Patients living with: EEF1A2 Gene Variant

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 77 Ages: 2 to 55

Male
48% Male
Female
45% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

44% 2 - 6 times a year
20% 1 - 3 times per month

Major episodes of care

been admitted to hospital
50% been admitted to hospital
been to the ER
47% been to the ER
had surgery
3% had surgery

A combination of treatments

image description
Prescription medication 45% Special diet/nutrition 19% None 16%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Other
  • Behavior problems

Average age at diagnosis

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

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • MRIMRI
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • Physical examinationPhysical examination

Different types of tests

Different Types of Tests
17

Diagnosing specialty

  • Genetics
  • Neurology
  • Did not see a doctor or healthcare provider for this condition

Patients everywhere are eager to help find better treatments

Better Treatments

94% want to be contacted about trials

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