Happy World Down Syndrome Day! This is celebrated on the 21st March every year, to represent the 3x copies of chromosome 21 that people with Down Syndrome have (hence the 21/3 date).
For World Down Syndrome day this year, I thought I would share some facts and information that relate to the diagnosis. If you follow me on Instagram it’s likely you will have read a lot of these before, as I often share information on my stories (a lot of which you can find still in my IG Story Highlights). But for anyone else, I hope the below (along with the rest of my blog) leaves you with a lot more information on Down Syndrome so you can advocate for inclusion and acceptance with us.
A postnatal diagnosis for a baby with Down Syndrome is not uncommon (like we had - read our diagnosis story here) - not all babies are diagnosed during the mother’s pregnancy. Below are a couple of pictures of me, not long before I gave birth - it's so strange to think that at this point I had no idea who Oriana was or what our life would be like...
Not many people realise that those with Down Syndrome often have ‘soft vision’ / reduced visual acuity. This means that bold colours appear as faded pastel colours, and pastel colours can be very hard for them to see. Knowing this helps us make better choices for Oriana when selecting books, decorations, printing learning resources etc.
Most people have 46 chromosomes, people with Down Syndrome happen to have 47.
There are three types of Down Syndrome - Trisomy 21, Mosaic, and Translocation (read my other blog post for more detail on the three types). Trisomy 21 (T21) is the most common type, and this is the type that Oriana has.
Down Syndrome is called this because of the person who first officially identified the common traits of those with Down Syndrome - Dr John Langdon Down.
1 in 100 people will be born with a heart defect. However, over 50% of people born with Down Syndrome in the UK will have them. Oriana was born with three heart defects, including two holes in her heart. She lives a surprisingly healthy life and is not on any medication for this. Other children may have medication to help them manage the symptoms, or have surgery to try and correct the heart defect. For some children, the heart defect may repair on its own (for the last update of Oriana’s health, read this blog post). In the picture below is a younger Oriana is having a routine ECG:
As recently as 1983, the life expectancy for those with Down Syndrome was only 25 years of age, but due to better health care & social integration it is now more like 60 years. Previously people with Down Syndrome were often separated from their family & put in a special ‘home’ - they were not given the opportunity to be part of a family as they are now, and weren’t stimulated or given the chance of good health care, education, and socialisation.
Children with Down Syndrome can have lower immune systems & take longer to get over illnesses - this can be related to other health issues that are more prevalent in those with DS (such as heart defects), but can also be related to physiological differences; People with DS often have smaller heads, and the passageways behind the face of a young child with DS are smaller than a typically developing peer. This results in more congestion and infection, and can affect hearing / breathing / swallowing. This often tends to improve with age (as the child grows bigger and so do these passageways). Oriana still struggles with congestion, it impacts her hearing and her sleep at night (she struggles to breathe comfortably), and she tends to suffer with a cold from September through to spring. Hopefully we will see an improvement each winter as she grows. You can see how tiny her head was in this picture, and although she is obviously bigger now she still has a relatively small head when compared to her peers.
There is no correlation between cognitive ability and the physical markers associated with Down Syndrome; just because someone looks more obviously like they have DS, it doesn't mean they will be more or less intelligent than someone whose DS diagnosis is physically/facially less obvious.
People with Down Syndrome tend to have smaller mouths, usually with a higher roof and a thicker or longer tongue. This can make their speech less clear. Speech therapy and exercises can help this. Also their tooth eruption is typically later than other childrens’ and doesn’t always follow the same pattern, e.g their back teeth may come through first, or their teeth come through at an angle. Do not mistake someone finding speech hard with them not understanding what you are saying though - it is common for young children with DS to understand more than they can say.
Some of the physical features of someone with Down Syndrome can be: no nasal bridge (the part of your nose where you sit your glasses), almond eyes, low muscle tone in tongue (feeding can be hard), a sandal gap between their big toe and the other toes, a flatter shape to the back of the head, smaller and lower ears, low muscle tone across the body (making it feel like their limbs are much heavier / with sandbags on them), shorter limbs or fingers in proportion to their body, being shorter in stature than their typical peers. Someone with Down Syndrome often doesn’t have all these features though, for instance Oriana has very long limbs for a child with Down Syndrome, but does have almond eyes and no nasal bridge (seen in her baby picture below)..
Down Syndrome is confirmed via a DNA test (called a FISH test).
People with Down Syndrome tend to be very visual learners - this can be a real strength for them, and can find learning to read by whole word recognition comparatively easy.
As with all individuals, those with Down Syndrome can have a range of abilities, skills, and IQ. However, there are no ‘levels’ to Down Syndrome - read this blog post for more information on this. People with DS can have careers in a variety of fields (TV presenters / dancers / models / motivational speakers / construction / actors - see images below), attend further education settings, live independently, and get married.
Tommy Jessop - an actor known for Line of Duty, as well as other roles.
Heidi Crowter - wife, English Disability rights advocate.
Andrew Self - dancer, as featured on BBC's Greatest Dancer show (definitely worth looking up his performances!)
Ellie Goldstein - British model, as featured in Vogue
George Webster - Cbeebies presenter.
These are only a handful of facts related to Down Syndrome, and there are obviously individual differences between everyone who has DS - but hopefully this has been a starting point if it wasn’t something you knew much about before!
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