Cri du Chat:- Joel

When our son Joel was diagnosed with Cri Du Chat my husband and I gathered as much information as we could find on the syndrome. Some of the news was good, some not so good, but it gave us some idea of what to expect. From all of the information that we gathered, the most helpful and encouraging was the information on these pages –stories from parents who had all been through exactly the same thing as we now found ourselves going through. By sharing Joel’s story, we hope that we will be able to help others through this difficult period, to give them hope for their own child’s future, and give them a little glimpse into the life of a truly beautiful little boy.

Joel was born 4 weeks early, on 12 Feb. 2002, weighing only 1.63kg (3lb 10oz). He spent his first 3 weeks in hospital in the Special Care Unit, where, apart from his weight, he appeared to have no major problems – he was breathing well, feeding well, and he had this cute little cry that made him sound like a little lost kitten. It was during his hospital stay – at about 2 weeks old – that Joel was diagnosed with Cri Du Chat Syndrome. Factors such as his low birth weight, his simian creases on both hands, and of course his distinctive cat-like cry first alerted his doctors to the fact that he may have CDC, and chromosome testing confirmed their suspicions. Suddenly his cute little cry didn’t seem so cute anymore.

Initially the doctors only had a small amount of information on CDC to give us, but the phrase “moderate to severe mental retardation” is one I’ll never forget. In what should have been one of the happiest times of our lives, we had to learn to cope with this unexpected blow, and we spent a lot of time crying and asking the unanswerable “why?” We were devastated by Joel’s diagnosis, and we felt as if our whole world had come crashing down on us. Joel’s doctors and nurses were all very supportive and helped us get through this very difficult time. They encouraged us to focus not on what Joel can’t do because of his Cri Du Chat, but what he can do in spite of it – and we are very proud of what he has achieved so far.

Everything that we read about CDC stressed the importance of early intervention, so by about 6 months of age Joel was enrolled in and attending playgroup at our local Special Education Development Unit (SEDU). He has been seeing speech, physio, and occupational therapists since he was a little over one year old. Joel also has swimming lessons, not only for his own safety, but to help with his strength and coordination – and because he simply loves the water.