Patient Experiences
The McTigue Family: Silas’s Story
Carmon McTigue’s son Silas was born with Netherton Syndrome. At first, doctors couldn’t determine what was wrong, and the family was sent home without a diagnosis. They later received a misdiagnosis of a different skin condition, but still no clear treatment plan. It took seven months, consultations with dozens of specialists, and Carmon’s persistence to finally reach the correct diagnosis. With that came a difficult reality: there is no approved treatment or cure.
In his early years, Silas was hospitalized 15 to 20 times due to severe infections. He developed a resistance to oral antibiotics and eventually required IV medications after contracting MRSA. Still, Silas kept moving forward. This past year, he reached a new milestone by playing football for the first time. With extra precautions and a determined spirit, he showed that while Netherton Syndrome is part of his life, it does not define him.
Norma Coles: A Lifetime with Netherton Syndrome
Norma Coles, now 79 years old, lived most of her life without knowing she had Netherton Syndrome. She experienced unexplained symptoms including a persistent rash, brittle hair that broke easily, and skin that flared unpredictably. It wasn’t until her mid-50s that a dermatologist recognized the signs and gave her a diagnosis. Norma later discovered that she had unknowingly been the first documented patient in Dr. Netherton’s original case study in 1949.
While going through old family records, she found letters between her mother and Dr. Netherton, revealing that she had been evaluated as a child at the Cleveland Clinic. Her mother had even written a detailed account of Norma’s early development to help the doctor understand the unusual condition. Although her mother passed away before the diagnosis was confirmed, Norma often thinks of her and what it must have been like to care for a child with no clear answers. Today, Norma shares her story to raise awareness and help others better understand Netherton Syndrome.
Professor Jemima Mellerio: A Clinical Perspective on Pediatric Netherton Syndrome Patients
Professor Jemima Mellerio, Consultant Dermatologist at St John’s Institute of Dermatology at Guy’s and St Thomas’ NHS Foundation Trust and Honorary Chair of Paediatric Dermatology at King’s College London, has spent decades caring for children with Netherton Syndrome. She has seen how the disease can be life-threatening from birth, with newborns often presenting with red, fragile, peeling skin and persistent erythroderma. Many infants face “failure to thrive,” struggling to gain weight, grow properly, and maintain hydration due to high metabolic demands, protein loss, and recurrent infections.
For families, the daily care is relentless, involving constant bathing, moisturization, and infection prevention. For clinicians, the lack of targeted treatments has long been a source of frustration, with supportive care as the only option for decades. Today, Professor Mellerio sees hope in advancing research, with the potential to bring new therapies that could significantly improve the lives of children and families living with this devastating rare disease.
Mandy Aldwin-Easton: An Advocate Living With Netherton Syndrome
Mandy Aldwin-Easton has spent a lifetime navigating the relentless realities of Netherton Syndrome. Diagnosed after years of uncertainty and misdiagnosis, she has endured unpredictable flares, severe chronic pain, recurrent infections, and multiple hospitalizations that have shaped her daily life and long-term health. Despite the physical and emotional toll, Mandy transformed her experience into advocacy. She serves as Medical and Communications Manager and Co-founder of the UK-based Ichthyosis Support Group and is President of the European Network for Ichthyosis. Through her work, she highlights the misunderstood nature of the disease, the absence of approved treatments, and the urgent need for options that go beyond supportive care. Mandy’s story underscores both the resilience of patients and the critical importance of awareness, research, and community support for families living with Netherton Syndrome.