Patients living with: GNAO1 Variant

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 64 Ages: 1 to >60

Male
56% Male
Female
44% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

58% 2 - 6 times a year
21% 7 - 11 times a year

Major episodes of care

been to the ER
43% been to the ER
been admitted to hospital
40% been admitted to hospital
had surgery
17% had surgery

A combination of treatments

image description
Prescription medication 39% Special diet/nutrition 15% None 12%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Other
  • Gastrointestinal problems

Average age at diagnosis

Average Age at Diagnosis
7 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)
  • Medical historyMedical history

Different types of tests

Different Types of Tests
20

Diagnosing specialty

  • Genetics
  • Neurology
  • Endocrinology

Patients everywhere are eager to help find better treatments

Better Treatments

97% want to be contacted about trials

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