JAMES

James has Coffin Lowry Syndrome. His family came to the studio to talk to us about their experience of his rare disease.

“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 however, nor staying still, nor when anyone has a conversation not involving him. Being confined to his wheelchair and chair can make outings particularly stressful.

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. He’s also 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’s important that we give him 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.

“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 (information below) which has meant that last year we actually got to meet other families in the UK with a child with Coffin Lowry Syndrome. It was an amazing experience and we have made friends for life”.

Because he has low muscle tone, James has only recently learned to crawl and relies on his wheelchair for mobility. 

“We have to be very careful when feeding him as he risks choking and we also have to thicken any liquids. He has to have frequent health checks to monitor for scoliosis, cardiac abnormalities and other health conditions associated with CLS”.

“It can be difficult when people stare because James is in a wheelchair or they think he looks or sounds different. 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”.

FIND OUT MORE

Coffin Lowry Syndrome

Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by changes (mutations) in the RPS6KA3 gene and is inherited in an X-linked dominant pattern. Males are usually more severely affected than females.

To learn more about Coffin Lowry Syndrome, click here.

Source: https://rarediseases.org/rare-diseases/coffin-lowry-syndrome/

Metabolic Support UK

James’ parents also told us they received support as a family from Metabolic Support UK who provide advice and guidance on inherited metabolic diseases. To find out more about how Metabolic Support UK can support you and your family, click here.

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