Patients living with: GM2 Tay-Sachs (Infantile Onset)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 32 Ages: <1 to >60

Male
53% Male
Female
38% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

43% 1 - 3 times per month
29% 7 - 11 times a year

Major episodes of care

been admitted to hospital
50% been admitted to hospital
been to the ER
40% been to the ER
had surgery
10% had surgery

A combination of treatments

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Prescription medication 40% Over-the-counter supplements, vitamins, herbs, remedies 27% Medical foods 20%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Change in activity levels
  • Other

Average age at diagnosis

Average Age at Diagnosis
1 Year(s) old
1 4
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests
11

Diagnosing specialty

  • Genetics
  • Neurology
  • Ophthalmology

Patients everywhere are eager to help find better treatments

Better Treatments

81% want to be contacted about trials

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