Syngap Republic of Ireland
My name is Michele Giblin and I am the Family Awareness Contact for SYNGAP1 in the Republic of Ireland. You can contact me at firstname.lastname@example.org.
On this website (www.syngapglobal.net) you will find a Republic of Ireland Awareness Pack as well as a SYNGAP1 Resource Guide.
My youngest daughter has a SYNGAP1 mutation and was diagnosed in June 2016. There are perhaps four diagnosed cases of SYNGAP1 in the Republic of Ireland, and recently I made contact with one family. We are hoping to meet up in the next six months.
I attended the Rare Disease Day (Ireland) Conference in Dublin in 2017, and this gave me a good understanding of how many rare diseases there are, and also how things work in relation to orphan drugs, and also about supports and structures within the EU and globally (eg. European reference Networks, Orphanet). I met some really helpful people.
Through IPPOSI (The Irish Platform for Patient Organisations, Science and Industry ), I also met great people who are advocates for their own rare disease organisations.
I also attended the ICIC Conference (International Conference on International Care) also held in Dublin in 2017. I learned a lot about the commonality of needs across all patients and families with diseases (rare or otherwise), and also age related diseases. This is an international conference held in May of each year.
All of these combined, enlightened me to the importance of making connections , thinking wide, and working collaboratively across the many organisations in Ireland and also beyond, who have common themes around rare diseases and total care needs.
I also work closely with my local intervention services and always look for opportunities to improve care outcomes for our special children.
I hope we can Connect Local and Collaborate Global to better enable our SYNGAP1 families.