Patients living with: eEF1A2 Interest Group

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 16 Ages: 2 to 60

44% Male
44% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 2 - 6 times a year
50% 7 - 11 times a year

Major episodes of care

been admitted to hospital
50% been admitted to hospital
been to the ER
38% been to the ER
had surgery
13% had surgery

A combination of treatments

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Prescription medication 50% Over-the-counter supplements, vitamins, herbs, remedies 25% Special diet/nutrition 25%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Other
  • Growth delay

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
1 11
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • Blood testsBlood tests
  • Family historyFamily history

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Neurology

Patients everywhere are eager to help find better treatments

Better Treatments

69% want to be contacted about trials

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