Patients living with: Cardio-Facio-Cutaneous syndrome (MEK 1 mutation)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 68 Ages: 2 to 46

62% Male
37% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 2 - 6 times a year
14% 1 - 3 times per month

Major episodes of care

been admitted to hospital
42% been admitted to hospital
been to the ER
34% been to the ER
had surgery
24% had surgery

A combination of treatments

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Prescription medication 35% Special diet/nutrition 19% Over-the-counter supplements, vitamins, herbs, remedies 15%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Growth delay
  • Gastrointestinal problems

Average age at diagnosis

Average Age at Diagnosis
4 Year(s) old
<1 20
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Physical examinationPhysical examination
  • EchocardiogramEchocardiogram

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Neurology

Patients everywhere are eager to help find better treatments

Better Treatments

90% want to be contacted about trials

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