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

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 50 Ages: 2 to >40

Male
88% Male
Female
6% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

78% 2 - 6 times a year
11% Less than once a year

Major episodes of care

been admitted to hospital
50% been admitted to hospital
been to the ER
46% been to the ER
had surgery
4% had surgery

A combination of treatments

image description
Over-the-counter supplements, vitamins, herbs, remedies 38% Special diet/nutrition 25% Medical foods 13%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Abnormal laboratory findings
  • Behavior problems

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
  • BiopsyBiopsy

Different types of tests

Different Types of Tests
9

Diagnosing specialty

  • Genetics
  • Metabolism
  • Neurology

Patients everywhere are eager to help find better treatments

Better Treatments

94% want to be contacted about trials

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