“But the first, most important thing I want you to always remember: everyone with DS is a new and different person and it isn’t the most important thing about them!” — Can I Tell You About Down Syndrome? Elizabeth Elliott, 2016
Everyone who finds himself or herself on this page will have had different journeys and we want to place a thought at the forefront of this section — that each person with DS is a unique and amazing individual, as are those without DS. We will discuss the medical difficulties people with DS might encounter but this will never define them, as your difficulties do not define you.
What is Down's Syndrome?
Down’s syndrome (DS) is caused by having an extra chromosome in all the cells of your body. Inside all the cells of your body, we carry the instructions to build and run our bodies. This is called DNA and it is twisted and folded up into 46 chromosomes.
People with DS have 47 chromosomes and people without DS have 46. So in most ways, their body ‘runs’ the same as others, but in some ways it differs- due to the extra ‘instructions’.
Why is it called ‘Down’s syndrome’?
Dr J. Landon Down delivered a lecture to the Medical Society of London in 1887 where he described the medical and developmental conditions that became grouped together and called Down’s syndrome. “Down” was just the Doctors name. Nothing to do with up or down.
In 1959 Professor Jerome Lejeune discovered the presence of the third copy of chromosome 21 in these people with DS. This extra chromosome provides around 300 extra genes (instructions) to the normal compliment of 60,000 genes in every cell in the body and the brain.
- 92% of Down’s syndrome births are called Trisomy 21 (all cells carry 3 copies of chromosome 21);
- 4% of Down’s syndrome births are called Translocation (when only a bit of chromosome 21 is in all the cells);
- 2% of Down’s syndrome births are called Mosaic (when only some cells carry an extra chromosome).
How many babies are born in the UK with Down’s syndrome each year?
There are about 700 babies born each year in the UK, this means that approximately one baby per 1,000 births are born with Down’s syndrome. Although the likelihood of having a baby with Down’s syndrome increases with age it should be noted that about 80% of births are to women under the age of 40 years.
Is there a medical test that will prove that my baby definitely has Down’s syndrome?
Yes, shortly after birth a blood sample is taken and this will show if there are cells with three chromosome 21 or extra bit of chromosome 21.
Is there a cure?
Down’s syndrome is not a disease and there is no cure, but the treatment of associated health problems and support for learning difficulties allows many people with Down’s syndrome to lead broader and often semi-independent lives. Others, however, may need higher levels of care and support.
Physiotherapy, speech therapy and special educational programmes have an important role to play, while specific medical conditions associated with Down’s syndrome must be treated appropriately and not ignored.
With advances in medical knowledge and our growing awareness of healthy lifestyles, people with Down’s syndrome may live well into adulthood, with an average life expectancy of around 60 years.
With the promise of medical research now is the time to support quality research into interventions to improve outcomes in DS.
What are the medical conditions commonly associated with Down’s syndrome?
There are some medical conditions that are associated with Down’s syndrome, but they are not restricted only to people with Down’s syndrome.
The medical conditions and disabilities that commonly affect people with Down’s syndrome are:
- Learning Disability – all children have some level of learning disability
- Heart disease
- Stomach and bowel problems
- Alzheimer and dementia – a high proportion of people with Down’s syndrome will have early on-set Alzheimer or dementia.
- Hearing and sight problems
- Problems with the Immune system
- Speech and hearing problems
It should be noted that not all children with Down’s syndrome will have all these medical conditions & disabilities and many children grow up to lead healthy lives.
Do people with Down’s syndrome enjoy their lives? Are their parents happy? What about the siblings?
We have good evidence that they do enjoy their lives. Dr Brian Skotko and collaborators surveyed thousands of people to discover the feelings of people with DS and their families:
- 99% said they were happy with their lives
- 97% liked who they are
- 96% liked how they look
- 86% indicated they could make friends easily
Parents and families:
- 99% of parent/guardians said they loved their child with Down syndrome
- 79% felt their outlook on life was more positive because of their child
- 94% expressed feelings of pride about their sibling
- 88% said they felt they were better people because of their sibling with Down syndrome
- 97% said they loved their sibling
- 90% felt their friends are comfortable around their sibling
You can read more on their press release.