An 18-year-old experienced symptoms of her rare disease from birth, but it wasn’t until 2020 that she got her diagnosis thanks to genomic medicine.
Summer Nagele is a typical teenager — excited about school, making plans for college, and hanging out with her friends. But Summer’s story is anything but typical. She’s one of the millions of people in the United States living with a rare disease.
The journey from when patients first experience symptoms to when they are diagnosed with a rare disease is often called the “diagnostic odyssey.” It can take years, even decades, for patients to find out the cause of their condition. However, it is usually found somewhere in their genetic code. A person’s genome contains 3 billion base pairs and accounts for all the genetic material in a person. A smaller portion of genome, called the exome, contains all the instructions for building proteins. While the exome is less than 2% of the total base pairs in the genome, it holds many of the clues needed to diagnose rare diseases.
Importantly, Summer’s physician, Dr. Anne Connolly, chief of Neurology at Nationwide Children’s Hospital, didn’t give up either. When Summer was 8 years old, Dr. Connolly promised to help her find a name for what she had. They continued their journey together, finding treatments that helped Summer’s symptoms, until 2020, when Dr.
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