Patients living with: GM1 Gangliosidosis Type 2 Juvenile

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 15 Ages: 1 to 56

53% Male
40% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

100% Less than once a year

Major episodes of care

been admitted to hospital
40% been admitted to hospital
been to the ER
40% been to the ER
had surgery
20% had surgery

A combination of treatments

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Other 50% Over-the-counter supplements, vitamins, herbs, remedies 50%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Behavior problems
  • Change in activity levels

Average age at diagnosis

Average Age at Diagnosis
4 Year(s) old
1 10
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Neurology
  • Genetics
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

87% want to be contacted about trials

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