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

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 18 Ages: 2 to 54

50% Male
50% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 2 - 6 times a year
13% 1 - 3 times per month

Major episodes of care

been to the ER
58% been to the ER
been admitted to hospital
42% been admitted to hospital

A combination of treatments

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Over-the-counter supplements, vitamins, herbs, remedies 42% Prescription medication 42% None 8%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Weakness
  • Change in activity levels
  • Changes in mental status

Average age at diagnosis

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

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • BiopsyBiopsy
  • Family historyFamily history

Different types of tests

Different Types of Tests

Diagnosing specialty

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

Patients everywhere are eager to help find better treatments

Better Treatments

89% want to be contacted about trials

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