Blog

Through the Rare Project we introduce you to the people behind their rare conditions.

James

James is a sociable, determined little boy who loves attention. He has an infectious smile and is generally quite happy.  He likes people, going to school, music, all food, watching cbeebies, the IPAD and he has a mischievous sense of humour.  He doesn’t like not getting his own way, staying still, when anyone has a conversation not involving him and being confined to his wheelchair/chair which can make outings stressful.

James has Coffin Lowry Syndrome.  He has a severe learning difficulty and because he does not always understand why he needs to do everyday things, like getting dressed or brushing his teeth, he can have tantrums.  James is non verbal (although starting to learn a few words) and it can cause him to be frustrated when we don’t understand what he wants.  It is important that James has support at all times as he is unable to communicate when he is hungry, thirsty or needs changing.  He also has no awareness of danger so we have to be constantly vigilant.

Because he has low muscle tone he has only recently learned to crawl and has to rely on a wheelchair, which he finds frustrating.  We have to be very careful when feeding him as he risks choking and we also have to thicken any liquids.  James has to have frequent health checks to monitor for scoliosis, cardiac abnormalities and other health conditions associated with CLS.

James has development delay and so it is hard work for him to learn anything new.  It can take a long time to acquire a new skill and so each new achievement is something to celebrate. 

It can be difficult when people stare because James is in a wheelchair or they think he looks/sounds different.  I think we have been quite lucky so far because people are drawn to him because of his smiles and affection. 

I think we have been quite lucky so far because people are drawn to him because of his smiles and affection.

James is our little boy and all we want is that as he grows older he is accepted just the same as any other child would be.  He has so much to give and the world is definitely a better place with him in it. 

If people were just more aware of these conditions I think it would make them more accepting and comfortable around people with disabilities.  One day this could be their child or grandchild and wouldn’t they want them to have a happy and healthy life?

We found that because the syndrome is rare that many professionals hadn’t even heard of it and there was little support in the UK.  It is because of this we have recently started our own support group in the UK.  www.clsuk.org which has meant that last year we actually got to meet other families in the UK with a child with Coffin Lowry Syndrome which was an amazing experience and we have made friends for life.

We also received support as a family from CLIMB who provide advice and guidance on inherited metabolic diseases. http://www.climb.org.uk

Find out about some of the other children taking part in the Rare Project by clicking here and if you would like to take part please contact us.

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