About CS and TTD
Many parents with kids who have Cockayne syndrome (CS) or Trichothiodystrophy (TTD) never hear about CS or TTD until their child starts getting evaluated. Receiving confirmation of CS or TTD diagnosis is life changing. It marks the end of a life imagined and the beginning of a beautiful new reality.
The grieving process will be different for everyone. Some people grieve by jumping into learning everything about CS or TTD as much as possible. Others may feel a desire to forget about it and simply go on with life. Whatever the feelings may be, they are valid.
Our advice to families like ours is to give yourself some grace. Eventually, you will be able to learn about the diagnosis and you can actively help your child –or children– live their best lives.
Both Cockayne syndrome (CS) and Trichothiodystrophy (TTD) are rare genetic disorders associated with defects in DNA repair that fall under a more involved array of disorders called Excision Repair Cross-Complementation Disorders. The table below will give you a broad overview so that you can be more prepared and educated when you meet and work with your child’s healthcare team. See resources for more information
Cockayne Syndrome (CS)
Genes Involved: ERCC6 (CSB), ERCC8 (CSA)
Key Feature: Growth failure, premature aging, photosensitivity, progressive neurological decline
Emergency Care Considerations: Respiratory distress, feeding tube issues, seizures
Trichothiodystrophy (TTD)
Genes Involved: ERCC2 (XPD), ERCC3 (XPB), GTF2H5
Key Features: Brittle hair, developmental delay, photosensitivity (in some cases)
Emergency Care Considerations: Sensitivity to UV light, infection management
Xeroderma Pigmentosum (XP)
Genes Involved: ERCC2 (XPD), ERCC3 (XPB), ERCC4 (XPF), ERCC5 (XPG)
Key Features: Extreme UV sensitivity, high cancer risk, possible neurological decline
Emergency Care Considerations: Skin protection, managing cancer-related emergencies
XP/CS Complex
Genes Involved: ERCC2 (XPD), ERCC5 (XPG)
Key Features: Features of both XP and CS, including neurological issues
Emergency Care Considerations: Combination of CS and XP considerations
COFS Syndrome
Genes Involved: ERCC6 (CSB), ERCC8 (CSA), ERCC2 (XPD)
Key Features: Severe prenatal onset, microcephaly, skeletal abnormalities
Emergency Care Considerations: Severe developmental challenges, airway management
Disclaimer: All content found herein was created for informational purposes only. Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.