Patients living with: Cardio-Facio-Cutaneous syndrome (MEK 2 mutation)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 27 Ages: 4 to 42

Male
44% Male
Female
52% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

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

Major episodes of care

been admitted to hospital
36% been admitted to hospital
had surgery
33% had surgery
been to the ER
30% been to the ER

A combination of treatments

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Prescription medication 35% Over-the-counter supplements, vitamins, herbs, remedies 29% Medical foods 12%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Gastrointestinal problems
  • Other
  • Growth delay

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
<1 38
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Physical examinationPhysical examination
  • EchocardiogramEchocardiogram
  • Prenatal testingPrenatal testing

Different types of tests

Different Types of Tests
16

Diagnosing specialty

  • Genetics

Patients everywhere are eager to help find better treatments

Better Treatments

96% want to be contacted about trials

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