Warning: get ready for some medical details to help you understand the extent of special needs we’re dealing with.
The Cri du Chat syndrome, also known as 5p- (5p minus) syndrome, is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 5. It is characterised by a distinctive high-pitched cry in infants, which is how the disorder gets its name (Cri du Chat translates to “cry of the cat” in French). The syndrome affects 1 in 20,000 to 50,000 live births.
The size of the deletion can vary from person to person, resulting in a wide range of symptoms and severity. This particular fact escaped me when I started googling it. You can’t imagine the first days I started learning about the condition. Only as I dug deeper into the research did I realise that the early studies generally underrepresented children’s development potential. I spent quite some time understanding how severe the condition can be.
It was also funny that all the paediatricians (all six we saw) never detected the syndrome. It was only when we visited a paediatric physiotherapist, and on the second visit – six weeks after an accident where she broke her hand – that she raised the question of having a closer look at the floppy limbs and some of the other symptoms we had. She suggested we visit a neurologist.
Common features of Cri du Chat include intellectual disability, delayed development, small head size, and distinctive facial characteristics such as a round face, wide-set eyes, and a small jaw. The minute the specialist saw our son – he was just over a year old by this time – he immediately ordered a blood test. What did I know? This was my first child, and I didn’t know what “normal” was supposed to be.
As parents, always trust your gut feeling! No matter what friends and family say to soothe your suspicions, I found it helpful to find out as soon as we did. We needed to prepare for what came next. Dealing with Cri du Chat has to be tailored to the individual. For us, this started with physical, speech, and behavioural therapy. Later on, we had to add occupational therapy and special education services.
The support of family and professionals is crucial for children with Cri du Chat to reach their full potential. That means what happens in the therapy room must be brought as much as possible into the home. We found ourselves building stools and steps for Alisander to practice what he did in physical therapy at home as well. Was it worth it? He went from dragging his body using his elbows to crawling on his knees very slowly. Today, he walks, even if it’s off-balanced when tired.
