Patients living with: Noonan syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 278 Ages: 1 to >60

Male
46% Male
Female
52% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

40% 2 - 6 times a year
16% 7 - 11 times a year

Major episodes of care

been admitted to hospital
38% been admitted to hospital
had surgery
34% had surgery
been to the ER
27% been to the ER

A combination of treatments

image description
Prescription medication 35% None 19% Over-the-counter supplements, vitamins, herbs, remedies 18%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Growth delay
  • Other
  • Developmental delays

Average age at diagnosis

Average Age at Diagnosis
6 Year(s) old
<1 50
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Physical examinationPhysical examination
  • EchocardiogramEchocardiogram
  • EKG (electrocardiogram, examines heart rhythm)EKG (electrocardiogram, examines heart rhythm)

Different types of tests

Different Types of Tests
21

Diagnosing specialty

  • Genetics
  • Cardiology
  • Pediatrics

Patients everywhere are eager to help find better treatments

Better Treatments

89% want to be contacted about trials

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