Welcome to the Republic of Ireland
SYNGAP1 Awareness Web Page
Effect of SYNGAP1 Mutations
De novo mutations in the SYNGAP1 gene have been found to cause SYNGAP1-related intellectual disability; with Epilepsy, Hypotonia and Speech Impairment in combination, being significant other symptoms.
SYNGAP1 is a Neurological disorder.
It is also a Genetic disorder as the genetic change which causes the disorder is known. This only identified since 2009.
A disorder is defined as ‘rare’ in Europe when it affects fewer than 1 in 2,000.
SYNGAP1 is considered both a Rare Disorder and a Rare Disease; these titles can be used interchangeably for the purposes of understanding.
There is currently no cure the SYNGAP1 rare disease, as researchers and clinicians are still trying to understand it’s underlying and intricate biology.
Be Informed and keep up to date
There are a number of organisations working on raising awareness for SYNGAP1 and doing great work on research. You will find details in your local Republic of Ireland Awareness Pack.
We will also be informed through research. It is hoped that specific and targeted research of the SYNGAP1 gene will lead to, among other things, improved early diagnosis techniques, and better precision treatments for the symptoms of SYNGAP1. It is our responsibility to participate in this Research, and to realise this aspiration.
Think Wide, Collaborate and Connect
There are common threads with other Rare Disease Patient Groups. The SYNGAP1 symptoms are shared with other rare diseases (example Angelman), even though the underlying genetic cause will differ. The defining moment of receiving news of a diagnosis is shared. The emotional care needs for parents, siblings, and carers are shared, along with all the ‘crystal ball’ questions. And ultimately, the Total Care Needs for our children, and the related challenges for solutions, are shared.
We will have strength and advantage in sharing experiences and forming friendships and alliances.
I am a mum of three children living in the Republic of Ireland, the youngest with a SYNGAP1 diagnosis, received in June 2016. I am building awareness of SYNGAP1 in the Republic of Ireland.
Contact – Local
Family Awareness Contact for the Republic of Ireland