Patients living with: GM1 Gangliosidosis Type 1 Infantile

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 98 Ages: 2 to >60

Male
47% Male
Female
49% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

30% 1 - 3 times per month
25% 1 or more times per week

Major episodes of care

been admitted to hospital
48% been admitted to hospital
been to the ER
38% been to the ER
had surgery
13% had surgery

A combination of treatments

image description
Prescription medication 35% Special diet/nutrition 21% None 15%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Change in activity levels
  • Changes in senses

Average age at diagnosis

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

Extensive testing

  • Blood testsBlood tests
  • Genetic TestingGenetic Testing
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • MRIMRI
  • Urine testsUrine tests

Different types of tests

Different Types of Tests
17

Diagnosing specialty

  • Genetics
  • Neurology
  • Pediatrics

Patients everywhere are eager to help find better treatments

Better Treatments

87% want to be contacted about trials

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