Patients living with: Cardio-Facio-Cutaneous syndrome (Other mutation)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 13 Ages: 5 to 24

Male
31% Male
Female
69% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 1 - 3 times per month
25% Less than once a year

Major episodes of care

been admitted to hospital
42% been admitted to hospital
been to the ER
33% been to the ER
had surgery
25% had surgery

A combination of treatments

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Over-the-counter supplements, vitamins, herbs, remedies 38% Prescription medication 25% Medical foods 13%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Other
  • Growth delay

Average age at diagnosis

Average Age at Diagnosis
6 Year(s) old
1 17
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Physical examinationPhysical examination
  • CT scanCT scan
  • EchocardiogramEchocardiogram

Different types of tests

Different Types of Tests
9

Diagnosing specialty

  • Genetics

Patients everywhere are eager to help find better treatments

Better Treatments

100% want to be contacted about trials

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