Who we are

We are Henrique and Rita, parents of four children. Our eldest son, Henrique — Kike — was diagnosed with SYNGAP1 in 2022, at the age of 14, after many years in which we knew he had a developmental delay and features of the autism spectrum, but without knowing the real cause.

Throughout those years we always tried to help him develop his autonomy and abilities, through occupational therapy, hippotherapy, music, sport and many day-to-day routines. Fortunately, Kike does not have epilepsy and he is a boy full of life, affectionate and good-humoured.

It was in honour of Kike and of every family living with SYNGAP1 in Portugal that we created CURE SYNGAP1 Portugal. Our goal is to give greater visibility to this rare disease, support families, promote research and help find better treatments and, one day, a cure.

We also have a close connection to the international SYNGAP1 community and to Cure SYNGAP1 in the United States. In 2023 we took part with Mike Graglia in a conference in Orlando, reinforcing the importance of collaboration between families, researchers and organisations from different countries.