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      

 

 

 

 

 

Research                 

 

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.


 

 

 

 

 

 

 

 

 

About Me      

 

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

Michele Giblin

Phone: 0877937168

Email: syngap1roi@gmail.com