Patients living with: GM1 Gangliosidosis Type 2 Juvenile

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 53 Ages: 3 to >60

Male
42% Male
Female
55% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

53% 2 - 6 times a year
12% 1 - 3 times per month

Major episodes of care

been admitted to hospital
50% been admitted to hospital
been to the ER
29% been to the ER
had surgery
21% had surgery

A combination of treatments

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Over-the-counter supplements, vitamins, herbs, remedies 32% Prescription medication 32% Special diet/nutrition 18%

Getting diagnosed

Getting diagnosed

Initial symptoms

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

Average age at diagnosis

Average Age at Diagnosis
6 Year(s) old
1 12
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
16

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

85% want to be contacted about trials

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