Patients living with: GM1 Gangliosidosis Type 2 Late Infantile

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 33 Ages: 4 to 54

Male
48% Male
Female
52% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

44% 2 - 6 times a year
22% 1 - 3 times per month

Major episodes of care

been admitted to hospital
42% been admitted to hospital
had surgery
33% had surgery
been to the ER
25% been to the ER

A combination of treatments

image description
None 33% Prescription medication 33% Over-the-counter supplements, vitamins, herbs, remedies 17%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Change in activity levels
  • Changes in mental status

Average age at diagnosis

Average Age at Diagnosis
3 Year(s) old
1 9
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Urine testsUrine tests
  • Physical examinationPhysical examination
  • MRIMRI

Different types of tests

Different Types of Tests
17

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

94% want to be contacted about trials

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