Patients living with: GM1 Gangliosidosis Type 1 Infantile

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 18 Ages: <1 to 11

Male
39% Male
Female
50% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

33% 1 - 3 times per month
33% 1 or more times per week

Major episodes of care

been admitted to hospital
43% been admitted to hospital
been to the ER
38% been to the ER
had surgery
19% had surgery

A combination of treatments

image description
Prescription medication 38% Special diet/nutrition 38% Other 13%

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 2
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • Genetic TestingGenetic Testing
  • X-ray(s)X-ray(s)
  • EKG (electrocardiogram, examines heart rhythm)EKG (electrocardiogram, examines heart rhythm)

Different types of tests

Different Types of Tests
15

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

72% want to be contacted about trials

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