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

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 22 Ages: 8 to >60

Male
41% Male
Female
59% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

36% 2 - 6 times a year
36% One time a year

Major episodes of care

been to the ER
62% been to the ER
been admitted to hospital
38% been admitted to hospital

A combination of treatments

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Over-the-counter supplements, vitamins, herbs, remedies 40% Prescription medication 33% None 20%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Weakness
  • Fatigue
  • Change in activity levels

Average age at diagnosis

Average Age at Diagnosis
31 Year(s) old
14 47
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests
12

Diagnosing specialty

  • Neurology
  • Genetics
  • Other type of doctor or healthcare provider

Patients everywhere are eager to help find better treatments

Better Treatments

91% want to be contacted about trials

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