Patients living with:
GM1 Gangliosidosis Type 2 Juvenile
Data highlights from the Invitae Patient Insights Network
Who are we?
Patients: 53 Ages: 4 to >60
Impact on our lives
Frequent doctor visits
53%
2 - 6 times a year
12%
1 - 3 times per month
Major episodes of care
50%
been admitted to hospital
A combination of treatments
Over-the-counter supplements, vitamins, herbs, remedies 32%
Prescription medication 32%
Special diet/nutrition 18%
Getting diagnosed
Initial symptoms
- Developmental delays
- Behavior problems
- Change in activity levels
Average age at diagnosis
1
12
Youngest
AGE RANGE
Oldest
Diagnosing specialty
- Genetics
- Neurology
- Metabolism
Patients everywhere are eager to help find better treatments
85% want to be contacted about trials
Brought to you by:
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Genetic Testing
Blood tests
MRI
EEG (electroencephalogram, examines brain waves)
Physical examination
