg was greatly disappointed that there was no method to quickly test whether it was a genetic disease. In 2007, he developed the first NGS genome decoder that can quickly diagnose rare diseases by reading the entire human genome at a reasonable cost.

Since the success of Rothberg, NGS genome decoding technology has developed rapidly to a level where the entire human genome can be analyzed for about $200 by 2023.

In other words, we are facing an era in which diseases caused by genetic abnormalities, such as genetic diseases and cancer, can be detected quickly and at an appropriate cost.

Although there are over 10,000 kinds of rare diseases, the numbers of patients suffering from each disease are small and it is not easy to find experts in that specific disease. Thus, families of rare disease patients create patient groups that support the diagnosis and treatment of each rare disease, share information, support research for therapy development, and even cooperate with pharmaceutical companies. 

Who works hardest, with affection, to help rare disease patients overcome the disease? It is the patient’s family. They are marking footprints in the history of innovation in diagnosis and treatment development because they are far more desperate than physicians or scientists to wish for their patient family to recover health as soon as possible and live a happy life. 

In the future, innovational cases achieved by rare disease patients’ families will be accumulated day by day because they are the ones who love rare disease patients the most and hope they could recover health quickly.  

This column was originally published in Korean in Korea Healthlog, a sister paper of Korea Biomedical Review. -- Ed.