Patients living with: GM2 Sandhoff (Infantile Onset)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 19 Ages: 5 to 26

Male
32% Male
Female
63% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

78% 1 - 3 times per month
22% 2 - 6 times a year

Major episodes of care

been admitted to hospital
40% been admitted to hospital
been to the ER
35% been to the ER
had surgery
25% had surgery

A combination of treatments

image description
Prescription medication 35% Medical foods 20% Special diet/nutrition 20%

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 1
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests
8

Diagnosing specialty

  • Genetics
  • Neurology
  • Ophthalmology

Patients everywhere are eager to help find better treatments

Better Treatments

84% want to be contacted about trials

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