September 12, 2023
WoEgypt

Dr. Catherine Coveney is a distinguished medical sociologist renowned for her expertise in exploring the social and ethical aspects of medicine and healthcare. With a particular interest in the sociology of sleep, medical technology, and disability. She has dedicated her career to unravelling the complexities of health-related issues from a social perspective.

Currently serving as the School of Social Sciences and Humanities Ethics Lead and Criminology, Sociology, and Social Policy Lead Admissions Officer, Katie has held a senior lecturer position in Sociology at Loughborough University since 2018. Throughout her academic journey, she has made significant contributions to the field, including her previous role as the co-convener of the British Sociological Association Medical Sociology Group from 2019 to 2021.

Noonan Syndrome is a genetic disorder that can lead to a wide range of physical and developmental issues. It can affect the heart, growth, and intellectual development of individuals, and its symptoms vary from person to person. Early diagnosis and intervention are crucial for improving the quality of life for individuals with Noonan Syndrome.

WoEgypt: Can you start by giving us a quick rundown of Noonan’s syndrome and what makes it different from other genetic conditions?

Catherine Coveney: Noonan syndrome is a genetic condition that can impact on various systems of the body, commonly people have congenital heart disease, short stature, slow growth and ptosis (drooping eyelids) as well as mild learning difficulties and disabilities. There are lots of other health and social problems associated with NS too, including hearing issues, delayed development, problems with eating and growth, lymphatic system, immune system, specific types of childhood cancer, blood clotting disorders, pain and joint hypermobility – the list goes on.  Like other syndromes, not everyone with NS will experience everything in this list, and some people might be only mildly impacted where others could have much more serious health issues that are life limiting.

What is different about NS is that, despite how ‘common’ it is compared to other ‘rare diseases’ it is relatively unknown – even among doctors and other health professionals. 

WoEgypt: What got you interested in looking into how Noonan’s syndrome affects people’s lives and families? What made you think there were things we didn’t know about this?

CC: Noonan Syndrome is sometimes referred to as ‘the most common rare disorder that you have probably never heard of’ – when families get a genetic diagnosis of NS this is often the first time they have heard of it, it can lead to a lot of questions and uncertainty about what it means for their child and worry about what the future will hold for them. 

With advances in genetic technologies and diagnostics, it also means that some people are being diagnosed with NS as adults, usually after a having a child who is diagnosed with NS. Not much is known about how NS impacts on people in adulthood, as most of the limited research to date has been on children with the condition, so this is something we are keen to find out more about too.

WoEgypt: Can you tell us some stories or examples of how Noonan’s syndrome impacts the lives of people and their families? What are the tough parts they go through?

CC: Caring for a child with a multi-system syndrome like NS means juggling complex medical, social, educational, and emotional needs. Parents explained how their days were dominated by taking their child to frequent medical appointments, especially throughout their early years, organising medical care, administering various medicines and other therapies (including speech and language therapy, physiotherapy, occupational therapy exercises) at home, preparing special diets, and assisting with personal care. In addition, they spent a lot of time researching their child’s various health conditions and symptoms, advocating for them, teaching, and guiding them, helping them to build friendships, as well as playing with them, nurturing them, listening to them, and loving them. 

One of the strongest themes in our data was how difficult families found it to juggle medical, educational, social and emotional needs. Medical appointments, therapies, surgeries and treatments can be overwhelming, particularly in the early years. One of our participants, Jenny, referred to these as ‘the dark days’ where every moment was difficult, her baby daughter was crying as if she was in pain all the time, having seizures, struggling to feed, not putting weight on and failing to thrive, she vomited a lot, and had severe reflux that affected her sleep. She was a very unhappy child. Lisa says these were the worst days of her life, medical professionals were saying they were doing everything they could but Lisa felt constantly worried and helpless.

Another tough aspect of this is how the impact of caring for a child with NS often goes unrecognised. For example, the majority of parent carers in our study were not able to find paid employment that fit in around their caring responsibilities which can lead to financial pressures. They also reported impacts of caring on their mental and physical health (stress, lack of sleep, anxiety, depression, worry, burnout) and on relationships (some were able to build strong close relationships with family/friends but many others felt isolated, reported relationship breakdowns, felt alone). 

WoEgypt: How do people around us think about conditions like Noonan’s syndrome? Does this affect how families feel and what they do?

CC: Very often families find that medical professionals involved in their care don’t know much about Noonan Syndrome. Not to mention, teachers, social workers, families and friends who more often than not, haven’t ever heard of it. This can be really stressful and isolating. Many people feel like they are navigating this condition alone without adequate social and emotional support.

67 families took part in our survey, and many recounted issues of bullying and feeling socially isolated. One of our anonymous survey respondents said: “We have very little community support […] We feel afraid to share or son’s diagnosis publicly due to the fear of future discrimination he may face. It’s lonely being the only one we know of in our area, and one with pretty severe symptoms.” Respondent 50.

WoEgypt: In your research, What could help these families in dealing with Noonan’s syndrome? Like, are there things that make them feel better or more supported?

CC: There were a few things our participants mentioned including:

1. Better understanding of NS from medical professionals, teachers and other professionals involved in care, this would help people feel more understood and supported
2. Opportunities to connect with others living with NS who understand the challenges and can empathize with them
3. Spaces for community building and inclusion, where parent carers and individuals with NS can feel accepted and go for support
4. Better co-ordination of health care that takes a more joined up approach to see the whole person rather than specific aspects of medical care 
5. More resources for families to access and share with others, including information about NS, help with planning for the future, respite facilities and counselling

WoEgypt: Your research talks about how Noonan’s syndrome affects the choices families make about having kids. Can you tell us a bit more about how this works? How does all this new technology change how families think about having kids when Noonan’s syndrome might be a risk?

CC: Living with rare genetic disease inevitably raises the question of whether, and how to proceed with further pregnancies. Parents of disabled children are among those most likely to encounter reproductive technologies during subsequent pregnancies as they are regarded as being ‘at risk’ of disability. 

Reprogenetics is a term used to describe the combination of genetic tools and reproductive technologies such as IVF, pre-implantation genetic diagnosis, embryo selection and gamete donation.  As reprogenetic technology becomes more widespread and available, parents must contend with complex genetic information, and make decisions often based on risk factors with uncertain outcomes.

For many of our participants, their child’s diagnosis of Noonan Syndrome had a substantial impact on their future reproductive decisions. Parents typically had some awareness of the reprotech available to them, should they decide to have another child, including genetic testing, engagement with reproductive technologies (IVF, embryo selection) and genetic screening during pregnancy. 

However, these technologies carry with them assumptions that a life with disability is negative, burdensome, tragic, and limiting. We found that the majority of families in our study did not view future disability as a ‘risk’ and did not want to use reprotech to select against a future child with NS.

Instead, future reproductive decisions were shaped by whether the family had the emotional, financial, physical, and temporal resources to care for another child.

Genetic testing can be an important aspect of parents quest for knowledge in the face of uncertainty and a mechanism to help parents feel prepared for the future, giving them more time to come to terms with their child’s diagnosis and make arrangements for their future care.

WoEgypt: Finally, how do you envision the broader impact of your research on both academic discussions and the lives of those affected by Noonan’s syndrome?

CC: In doing this research we want to raise awareness of NS, but also to find out more the challenges families face and how they can be better supported.

WoEgypt: What could change in the rules or plans based on what you found in your research? Like, what could doctors or others do differently because of what you’ve learned?

CC: Raising awareness of NS is a big issue, hopefully if more doctors have heard about NS they will be able to recognise it more quickly, and also gain a better awareness of how NS impacts on the individual and their family. 

WoEgypt: Are there any cool projects or new stuff coming from what you’ve learned about Noonan’s syndrome? What are you excited to learn more about?

CC: We are excited to learn more about the impacts of living with this rare genetic condition in adulthood and the particular challenges adults with NS face as very little is know about this.

We are also working on a paper looking at the impacts of caring on parent -carers, this is something that deserves much wider recognition and understand, and thinking about how families can be better supported. 

WoEgypt: What advice would you offer to individuals and families navigating the challenges posed by Noonan’s syndrome, based on the insights you’ve gained through your research, and on what you learned from your research?

CC: You are not alone and you don’t have to deal with this on your own – there are many other families going through the same issues as you.

Diagnosis is just the first step and living with a rare genetic condition can be really challenging, but families living with NS can and do have good, fulfilling and joyful lives if they have the support they need.

There are places you can go for social and emotional support, including the Noonan Syndrome Association in the UK and online communities, some popular and active international facebook groups include Noonan Syndrome Family Fun and RASopathies Family (Formerly Noonan Syndrome Family). 

WoEgypt: Last one: What do you think your research can do? Like, how could it help people understand Noonan’s syndrome better and make things better for families going through it?

CC: Raising awareness is a key issue, if more people know about NS and come to understand it better, live for families with NS will be less stressful, people with NS will feel less isolated and alone and more confident that they will be supported to live their best lives in the future. It will hopefully also lead to a reduction in stigma and less discrimination and bullying of those perceived to be different.

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