The story of Ben O’ Rourke
SINO syndrome is the syndrome of spastic paraplegia, intellectual disability, nystagmus, and obesity. It is an autosomal dominant rare disease with birth defects of cranial and maxillofacial deformity, severe intellectual disability, and obesity.
Ben O’ Rourke is about turnig 4 years old in March and was diagnosed with SINO Syndrome / KIDINS220 mutation in November 2021. He went through serious amounts of testing, evaluations, scans, etc. to be diagnosed. There is 27 known cases of this syndrome in the world and Ben is the only one in Ireland with this rare condition.
We are all still learning about this syndrome but we want your help to raise awareness for this rare condition and hopefully in the near future there will be more studies about SINO Syndrome.
We celebrated the first ever World SINO Syndrome / KIDINS 220 Awareness Day on February 25th.
Ben’s a little warrior and always has a smile on his face. This disease can effect people with the mutation in many different ways. For Ben he cannot walk without aid and can find it difficult to do tasks others may find simple. He has only recently began to talk and now he never stops!
Due to the rarity of SINO Syndrome, families that receive this diagnosis are often told they are alone. All families effected are now trying to raise awareness to show they are not alone!