Bits and Bobs about Down Syndrome

Just a few facts. This list is not meant to be exhaustive. I’ll be adding to it every now and then. Enjoy. Comment. Ask. xx

Fact #1: The basics – Chromosomes stuff

So, you all know that your genetic makeup is held in 46 chromosomes (23 from dad and 23 from mum), right? 22 pairs nicely numbered from 1 to 22, each tasked with a very specific job to do, and the 23rd pair determining your gender (female if XX or male if XY, although that whole gender thing is debatable, perhaps a post for another day). So far, so good?

Now, individuals with Down Syndrome have 47, not 46 chromosomes. How?
Without going into too much details, at the moment of your conception, your mum’s egg cell should contain 23 chromosomes (one for each pair), your dad’s sperm cell should also contain its very own set of 23 chromosomes (for each pair): for example, chromosome number 7 from dad should go straight to chromosome number 7 from mum and hence make YOUR new pair of chromosomes number 7, and so on and so forth until you end up with your own brand new 23 pairs which is basically your blueprint, yes?

Well, all sorts of glitches can happen during that very delicate process, and one of them bears the name of Down syndrome, or Trisomy 21. You see, sometimes, mum’s egg cell (or dad’s sperm cell) has got 2 instead of just one chromosome 21, and they team up with the other chromosome 21 from dad’s sperm cell (or mum’s egg cell), and so, you end up with 3 copies of chromosome 21. That’s why Down syndrome is also called trisomy 21!!

The consequence of the presence of that extra chromosome is that the precise jobs to be carried out by pair 21 get all muddled up, just like too many cooks in a kitchen, and it can have a bit of a ripple effect on all the other pairs too…
Sometimes it’s just a little bit muddled up, sometimes a bit more, sometimes a lot more…

There, now you know…Sorry, nothing to do WHATSOEVER with 1/what mum ate when she was pregnant 2/ the outrageous position at conception 3/your geographical location 4/your ethnic background 5/how educated you are or are not 6/what god you believe in or don’t believe in 7/your bank balance or overdraft (yes, I was once asked if “rich people can also have children with DS…) or even KARMA!!!!!

The fact is and remains: about 1 IN EVERY 1000 BABIES WORLDWIDE IS BORN WITH DOWN SYNDROME (depending on the source, it can be one in 750, although that figure is on the decrease due to prenatal testing and higher termination rates upon diagnosis).

Fact #2: Down syndrome or Down’s syndrome?

Just to clarify, you may have wondered why there seems to be 2 different spellings of the same condition, and even a completely different terminology! Now be warned, as at some point you may come across people who are extremely sensitive about which one THEY believe is the RIGHT and ONLY one:

Down Syndrome: mostly used in the USA and Australia, for their own valid, logical reasons.

Down’s syndrome: mostly used in the UK, for their own valid, logical reasons.

I honestly couldn’t care less about the presence or absence of an apostrophe tied up to an “s”, I’ve got bigger battles to fight (like how to deal with that extra chromosome) and bigger dreams to chase (like full inclusion and validation of my child throughout all of her life stages!).

I don’t mind and respect whatever spelling you opt for, but personally, when given the choice, I will always go for the more practical one (call me lazy 😜): Down syndrome.

If in doubt, just use DS…(it’ll keep you out of trouble) or Trisomy 21 (it’ll make you sound really smart). 💖

Fact #3: Only older mums have babies with DS…Right? Nope!!

A very common and totally wrong assumption is that only older mums have babies with DS. The fact is, although you have a higher chance of having a baby with Down syndrome as you get older, don’t be mistaken: most babies with DS are born to younger mothers simply because there are A LOT more young women who give birth than older ones! Are you with me?

For the record, both my husband and I were 34 (which, granted, is considered old in many countries!) when we had Kathleen, and she is our first of 3. She was born in Saudi Arabia. Although we expected her, we had no clue about her stowaway of a chromosome and didn’t even think of having any tests done because, well, simply because this type of stuff only happens to other people, not us. We will never know for sure what route we would have taken had we gone ahead with testing; I don’t care what you say, you never know until you are in the thick of it, everything else is conjecture. But it most likely doesn’t bear thinking about …

Fact #4: What’s the real deal with the tongue?

Yeah, why the tongue protrusion in most babies/toddlers (sometimes adults) with DS? It can be due to a number of factors, but with the right support, most will grow out of it.

1/ It’s very rarely due to a large tongue (or macroglossia)

2/ It is usually falsely perceived as large only because of a higher arched palate and a small lower jaw, so not leaving much room to house a tongue!

3/ Don’t forget about low muscle tone (hypotonia), it’s easier for them to just let it hang out until they gain enough muscle strength.

4/ A lot of them become mouth-breathers due to frequent nasal congestions and ear infections (they usually have very narrow ear canals and nasal passage so it doesn’t take much) and so, the tongue naturally hangs out.

5/ Very rarely, it can be due to masses, growth or cysts on the tongue (a paediatrician would notice that pretty early).

Anyway, due to all the care and attention they now receive, you won’t see many toddlers/adults with that tongue protrusion anymore. But if you  do, you now know why.

What worked really well with Kathleen from very early on, is that as soon as she would stick it out, I would put it straight back in, consistently, very gently, without making any fuss. It is not a method recommended by all Speech and Language therapists, but it was by ours and it worked like a charm over time. Now that she is 20, the only times we get to see a bit of that tongue is when she is tired (and all I have to do is get her to look at me, I stick my tongue out and she pulls hers back in, that is until she falls asleep, not an issue in bed, but quite a sight in a train or underground!! But then again, who cares? I confess I’m also a regular when it comes to unsightly people fast asleep on public transport..)

Fact #5: Now, why do they all talk funny??

Have you ever wondered why on earth all people with DS talk funny, as most children would describe it…

It’s true, they all have a speech impairment of VERY varying degrees, but remember, however severe that impairment may be, it never mirrors the degree of cognitive impairment. In other words, it’s not because they can’t speak properly or not at all for that matter, that they don’t have anything to say or that nothing’s going on “upstairs”, far from it!!! And that is valid for anyone with a speech impediment, not just for people with DS!

Anyway, the reason behind the impairment is that they notoriously have very low muscle tone, and as it takes about 100 muscles (in the lips, tongue, throat, cheeks, jaw) that you need to move, tense or relax at the right time in order to produce the desired sound, well….. you can imagine the challenge!!!! Be that as it may, they’ve come a long way thanks to early intervention and loads of speech and language therapy sessions.

A few of them physically just can’t do it and are described as non-verbal.

Some others can’t be asked the amount of energy it requires so they stick to the strict minimum. (See study below)

Most of them get frustrated because by the time they’ve managed to get the first few words out, the person they’re talking to has lost interest or cuts them off!! So, please bear that in mind next time you attempt at talking with instead of talking at someone with DS. And while we’re on that subject, please also remember that the majority take a bit longer to process what you’re saying, so slow down, be patient and ADAPT!! I guarantee you will be speechless with their wicked sense of humour!

And just so you know, a lot more than you think can talk the hind legs off a donkey, they just like the sound of their own voice ( yes, that daughter of mine in the pics…)
And some, well, the elocution is nearly perfect and they are so articulate it’s just sickening! So get rid of all your assumptions, listen and play it by ear!

For Kathleen (my daughter), her brain works a lot faster than her facial muscles, so she regularly takes shortcuts, like instead of saying professional, she’ll say fessional, or jamas instead of pyjamas. Most people will usually understand when in context.

You know, when she was a toddler, she couldn’t wait to talk, and would pretend she could by making up sounds with all the right intonations! She’d be on the phone to her dad at 2 years old, babbling away and I am convinced that she was telling him all about her day! Much to my dismay, she didn’t say Mum until she was almost 3 years old!!! I was so worried! Now, we can never shut her up!!! Her favourite is to give impromptu speeches, like, I mean, always think twice before you hand her a microphone because she’ll think thrice about handing it back!  She’s not worried about an audience, talking to one doesn’t faze her one bit (like when she gave her 5mn speech at the UN), talking without one at all is no issue either as she simply makes one up (she does that daily, in her room, in the bathroom, whenever she’s alone, it’s her way of dealing and processing what’s going through her mind, we don’t discourage it, we don’t encourage it, whatever she needs to do to get through the day! Her imaginary friends have always been a huge support network for her and that’s exactly what she calls them, imaginary friends and she is very protective of them).

So, to all the young parents out there, don’t despair when your little ones take a while to get talking, and don’t underestimate the power of SLT and sign language (more on that in a later post).

Some great resources:

1/ From Down’s Syndrome Association: https://www.downs-syndrome.org.uk/about-downs-syndrome/lifes-journey/speech-language-and-communication/communications-series/

2/ https://library.down-syndrome.org/en-us/research-practice/02/3/voice-people-down-syndrome-emg-biofeedback?fbclid=IwAR3f6PJJ2bjp6vniEUskyP5qrl3CMLU7fMZNvCeZA5TD-N1zcpwu5xoOj7c

“The figures for the group with Down syndrome are statistically very significant when compared with the control group. It means that whereas the average person uses 72.52 microvolts of energy to initiate voice, the individual with Down syndrome needs to use 131.57 microvolts – not far off twice as much energy to obtain the same result.”

Edit thanks to Colette Lloyd: Speech difficulties can also be caused by structural differences, hearing loss, lack or reduced access to specialist services, phonological awareness difficulties as well as learning difficulties.

Fact #6: what’s with funny teeth and DS?

I know it’s a shocking picture 😲but it’s not as bad as it looks! It’s just to highlight the fact that most of them have dental issues (What next, you’re gonna tell me!).

You see, their teeth rarely come out the way they should, which just by the way doesn’t make it easy for their speech…
They may not have the right number of teeth (too many or not enough), they can come out much later (which means they can’t chew as early as the other kids which means less opportunities to strengthen those 100 mouth muscles we talked about), there may be just baby teeth and nothing behind. The roots may be smaller (making any orthodontic work very tricky). They are also more at risk for periodontal disease (gum disease).

Hence, good dental hygiene is particular important very early on for them! And don’t forget to brush that TONGUE (lots of bacteria hide in there and you could get cracks later on)!

For Kathleen , she was pretty much on point with everything until her baby teeth fell out. Then she had all these EXTRA teeth (over crowding)!!! They were taking way too much space in her mouth so the orthodontist decided to take some out. Well, he ended up removing 11 of them. ELEVEN!!! It was a good call, though. And to everyone’s amazement, within a few hours, she was already eating a sandwich!!! The next day wasn’t so good, the next one was even worse. But she begged me to go to school anyway because she didn’t care how she looked, she just didn’t want to miss any lessons!! You can imagine the looks I got on the way… She was 14y.

We are currently trying to access some orthodontic treatment to have her teeth straightened. Also, they are quite yellowish due to the phenomenal (but necessary)amount of antibiotics she was given over the years.

Whatever the problem, they are lucky there’s always a solution, especially with preventative treatment, good oral hygiene, and thanks to all these amazing orthodontists out there who don’t dismiss appropriate treatments just on the ground of DS!

Now, go brush your teeth!!

Fact #7: Is there a reason why most people with DS seem to be overweight? Asking for a friend…again….

Absolutely! Even if the exact cause is not yet 100% known, for sure there are contributing factors. However, just bear in mind that for them, obesity doesn’t come about for the same reasons as “typical” people, and it’s not JUST about diet and exercise.

1/ They do have a slow metabolic rate, which means that given the same nutrition and the same activities as us, they won’t burn as many calories as we will. So unfair!

2/ They get tired more easily, probably because of hypotonia (lower muscle tone) and poorer coordination. Everything they do requires more effort.

3/ Because they get tired more easily, they don’t exercise as much as they should to burn those calories!

4/ It may be that although they have a higher level of leptin (a hormone that is supposed to suppress appetite and regulate body weight), their body not only doesn’t respond to it properly but they may have a severe resistance to it due to a genetic predisposition.

5/ They are prone to hypothyroidism, which can contribute to weight gain.

6/ Let’s be honest, they do generally entertain a very special relationship with food, they just love good food and like many people can be addicted to junk food. So, it’s never too early to teach them about nutrition and all that jazz…

7/Those who are not overweight probably have a typical metabolism (like Kathleen I guess, for now…).

Bearing that in mind, obesity is not inevitable for all of them now that they are included, have access to all kinds of sports and are being educated about health and nutrition.

The next issue is when they leave home and move into a more independent environment (ahem!!) and make their own decisions when it comes to food (oh dear…): FREEDOM!!!!

Whether curvy or slender, all they need from you is understanding, tolerance and inclusion…

Fact #8: can you still travel and go on holiday with a baby/child w DS?

You know, that extra chromosome 21 in itself does not equate to a now reluctant sedentary life. Ask us!!! We put her on a plane before she even turned 3 months old and many many more times after that! So unless there are medical issues, get booking!

Although Kathleen does easily get tired, she loves travelling. She doesn’t mind which mode of transport we use, she is keen on them all: car, bicycle, boat, train, bus, underground, rickshaw, you name it!

She couldn’t care less where we go as long as we go somewhere, be it 2 hours by car or 7 hours by plane…

She’s been lucky enough to visit many countries and even live in a few of them: Saudi Arabia, Kuwait, France, Germany, Austria, Jordan, India, China, South Africa, Japan, Spain, Italy, U.A.E., Switzerland and of course the UK.

And can I tell you something else that is strange? Although she loves her routines, she somehow seems to adapt very easily to new surroundings. Actually, whenever we moved countries, I used to worry so much about how she would cope with it all, and yet she was always the one who adapted the fastest out of all 5 of us, school wise, food wise, people wise, language wise!

And here’s the best of all: whichever country we’ve been to, people have always gone out of their way to make HER feel welcome. Perhaps the fact that she is a complete extrovert and a hugging machine have played a role into that? (her 2 siblings have given up getting any attention or any present from locals , they just step aside, roll their eyes to the sky and wait for her show to be over…)

Fun fact (that always amazes me to this day): while I have ZERO sense of direction (and I mean, nada, zilch), hers is second to none, as in OFF THE CHART!! She was actually able to sign her way to nursery before she could even talk! Just saying….

Fact #9: why do you never or hardly ever see elderly people with DS?

Seriously, how many times have you ever met or even seen an elderly person with DS?

Chances are you haven’t (and if you have, it probably wasn’t a pretty picture…) or not that many times.

Why is that? First of all, it’s definitely and absolutely not because they all have a very short life expectancy, at least not anymore!

The previous generations used to have a rather short (the shorter the better) shelf-life (I know, harsh term but perfectly describes the way society felt about them). Why?

Mainly due to health problems which went untreated. Why?

Because any medical/financial/human/emotional resource was considered a waste on them. Why?

They were deemed ineducable, incapable of learning anything, a total waste of time.

Thank goodness society was merciful and civilised enough to keep them in asylums/institutions/long-stay hospitals (in dubious conditions…) until death do them part. 🙄🙄 Why????

Because of plain and widespread IGNORANCE mounted on pillars of ARROGANCE…

For those of them who didn’t have life-threatening conditions and dared stretch their stay in those institutions, they were mainly kept indoors. Segregation was the only way and the mere sight of them was at best frowned upon.

When those venues all finally closed (not so long ago), they were thankfully moved to nursing homes or care homes. But because for the most part they were abandoned at birth by their family, they’ve had no relatives visiting them , showing them love, paying them some attention, bringing them decent clothes, taking them for a proper haircut, keeping them in check. Well, no wonder why they must look quite a sight if you happen to catch a glimpse of one of them!! (We know what happens physically and psychologically to mainstream elderly people with no one loving them or visiting them, right? It’s even worse for people with DS).

Currently, their life expectancy is 60 with some of them living well into their 70s.

Now, there is an amazing twist to the fact that they are more prone to Alzheimer than the mainstream population: scientists are intrigued and very busy looking at that DS/Alzheimer’s link, and their findings may give insights into the mechanism of dementia and ultimately prevent it!!

Paradoxically, your children and grandchildren will struggle even more to spot an elderly person with DS. Not for the same reasons as you, though. Why? Well, instead of being hidden behind walls, the truth is there are less and less of them being born, simply because of prenatal screening, that’s all. So, although their life expectancy has dramatically increased in theory, it has also alarmingly and rapidly decreased, if that makes sense…

But at least, when it’s my daughter’s turn to be elderly and you’re lucky enough to spot her, she’ll have been stimulated all her life, she’ll have had love and health care, she’ll have learned to be vocal if and when necessary. Her relatives will still be visiting her and making sure she has whatever she needs: mostly love (and nice clothes, and nice haircuts, and perfume, and nice shoes, and good food, and.. did I say nice clothes?….). And hopefully, instead of turning your head with pity and even disgust, maybe she will see a smile on your face, and maybe you will not only welcome her hug, but you will hope for one…

Fact #10: Are they less able the more they look DS?

That’s another question people dare not ask but are dying to know: are they less able the more they “look” DS, or more to the point, are they more able the less they “look” DS???

Well, have I got news for you!

The thankful truth is, there’s absolutely NO LINK whatsoever between how much they look the part and how they fare intellectually, physically, verbally, health wise or otherwise!

Just like us who are described as “mainstream” ( which basically and supposedly means disability-free), that sure doesn’t tell us much about our cognitive abilities, does it?

So, just like us, they have a very wide spectrum of abilities, which has nothing to do with the way they look.

Some of them really “look the part” and don’t struggle too much, or really do. Some of them “hardly” “look the part” and really struggle, or not much.

The fact is, the physical ramifications and general impact on the intellect of that extra chromosome vary from one individual to another, and the variables are still very much of a mystery to science. Research is ongoing…

In a nutshell: never assume, one way or the other… 😜🙏❤️😇

Fact #11: Why do all people with DS kind of look alike? 

You’re right, and it’s really fascinating to belong to 2 sets of ENTIRELY DISTINCT families!! Regardless of their skin colour or racial background, that one extra chromosome will inevitably give them away as belonging to the DS family!

Nevertheless, don’t forget that all 47 of their chromosomes link them DIRECTLY to their own family, that’s why they also have a very strong family resemblance!

For someone who isn’t familiar with people with DS, it’s easy to mix them up simply because the brain tends to compartmentalise only when it gets enough data, and let’s face it, it’s not like you see loads of people with DS on a daily basis! That’s why we really won’t get upset with you if you get our daughter confused with other young women with DS (which happens quite regularly by the way)!

Let me give you an example: when I lived in the USA for a year, I went to a school with a high percentage of African Americans. Coming from the countryside in France, my brain wasn’t used to differentiating people with dark skin! The first few weeks were really confusing because I kept mixing everyone up. Once the brain got used to it, it was able to differentiate the individuals! Same thing happened when I lived in India. Same thing happened when I lived in China (to me they all look more or less the same, but there are roughly 50 ethnicities and they can all tell each other apart!) . And just to show you how incredible the brain is at differentiating when given enough data: when I lived in Kuwait, I couldn’t get my head round the fact that children recognised their mum amongst a crowd of completely covered up women; their brain had narrowed it down to the gait!!!! So, don’t worry, the more you are used to seeing people like my daughter, the more you will be able to tell them apart. No sweat if you don’t. All we ask for is RESPECT, and that doesn’t require compartmentalisation, all you need is a heart!

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