WHAT IS DOWN’S SYNDROME?
Down’s syndrome (DS) is one of the most commonly occurring chromosomal conditions and has occurred in all stages of history, and across all nationalities, races and religions. Around 750 babies are born with the condition in the UK every year and thanks to medical advances and a more inclusive society, people with DS are living lives that are as happy and fulfilled as the general population.
DS is down to one small genetic difference. While a typical person has 23 pairs of chromosomes, an individual with DS will have three copies of chromosome 21 in every single one of their cells.
There are three types of DS:-
- Trisomy 21 – 95% of cases, an extra chromosome 21 in all cells
- Translocation DS – 3-4% of cases, part or all of an extra chromosome 21 attaches itself to another chromosome
- Mosaic DS – 1-2% of cases, only some of the cells have the extra chromosome
Why does DS occur?
DS occurs completely at random. In most cases, it is not inherited from a parent and neither is it caused by anything a parent did before conception or during pregnancy. While the chances of having a baby with DS increase with the parental age, most babies with the condition are actually born to younger mums with the average age of having a baby with DS being 29.
How does DS affect the individual?
All people with DS will experience a learning disability to some degree, although with the right support most will achieve all the major childhood milestones and thrive. Certainly, having a learning disability does not mean that a person won’t learn, it just means that they might need some extra time to practise and a little extra support.
Many people with DS will also share some physical characteristics – beautiful almond shaped eyes, a single crease on their palm, a sandal toe and smaller stature, however, these individuals will always look more like their family than someone else with DS and are all utterly unique in terms of their appearance, personality and traits.
Health needs
Thanks to several factors, including better understanding of the medical conditions involved, an advancement in heart surgery and more social inclusion, the health of individuals with DS has never been better and the life expectancy for people with the condition has risen dramatically since 1983.
Some people with DS will have no additional health needs, while others may have some extra challenges due to:-
- Heart defects – many congenital heart issues will resolve on their own, while some will require surgery
- Sleep apnoea
- Issues with vision
- Issues with hearing
- Gastrointestinal problems such as duodenal atresia. People with DS are also more likely than the general population to have Hirschsprung’s Disease and Coeliac Disease
- Thyroid issues
Around 16% of children with DS will have dual diagnosis with autism.
Happily, with the right treatment, support and therapies, these health challenges need not impact on the quality of an individual’s life.
Modern day life with DS
The opportunities and expectations for the lives of people with DS have never been as high. We no longer think of people ‘suffering’ with DS, instead they are thriving and with the right level of support and help, they can live their best lives. Certainly, there is no reason why people with DS can’t go to college, live independently, work, have relationships or get married.
That said, with shrinking resources and an ever-stretched NHS and education system, getting the right level of support is not always easy and DS groups play an enormous role in supporting families through their journey and advocating for the services required.
For further information about DS support in Rochdale, find Rochdale DS All Stars on Facebook and Instagram, email emma@rdsallstars.co.uk or call 07736 116194.
This information was collated from resources provided by Down Syndrome UK/ PADS, the Down’s Syndrome Association and the NHS