The rare disease ribbon, courtesy of the advocacy group Global Genes.
Sally, over her short 6 years of life, has been hospitalized 15 times. She suffers from a strange constellation of medical problems: developmental delays, low muscle tone, a heart murmur, among others. Worried parents have taken Sally from doctor to doctor, trying to pinpoint what is wrong but only getting equivocal answers. For patients like Sally, their unusual sickness becomes a frustrating and heartbreaking odyssey. And even though Sally’s undiagnosed disorder is rare, her story of searching is not.
A rare disease is defined in the US as a disease affecting less than 200,000 Americans at any given time. There are nearly 7,000 such diseases affecting nearly 30 million Americans, which equates to 1 in 10 people. Of these rare diseases, over 80% have identified genetic roots, while few may be attributed to infections or environmental causes. And over 50% affect children like Sally.
There is a quote from Dr. Theodore Woodward that is often repeated in medicine which says “When you hear hoofbeats, think of horses not zebras.” This essentially means think common not rare; when giving a diagnosis for the cause of an illness, one should consider the common illness because it’s more likely. However, individuals with rare disease are the zebras of medicine. Doctors often misdiagnose these patients because their relatively common symptoms hide an underlying rare disease.
The delay in proper diagnoses leads to a delay in treatment. This means a severe loss in quality of life plagued by the chronic, progressive, degenerative and often life-threatening facets of their disease. Not to mention the financial burden of paying for frequent medical visits and hospitalization, test after fruitless test and wrong treatments.
Personalized medicine is curtailing the miserable process that can take months or years of the patient’s life. Modern sequencing gives a comprehensive approach to finding the answer. For Sally, her family, and many others like her, finding an answer means the world. In a single whole exome test, we are able to test for every genetic syndrome that’s known, and also explore for some that might not be defined. The ability to probe for rare and novel mutations has never been this simple. New Amsterdam Genomics leads these spectacular advances by making it easy for physicians to understand which gene is altered on an individual patient level, in the context of their clinical symptoms, and begin to think about ways to intervene. Our whole exome sequencing test has unparalleled diagnostic power for patients with rare disease. Our mission is to bring an end to the medical odyssey and keep hope alive.