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

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 42 Ages: 4 to >60

Male
52% Male
Female
38% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

36% 1 - 3 times per month
27% 2 - 6 times a year

Major episodes of care

been admitted to hospital
46% been admitted to hospital
been to the ER
35% been to the ER
had surgery
19% had surgery

A combination of treatments

image description
Prescription medication 35% Medical foods 19% Over-the-counter supplements, vitamins, herbs, remedies 19%

Getting diagnosed

Getting diagnosed

Initial symptoms

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

Average age at diagnosis

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

Extensive testing

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

Different types of tests

Different Types of Tests
12

Diagnosing specialty

  • Genetics
  • Neurology
  • Gastroenterology

Patients everywhere are eager to help find better treatments

Better Treatments

83% want to be contacted about trials

Brought to you by:

Want to learn more?

Explore Directory Contact Us