Precision Medicine Service | Patient Stories

Examples of patients who could benefit from our precision medicine service:

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Paul is an 8-year-old who has had prior testing (including genetic testing) that was inconclusive.

He has seen many specialists, but none have found a cause for his condition.

Paul’s biological parents are related (cousins).

They are searching for a diagnosis.

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Zhang Wei

Zhang 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.

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Priya 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.

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Aysha 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.

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Alex 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?

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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 Shana

Shana is a 9-month-old who was diagnosed with diabetic ketoacidosis (a kind of diabetes) a few weeks after birth.

Initial treatment caused complications due to Shana's relatively small body size.

Boston Children’s Hospital provided genetic testing that revealed a gene variant confirming a new diagnosis of monogenic diabetes (diabetes that is caused by a genetic mutation).

The initial treatment was discontinued and she started a new oral medication.

The new medication controlled her blood sugar better and more consistently, without requiring injections. In addition, this type of diabetes has a much better long term outcome than the standard type, of great relief to Shana's parents.

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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.