Matias has Cri du chat syndrome and is profoundly disabled. Over the years he’s had severe flu episodes and several infections. Matias, aged 10 goes to school and lives with his dad. He’s a really happy smiley boy and loves being around people.
Matias has Cri du Chat syndrome. Cri du Chat is a very rare genetic syndrome and only about 500 people in the UK have it. It affects both physical and intellectual development and affects people very differently across a broad spectrum. Damian says his son is profoundly disabled. Matias was diagnosed when he was 5 days old which Damian says is unusually quick to get an accurate diagnosis for such a rare disorder.
Matias cannot walk at all and he uses a standing frame and also likes to lie in his bed. He mainly communicates through smiles, other facial expressions and bodily movements or crying when he is unwell. Due to his limited mobility and lowered immunity he can be susceptible to infections. However, apart from recurrent ear infections, Matias is a very well child and has only had one severe episode of the flu. A typical cold episode for Matias is similar to that of anyone else’s, starting with a snotty nose and a croaky throat. He also tends to develop very high temperature. His parents want to avoid Matias having too many courses of antibiotics and only take him to the GP if his symptoms persist for a long time or are getting gradually worse. Matias is peg fed directly into his stomach, and Damian describes how this makes it very easy to give him antibiotics, paracetamol or keep him hydrated if he is ill.
Damian has a great relationship with the health care team that look after Matias, including the consultant, the GP surgery, the pharmacist and physio and speech therapists. This helps the communication with the family as well as treatment decisions in acute illness. As Cri du Chat is so rare, the health care professionals respect the knowledge and expertise that Matias parents have. Damian does a lot of research online into Cri du Chat is also a Trustee of the national support group. He says more health professionals are beginning to realise and respect the knowledge that parents have of their children’s needs.
Matias enjoys going to school and loves being around people. Damian describes the positive effect Matias has on those around him and how this gives emotional resilience to them both.