#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition.

Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized.

On This Episode We Discuss:

• Parenting a Child with Cockayne Syndrome:
  • Lack of carrier screening during IVF.
  • Genetic aspects and impact on DNA repair.
  • Different types of Cockayne Syndrome and their symptoms.
• Tailored Care for Ronan:
  • Importance of specific growth charts and dietary considerations.
  • Role of a supportive community and foundation efforts.
• Overlap with Other Disorders:
  • Similarities with other DNA repair disorders.
  • Importance of awareness and advocacy.
• Support and Encouragement:
  • Message to families and caregivers about community support.
  • Emphasis on shared experiences and advocacy.

Relevant Resources:

• Cockayne Syndrome Foundation
  • TikTok: @HopeForCS
  • Instagram: @HopeForCS
  • Facebook
• Cockayne Syndrome Page on MedlinePlus
• Trichothiodystrophy (TTD) on MedlinePlus
• Cockayne Syndrome: A Manual for Healthcare Providers
• Cockayne Syndrome: A Manual for Parents and Caregivers
• Growth Chart: Cockayne Syndrome Type 1 and Type 2
• The National Initiative for Cockayne Syndrome (NICS)
• Amy and Friends
• MRI Lego Set
• Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum)
• Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329.

Relevant DNA Today Podcast Episode:

#39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum)

#327 How Patient Advocacy is Changing Rare Disease Research

#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

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