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

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 11 Ages: 8 to 42

Male
45% Male
Female
55% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

33% 1 - 3 times per month
33% 1 or more times per week

Major episodes of care

had surgery
38% had surgery
been admitted to hospital
33% been admitted to hospital
been to the ER
29% been to the ER

A combination of treatments

image description
Prescription medication 33% Medical foods 17% None 17%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Growth delay
  • Developmental delays
  • Changes in appetite

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
1 15
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Medical historyMedical history
  • Physical examinationPhysical examination
  • CT scanCT scan

Different types of tests

Different Types of Tests
18

Diagnosing specialty

  • Genetics
  • Adolescent Medicine

Patients everywhere are eager to help find better treatments

Better Treatments

91% want to be contacted about trials

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