Patients living with:
GM2 Tay-Sachs (Infantile Onset)
Data highlights from the Invitae Patient Insights Network
Who are we?
Patients: 42 Ages: 5 to >60
Impact on our lives
Frequent doctor visits
36%
1 - 3 times per month
27%
2 - 6 times a year
Major episodes of care
46%
been admitted to hospital
A combination of treatments
Prescription medication 35%
Medical foods 19%
Over-the-counter supplements, vitamins, herbs, remedies 19%
Getting diagnosed
Initial symptoms
- Developmental delays
- Other
- Change in activity levels
Average age at diagnosis
<1
4
Youngest
AGE RANGE
Oldest
Diagnosing specialty
- Genetics
- Neurology
- Gastroenterology
Patients everywhere are eager to help find better treatments
83% want to be contacted about trials
Brought to you by:
Genetic Testing
Blood tests
MRI
EEG (electroencephalogram, examines brain waves)
Physical examination
