Our Story

On the 12th of May 2026, our whole world changed when we received our son's, Mateo (2 and a half years old), genetic test results. The paediatrician explained to us that Mateo has Rubinstein-Taybi Syndrome Type 2. RTS Type 2 is a ultra-rare genetic condition caused by a random change in the EP300 gene. It affects how a child grows and develops. We stumbled upon the RTS Support Group website, and the information and resources there helped us better understand RTS. The RTS Support Group provides support to families and carers of people affected by RTS, raise awareness of RTS amongst the medical community, and encourage and support research into the cause and effects of RTS. We were able to attend the RTS Support Group conference in June 2026 to learn more and meet other families who have children with RTS. RTS went from this mysterious condition that we felt alone in dealing with to being opened up to a support network with people sharing resources, experiences, support, and encouragement from families dealing with this everyday. The openness, support and care that every family we met at this event showed towards us left us feeling positive and ready for the challenges that lay ahead. Knowing that there are people either physically close or connected on the WhatsApp group has been a support structure that we are truly appreciative of. We have no clue what his future looks like and we know there will be good days and tough days ahead, but having this support network through RTS Support Group means we never have to go through this alone.

Mateo

Mateo is the friendliest and most caring two and a half year old around. Mateo lights up every room he enters with his smile, character and sense of humour. He loves to dance, sing, and get up to mischief with his older sister. Mateo is determined and strong-willed, and doesn't let anything stop him from getting involved. An experience that sums up Mateo's character is recently when he had to go to the hospital to have blood drawn for tests. Despite a massive needle being lodged into his arm and lots of crying, once this was over, Mateo was smiling, blowing kisses and saying "thank you" to the nurses. This really summarises his strong, kind and loving nature.

Chiltern Challenge 10km Run

I have signed up for the Chiltern Challenge 10km Run on Saturday 26 September 2026 with other people from the RTS Support Group. That sentence alone will make many people that know me laugh already as the words "running" and "Ivo" are not normally used together. My football teammates have never seen me cross the half way line in a game and I have probably never run more than a 5km in my life so this should be interesting! I have never done something like this before but I am doing this for Mateo who makes me so proud everyday and to give back to the RTS Support Group who have already provided us with so much hope and a network of support so that they can continue doing this for other families.

So please can I ask you to donate anything you are willing to give, even if it is just to make sure that I can't back out of this. You can then wake up on 26 September and have a laugh knowing that I will be cursing every step I run on my 10km run!