Who we are

In 2022, our family finally found an answer.

After years of trying to understand why, our eldest son, Henrique, was diagnosed at the age of 14 with SYNGAP1, a rare genetic disease we had not known about until then.

We knew Henrique had a developmental delay and features of the autism spectrum. For years, we looked for every way to help him grow, gain autonomy and discover his abilities — through occupational therapy, hippotherapy, music, sport and, above all, the small achievements and routines of everyday life.

Henrique has a lot of autonomy and, unlike most SYNGAP1 cases, he does not have epilepsy. He loves swimming at the beach and in the pool, bodyboarding, listening to music and serving as an acolyte at the chapel next to our house in Cascais. He attends a special school and the challenge ahead will be finding a job next year. He is a boy full of life, affectionate, fun and with a huge desire to take part in the world around him. But the diagnosis also brought a new reality: we realised we were not alone. In Portugal, other families were living with the same uncertainty, looking for answers, support and hope.

That is why we decided to act.

We created CURE SYNGAP1 Portugal to give families a voice, make SYNGAP1 better known, promote diagnosis, support those who receive this news and bring families, doctors and researchers closer together.

But we want to go further. We want to accelerate research, support the development of new treatments and contribute so that, one day, no family has to hear that there are no answers.

Working together with Cure SYNGAP1 in the US and other associations whose goal is to find a cure for SYNGAP1.

Henrique gave us a reason to start. SYNGAP1 families give us a reason to continue.

And we believe that, together, we can turn knowledge into hope — and hope into treatments and, one day, into a cure.

Henrique & Rita Simões de Almeida, Founders, Cure SYNGAP1 Portugal