Living with Noonan Syndrome: Parents experiences of caring for a child with a rare genetic condition

The prevalence and complexity of Noonan Syndrome

Noonan Syndrome (NS) is one of the most prevalent and most complex rare genetic conditions. With an estimated prevalence of around 1 in 2000, NS falls just inside the bounds of conditions that are considered rare. In comparison to other rare conditions with similar prevalence rates, NS stands out as being the most complex, impacting up to 14 bodily systems.

Clinical presentation of NS is variable, although it is one of leading syndromic causes of congenital heart disease and is commonly associated with an array of comorbidities ranging from learning difficulties to renal and lymphatic anomalies, bleeding disorders, childhood cancer, distinctive facial features and short stature. Despite there being many families who live with NS, knowledge about the condition and how it impacts on daily life remains limited. Furthermore, the lack of understanding from a variety of professions including policymakers means that there is a lack of measures put in place to support those living with NS and their families.

Thus, NS provides a powerful example of lived experience of caring for a child with a rare genetic condition, while offering valuable insights into the wider realities of informal or family caregiving.

What our research has found

Loughborough University researchers conducted a mixed methods study involving an online survey of 67 families followed by in depth qualitative interviews with 18 parent-carers.

Analysis of the interviews generated themes around six core issues: diagnosis, care, reproductive decision -making, challenges, joy and support.

Diagnosis: Despite early signs of NS being visible in pregnancy and during the neonatal period, none of our participants were diagnosed at this time. Participants described two main scenarios: their child was either viewed as medical mystery or obtained diagnosis of multiple health issues without suggestions of an overarching cause.

Genetic diagnosis has a dual face; while it can provide much sought after answers, at the same time it can create additional uncertainty and worry about how this complex condition will manifest now and in the future. The time after diagnosis can be emotionally fraught as families contend with a wealth of complex medical and scientific information.

Care: Participants accounts demonstrate how the demands of caregiving for a medically complex child can come to dominate their everyday lives, especially during the early years of childhood. There is more care to fit into the day, and night. The need for pacing, slowing down, means that everyday tasks can take longer.

Medical appointments are numerous, and medical care is ongoing. Parents discussed the lack of suitable childcare, educational settings and social care provision for their medically complex child. The consequence of which is that that responsibilities for care can remain with parents across the life course.

Reproductive decision making: Family’s decisions about whether to have more children or not are based on a complex interplay of genetic, personal and emotional factors. Importantly, the child’s caregiving needs and parent’s desire to be good parents can leave them feeling like they do not have the time, physical, financial nor emotional resources to care for another child. Most were not fearful of having another child with NS, but worried about how they would cope practically with additional caregiving demands.

Challenges: The challenges families face can be significant, and include dealing with medical complexity, uncertainty and unpredictability. The hospital has a constant presence in their lives; with frequent visits and periods of prolonged in-patient stays becoming the norm. Emergency hospital admissions and traumatic medical experiences, such as surgeries and near-death experiences, are not a one-off experience but reoccur in a repeating cycle.

The repeated exposure to traumatic events takes a toll on caregiver mental health through their accumulation. Lack of coordination between different specialists’ places additional burdens on caregivers to make sure care their child receives comprehensive care. 

Joy: Despite the many challenges of living with NS, family’s stories are filled with joy and hope for the future. Living well with NS had five main elements: social connectedness, positive self- identity, stability, meaningful social relationships and inclusion and belonging.

Support: Social support is an important component of overall health and wellbeing. Focus on the medical management of the syndrome means that social and emotional support is lacking.

Recognition of support needs and access to practical support can feel like a battle for families when the impacts that NS can have on daily life are poorly understood or misunderstood. Our data highlight a dearth of avenues to access esteem support and few opportunities for social integration for children and their families. Disclosures of bullying were common, where children faced discrimination from peers at school due to differences in their appearance or behavior, which significantly impacted on their self-confidence and self-esteem. Many parents felt that educational professionals were not doing enough to ensure their child felt valued and competent within the educational setting. Difficulties balancing paid work and caregiving when met with inflexibility from employers can lead to parent carers leaving paid employment or reducing their working hours.

Parents frequently engage in individual and localised advocacy work to help raise awareness of NS. Although this work is important and can be effective at the local level, such initiatives need to be better co-ordinated and widespread for broader and more sustained impact.

Policy Recommendations

The Final Report has ten recommendations, categorised into four fields: healthcare, education, employment and policy. The full list of recommendations can be accessed in the Final Report, but this briefing paper will focus on the practical policy recommendations.

1. Co-ordinated and widespread advocacy activities for greater and sustained impact to build political momentum and raise awareness of NS in medical, educational and social work settings.

Public and political awareness of Noonan Syndrome is low and political momentum or supportive policies are lacking to ensure families receive the support they need.

2. Greater financial investment across medical, health and social services to reduce the burden of fighting for scarce resources felt by parent -carers.

Policy development designed to improve state support for families with rare genetic conditions like NS should encompass mental health, social care, education, employment and long- term care.

3. Provision and funding for access to respite services, days out, short breaks and the recognition that some families require term- time holidays.

Our findings point to the need for greater recognition of the repeated and cumulative emotional impacts that caregiving has carers. This accrues over time and can significantly impact on their mental and physical health and wellbeing.  Socially, they could be better recognition of the importance of family’s being able to enjoy time together to make joyful memories that counterbalance the challenges they face and help them live well with this rare genetic condition.