Stories about: diagnosis

The diagnostic odyssey: Parents shed light on their experience

the diagnostic journey
Robert Salmon: Storm at sea (Wikimedia Commons)

Nikkola Carmichael, MS, CGC, is a parent and a genetic counselor in the adult genetics clinic at Brigham and Women’s Hospital. Her research was conducted as part of her master’s degree in genetic counseling in conjunction with colleagues at Boston Children’s Hospital.

When a parent or provider first becomes concerned about a child’s development, a diagnostic odyssey begins. It may be brief or can stretch for years as a child undergoes multiple procedures and medical appointments in the search for a diagnosis.

This is a challenging time for families. While learning to address their child’s health needs and fearing for the future, parents may have difficulty accessing support services due to the lack of a diagnosis. Against this backdrop of emotional turmoil, parents strive to support their child through medical procedures that can be painful or frightening.

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Personalized rational medicine for all

Electrospray needle of a mass spectrometer

As a medical student at the last century’s end, I was taught to practice evidence-based medicine, to use the scientific method instead of the largely anecdotal, experiential practice of the physicians that came before. At this century’s beginning, medicine has begun yet another tectonic shift, termed personalized medicine.

Striving to use information about individual patients to their own benefit is probably as old as medicine itself.

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