Patients living with: X-Linked Creatine Transporter Deficiency (CTD)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 164 Ages: 2 to >60

Male
82% Male
Female
15% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

63% 2 - 6 times a year
9% Unsure

Major episodes of care

been admitted to hospital
51% been admitted to hospital
been to the ER
45% been to the ER
had surgery
3% had surgery

A combination of treatments

image description
Over-the-counter supplements, vitamins, herbs, remedies 26% Prescription medication 22% Special diet/nutrition 19%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Behavior problems
  • Other

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
<1 19
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • MRIMRI
  • Urine testsUrine tests
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)

Different types of tests

Different Types of Tests
19

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

94% want to be contacted about trials

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