Patients living with: GNAO1 Variant

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 156 Ages: <1 to >60

Male
52% Male
Female
46% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

51% 2 - 6 times a year
18% 7 - 11 times a year

Major episodes of care

been admitted to hospital
45% been admitted to hospital
been to the ER
42% been to the ER
had surgery
13% had surgery

A combination of treatments

image description
Prescription medication 38% Special diet/nutrition 19% None 14%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Other
  • Gastrointestinal problems

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
<1 27
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
20

Diagnosing specialty

  • Genetics
  • Neurology
  • Pediatrics

Patients everywhere are eager to help find better treatments

Better Treatments

97% want to be contacted about trials

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