Conducted by researchers at Loughborough University, the study highlights key challenges families face and presents 10 recommendations (listed below) to improve support across healthcare, education, employment, and public awareness.
Noonan Syndrome is one of the most frequently occurring ‘rare’ genetic conditions and one of the most complex. It is linked to at least 14 gene variants and is one of leading syndromic causes of congenital heart disease.
How individuals are affected is variable, but it is commonly associated with a wide range of medical and psychological issues including learning difficulties, renal and lymphatic anomalies, bleeding disorders, childhood cancer, distinctive facial features, short stature, Autism and ADHD.
The new research included an online survey completed by 67 individuals and in-depth interviews with 18 parents of children with NS who shared insights into diagnosis, medical care, relationships, and the emotional and financial strains of caregiving.
Lead researcher Dr Katie Coveney said: “Around 1 in 2000 babies are born with Noonan Syndrome each year, yet one of the biggest challenges families still face is lack of awareness and understanding.
“Almost half of the parents in our study said that they ‘diagnosed’ their own child with NS before health professionals did.
“They felt unheard, ignored and alone and felt that they had to fight the system to get their child the medical care and educational support they need.
“The enduring and repeated nature of the medical and social challenges family’s face can have significant long-term impacts on parental mental health, in terms of stress, distress and potential for burnout and there are few places they can turn to for social and emotional support .”
Key Findings & Recommendations:
- Improved Healthcare Support – Families need better access to emotional and practical support following diagnosis. A dedicated liaison role in clinical genetics teams could help guide parents through available resources.
- Mental Health Considerations – Caregiving for a child with complex needs takes a significant emotional toll. More structured mental health support, including counselling, should be available to families.
- Better Coordination of Medical Care – Families experience frustration due to fragmented healthcare services. Greater continuity in care is needed to build trust and reduce stress.
- Educational Support – Many children with NS require tailored learning support. The study calls for the development of specific guidelines for teachers to better meet their needs.
- Easier Access to Educational Health and Care Plans (EHCPs) – Parents report the current EHCP process as overly complicated and stressful. The system requires reform to better assist families.
- Workplace Flexibility for Parent-Carers – Employers should offer formal policies such as paid carers’ leave and flexible working arrangements to help parents balance employment and caregiving.
- Greater Public and Political Awareness – Noonan Syndrome remains widely unknown, leading to a lack of targeted policies. Advocacy efforts must be strengthened.
- Financial Assistance Guidance – Families often struggle to find information on financial aid and support services, highlighting the need for better signposting.
- Recognition of Medical Trauma – Repeated hospital visits and medical procedures have lasting psychological effects. Hospitals should consider the unique needs of children with NS and their caregivers.
- Encouraging Positive Family Experiences – Beyond medical challenges, families need opportunities to create joyful memories and build fulfilling lives.
The study emphasizes that while Noonan Syndrome presents ongoing challenges, families can thrive with the right support.
This research serves as a call to action for policymakers, healthcare professionals, educators, and employers to foster greater understanding and implement meaningful changes to support families affected by rare genetic conditions.
Dr Coveney said: “Managing the medical issues associated Noonan Syndrome is just one aspect of living with this rare genetic condition.
“The stories families told us were full of joy, showing that despite the challenges they face, they can live well if they have the support they need.”
ENDS