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

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 289 Ages: <1 to 51

Male
45% Male
Female
51% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

30% 1 - 3 times per month
27% 2 - 6 times a year

Major episodes of care

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

A combination of treatments

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Prescription medication 33% Special diet/nutrition 23% Over-the-counter supplements, vitamins, herbs, remedies 20%

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 46
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Physical examinationPhysical examination
  • Medical historyMedical history
  • EchocardiogramEchocardiogram

Different types of tests

Different Types of Tests
19

Diagnosing specialty

  • Genetics
  • Neurology
  • Other type of doctor or healthcare provider

Patients everywhere are eager to help find better treatments

Better Treatments

88% want to be contacted about trials

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