Patients living with:
Cardio-Facio-Cutaneous syndrome (MEK 1 mutation)
Data highlights from the Invitae Patient Insights Network
Who are we?
Patients: 71 Ages: 2 to 49
Impact on our lives
Frequent doctor visits
48%
2 - 6 times a year
14%
1 - 3 times per month
Major episodes of care
43%
been admitted to hospital
A combination of treatments
Prescription medication 34%
Special diet/nutrition 20%
Over-the-counter supplements, vitamins, herbs, remedies 16%
Getting diagnosed
Initial symptoms
- Developmental delays
- Growth delay
- Gastrointestinal problems
Average age at diagnosis
<1
20
Youngest
AGE RANGE
Oldest
Patients everywhere are eager to help find better treatments
89% want to be contacted about trials
Brought to you by:
Genetic Testing
Blood tests
Physical examination
MRI
Echocardiogram
