Cutting-edge research about a rare genetic disorder, combined with personal stories about people coping with it, will feature at an international health science conference in Dublin this week.
The Velo-Cardio-Facial Syndrome 20th International Conference is being hosted by the 22q11 Ireland Support Group - so named as 90 per cent of people with this syndrome are missing a small part of their chromosome 22 at the q11 region.
About 30 individual genes are affected and this results in developmental defects throughout the body.
At least 20 to 25 babies are born with the syndrome in Ireland each year, although it may not be picked up unless a significant heart defect is involved.
Anne Lawlor, whose daughter Áine (30) was diagnosed with 22q deletion syndrome at the age of 15, has been the driving force in bringing this conference to Dublin.
When they first went to this international conference in Strasbourg eight years ago, it was a life-changing experience for both of them.
“As a mother I had no idea of what I had been dealing with all along and for Áine it was the first step on the road to self-acceptance for who she was and why she was the way she was,” says Anne.
On their return, Anne set up the Irish support group, which started with three families and now has 114 families.
“There is no designated centre for rare and genetic disorders in Ireland,” she explains, “neither is there a 22q11 designated clinic at any of our hospitals, which basically means that care is fragmented and the level of awareness stays low because professionals are not seeing enough children to build up a syndrome symptom/treatment knowledge base.”
The conference runs from Thursday to Sunday. For more details see 22q11ireland.org.
