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

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 16 Ages: 7 to 42

Male
56% Male
Female
44% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

43% 2 - 6 times a year
29% 1 - 3 times per month

Major episodes of care

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

A combination of treatments

image description
Prescription medication 33% Medical foods 17% None 17%

Getting diagnosed

Getting diagnosed

Initial symptoms

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

Average age at diagnosis

Average Age at Diagnosis
4 Year(s) old
1 21
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests
9

Diagnosing specialty

  • Neurology
  • Genetics
  • Hematology

Patients everywhere are eager to help find better treatments

Better Treatments

94% want to be contacted about trials

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