Patients living with: Cardio-Facio-Cutaneous syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 114 Ages: <1 to >60

46% Male
53% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

33% 2 - 6 times a year
30% 1 - 3 times per month

Major episodes of care

been admitted to hospital
39% been admitted to hospital
been to the ER
31% been to the ER
had surgery
30% had surgery

A combination of treatments

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Prescription medication 43% Special diet/nutrition 20% Over-the-counter supplements, vitamins, herbs, remedies 18%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Growth delay
  • Gastrointestinal problems

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
<1 >60
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

Diagnosing specialty

  • Genetics
  • Cardiology
  • Developmental/Behavioral Specialist

Patients everywhere are eager to help find better treatments

Better Treatments

92% want to be contacted about trials

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