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.

DEVELOPMENT & MILESTONES:
Joel first sat up independently at 15 months, pulled to stand at 16 months, “cruised” holding on to furniture at 19 months, and started climbing onto the furniture at 20 months old. He “commando” crawled from about 1 year of age, and crawled properly at 18 months. We are still waiting for him to walk, which I’m sure isn’t too far off.

Joel’s speech is slowly improving, and he makes a few consonant sounds and tries to say the occasional word. We are trying to teach him Makaton, but he prefers to use his own signs, which are much easier. He’s very good at letting you know what he wants, even if he can’t say the words. He seems to understand a lot, and he follows commands and responds appropriately to what we say to him.          

Joel’s major problem has been his poor swallow. Since he was about 5 months old, he has suffered from frequent chest infections and pneumonia. A video swallow performed when he was about one year old, showed that he was aspirating small amounts of fluid, so now all of his fluids need to be thickened. He mainly uses a straw cup to drink. He still has a cough a lot of the time, and if he doesn’t concentrate when he’s drinking he seems to end up sick, but it’s not half as often or half as bad as it used to be. Joel still eats mainly mashed food, and doesn’t really show any interest in feeding himself with a spoon. He will hold and eat (extremely slowly) foods such as cheese and biscuits. He eats a fairly good amount, and at 2 years old he weighs about 11.5kg.

Joel shows some hypersensitivity to certain textures, but that doesn’t seem to stop him from putting everything he can find (including fluff, dirt and bugs) into his mouth. He has always been a fairly good sleeper, and has been sleeping through the night since he was a little over one year old. He keeps very busy during the day, and has more toys than we have room for. His little sister Lara (10 months old) is his best friend, but he loves playing with all other kids.

Joel is a happy and loving little boy who loves people, and loves to be the centre of everyone’s attention. He loves to laugh and make us laugh – with things like his “monkey face” and his “crazy-man dance”. He loves our dogs, going swimming, balls, balloons, ice cream, and the Teletubbies.  He hates the feel of grass. He rarely complains about anything, and just has a beautiful nature. He’s such a good little boy, and is adored by everyone who has the pleasure of knowing him. Of course there are still times when we think about what could have been, and what should have been, but we don’t dwell on this. We’re just so happy that he is a part of our lives – we love him, and he makes our lives complete.