Living with Noonan Syndrome: Report of an online survey

This research focuses on the daily realities of living with disability and chronic illness, from the perspective of those whose lives are affected by Noonan Syndrome (NS). NS has an estimated prevalence of 1:1000 to 1:2500 live births. Despite this, it is still sometimes referred to as ‘the most com...

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Main Authors:	Katie Coveney, Imogen Lambert
Format:	Default Report
Published:	2023
Subjects:	Patient experiences Rare genetic disease Noonan Syndrome Social and emotional support
Online Access:	https://hdl.handle.net/2134/22361122.v1
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id	rr-article-22361122
record_format	Figshare
spelling	rr-article-223611222023-03-30T00:00:00Z Living with Noonan Syndrome: Report of an online survey Katie Coveney (5804705) Imogen Lambert (14860885) Patient experiences Rare genetic disease Noonan Syndrome Social and emotional support This research focuses on the daily realities of living with disability and chronic illness, from the perspective of those whose lives are affected by Noonan Syndrome (NS). NS has an estimated prevalence of 1:1000 to 1:2500 live births. Despite this, it is still sometimes referred to as ‘the most common rare disorder that you have never heard of’. This is something The Noonan Syndrome Association (NSA) are keen to change. They currently support around 600 families living with NS in the UK, providing vital information and a much needed, and valued, network of support for individuals and families. However, the information the organisation provides currently focuses predominantly on medical features of NS as there is little research, to date, into the social and emotional aspects of living with NS for individuals and their families. The overarching aim of this study is to explore families lived experiences of Noonan Syndrome, focusing on perceptions and experiences of social and emotional support, and centering the voices and experience of disabled people and their families in the production of knowledge. 2023-03-30T00:00:00Z Text Report 2134/22361122.v1 https://figshare.com/articles/report/Living_with_Noonan_Syndrome_Report_of_an_online_survey/22361122 CC BY-NC-ND 4.0
institution	Loughborough University
collection	Figshare
topic	Patient experiences Rare genetic disease Noonan Syndrome Social and emotional support
spellingShingle	Patient experiences Rare genetic disease Noonan Syndrome Social and emotional support Katie Coveney Imogen Lambert Living with Noonan Syndrome: Report of an online survey
description	This research focuses on the daily realities of living with disability and chronic illness, from the perspective of those whose lives are affected by Noonan Syndrome (NS). NS has an estimated prevalence of 1:1000 to 1:2500 live births. Despite this, it is still sometimes referred to as ‘the most common rare disorder that you have never heard of’. This is something The Noonan Syndrome Association (NSA) are keen to change. They currently support around 600 families living with NS in the UK, providing vital information and a much needed, and valued, network of support for individuals and families. However, the information the organisation provides currently focuses predominantly on medical features of NS as there is little research, to date, into the social and emotional aspects of living with NS for individuals and their families. The overarching aim of this study is to explore families lived experiences of Noonan Syndrome, focusing on perceptions and experiences of social and emotional support, and centering the voices and experience of disabled people and their families in the production of knowledge.
format	Default Report
author	Katie Coveney Imogen Lambert
author_facet	Katie Coveney Imogen Lambert
author_sort	Katie Coveney (5804705)
title	Living with Noonan Syndrome: Report of an online survey
title_short	Living with Noonan Syndrome: Report of an online survey
title_full	Living with Noonan Syndrome: Report of an online survey
title_fullStr	Living with Noonan Syndrome: Report of an online survey
title_full_unstemmed	Living with Noonan Syndrome: Report of an online survey
title_sort	living with noonan syndrome: report of an online survey
publishDate	2023
url	https://hdl.handle.net/2134/22361122.v1
_version_	1797456895505596416

Living with Noonan Syndrome: Report of an online survey

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