When we tell people Terri has rare genetic disorder and the name of the syndrome, people are often surprised and say something along the lines of "never heard of that before".
Well, that is because it isn't just rare, it is 2 in a Million.
Of all the children born in Europe and USA on average their will be around two children born with a form of Cockayne Syndrome (CS). So, no wonder the majority of the population has never heard of, or met anyone with the disorder. This could however be underestimated as the disorder is hard to diagnose from birth.
Unlike some disorders the syndrome does not favour one type of sufferer - it is as rare in all races, demographics and sexes - with the boy-to-girl ratio being equal.
A genetic study was carried out on 102 children with Cockayne Syndrome, all connected through Amy & Friends Cockayne Syndrome Support, to produce the most complete analysis of CS to date.
Some useful statistics taken from the study (in relation to the 102 participants): -
1. 84% of children suffered hearing loss by the age of 10.
2. 48.5% suffered with cataracts and photo-phobia (pain and discomfort due to light in the eyes).
3. Mean age of death is 8.4 years.
4. 64% of children suffered contractures (tightness of the muscles/tendons, mainly in legs).
5. Liver Enzymes were deranged (high) in 63% of children (that had been tested).
6. Poor circulation resulting in cold hands and feet was present in 88.4% of the children.
Although CS has been split into three different variants (described in previous blogs) it doesn't necessarily mean that these children will suffer the same, have the same ailments or live for the same amount of time - all children have a mix of different symptoms - making it hard to have an accurate representation of life expectancy and how each individual child will be effected.
There are on-going studies related to CS; not based on a cure, but instead on how to maximise their quality of life and provide more care and support for the families of those children.
This is often why, when it comes to accessing services, for both the sufferers and their families, services are limited and not always helpful, with Cockayne Syndrome not being fully understood.
Terri was one of the children used in the study above - my little 2 in a Million.
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