Precision Medicine Service | Patient Stories

Examples of types of patients

check markPaul is an 8-year-old who has had prior testing (including genetic testing) that was inconclusive. He has seen many specialists, but is searching for a diagnosis.

check markZhang Wei is a 10-year-old who has seizures and is deaf. His parents became concerned when his condition worsened and his doctors were not sure why. Zhang’s parents want to know why his condition got worse and learn about his treatment options. They are planning for a second child and want to know the chances that this child could also have the condition.

check markPriya is a 13-year-old who has developmental delays. Her diagnosis does not explain all of her symptoms. Priya has other biological family members with genetic diseases. Priya’s parents want a complete diagnosis to learn how to treat her symptoms.

check markAysha is a 5-year-old who was diagnosed after genetic testing. Her doctor said Aysha’s symptoms are unusual for her diagnosis. Her biological sister has similar symptoms. Aysha’s parents want to confirm her diagnosis and create a care plan.

x iconAlex had injuries resulting from a car accident. His parents want to know how to treat his injuries and if he has developed any other conditions.

How have our patients benefited?

cartoon of young boy wearing glasses

Meet Adam

Adam is a 6-year-old with neurodevelopmental regression and no family history of neurological disease.

He was seen by specialists at other hospitals with no definitive diagnosis.

After receiving whole exome sequencing at Boston Children’s Hospital, his clinicians diagnosed him with an x-linked neurological condition.

His clinicians also identified other biological family members as carriers of the disease, which enabled them to make informed decisions about future pregnancies.

cartoon of young girl wearing a flower headband

Meet Elijah

Elijah is a 7-year-old boy who could not seem to get over a cold.

With the help of genetic testing, he was diagnosed with aplastic anemia, a rare blood disorder that affects the immune system.

Initial treatment required him to stay many nights at the hospital but did not cure the condition.

Dana Farber/Boston Children’s experts determined that a bone marrow transplant was needed in order to cure his blood disorder.

Thanks to the transplant, Elijah regained his strength and was able to go back to school.

cartoon of little girl with pigtails

Meet Allison

Allison is a 6-year-old whose parents became worried after she started stumbling and experiencing loss of vision and speech.

Her symptoms suggested a particular neurometabolic condition, but genetic testing of all known relevant genes failed to establish the cause.

She underwent whole genome sequencing at Boston Children’s Hospital, where her team found her to have an unusual type of genetic variant.

With a genetic diagnosis in hand, she is now eligible for experimental trials.