Loughborough University researchers have spoken with more than 60 families from across the UK as part of a project that aims to better understand the social and emotional impact of living with Noonan Syndrome.
Research lead Dr Catherine Coveney says one of the main findings of the study, which is in collaboration with the Noonan Syndrome Association charity, is that there is a glaring lack of awareness of the condition – even among medical professionals.
“Despite increasing medical research, very often medical professionals involved in families’ care don't know much about Noonan Syndrome, if anything at all”, she said.
“Families have told us of experiences of poor support from professionals in their lives, lack of understanding about the realities of living with Noonan Syndrome, and difficulties in accessing care.
“This, coupled with the fact that teachers, social workers, family, and friends have never heard of the condition, can be really stressful for families as they feel like they are on their own.
“Noonan Syndrome is often referred to as the ‘the most common rare disorder that you have never heard of’, but we need to change that.”
What is Noonan Syndrome?
Despite being labelled as ‘rare’, Noonan Syndrome is estimated to affect between 1 in 2000 to 1 in 2500 births in the UK (the exact prevalence is unknown due to many people remaining undiagnosed).
For comparison, Down Syndrome, a wider known genetic condition, has an estimated prevalence of 1 in 1000 worldwide.
Noonan Syndrome causes a wide range of features and health problems, with the most common characteristics associated with condition being distinct facial features, short stature, and heart defects (such as congenital heart disease), which often require surgical treatment.
However, it is a highly variable condition. For some people, the impacts are mild, so much so, they may not know they have it. But for others, Noonan Syndrome can cause serious health issues that can be life-limiting.
Noonan Syndrome can be inherited (a 50:50 chance) if one or both parents carry an altered gene. It can also occur de novo (through spontaneous mutation of the gene), in which case the child can be the first in the family to have the syndrome. In some instances where the condition is inherited, parents may only discover they also have Noonan Syndrome after their child’s diagnosis.
A total of 67 families with varied experiences of Noonan Syndrome took part in the Loughborough University survey.
In addition to finding families struggle with a lack of awareness of the condition, another significant theme emerged from the survey responses: the social and emotional impacts of living with Noonan Syndrome are overlooked for both individuals and carers.
“For individuals with Noonan Syndrome, impaired mobility, pain, sleep disruptions, behavioural issues, learning difficulties, and mental health concerns significantly influence their ability to organise daily life, participate in social activities, and maintain relationships”, said Dr Coveney.
“Many say they feel excluded, isolated, and alone.”
She continued: “And this extends to the people that care for these individuals. Many families juggle managing multiple medical challenges, numerous clinic and hospital visits, and the day-to-day aspects of Noonan syndrome.
“The majority of parent carers in our study were not able to find paid employment that fits around their caring responsibilities, which can lead to financial pressures and stress. They also reported impacts of caring on their mental and physical health, and relationships.”
Dr Coveney and the Noonan Syndrome Association are calling for:
- Greater Noonan Syndrome awareness, especially among medical professionals
- Further research into the social and emotional impacts of living with the condition
- Enhanced support systems
- More social opportunities for individuals and families living with Noonan Syndrome
- Additional resources for education and awareness.
Dr Coveney and team – who are now building on the research by conducting in-depth interviews with families – are sharing their findings as part of a month-long social media campaign that aims to raise awareness of the genetic condition.
Individuals and families are sharing their experiences of Noonan Syndrome to support the online cause.
The social media awareness campaign by the Loughborough University researchers can be followed on Instagram (@livingwithnoonansyndrome_) and information on the Noonan Syndrome Association can be found on the charity’s website.
Dr Coveney and team have created an information sheet that summarises the findings of the research project, which viewed online.