Thursday, 1 March 2012

So, what is Down Syndrome?

In a nutshell

Down Syndrome is a genetic condition. People generally have 46 chromosomes, but those with Down Syndrome have 47. This is due to them having 3 copies of the 21st chromosome instead of only 2.  Down Syndrome is known in medical terms as Trisomy 21 (due to 3 copies of the 21st chromosome).

Often babies with Down Syndrome are born to older Mothers, but there are plenty of younger Mums who give birth to these precious babies as well.

That one little extra chromosome can alter the way people with Down Syndrome look physically, can make them more prone to certain medical conditions, and it affects the way they learn and process things too. It does not make them less human, and certainly does not mean they are not intelligent individuals. We have already discovered with Felix that he is extremely clever and knows exactly what he wants!!

Felix 1 day old
Medical Issues

Back in 1930, the life expectancy of someone with Down Syndrome was only 9 years old!! With medical advancement and a lot more knowledge, people with Down Syndrome now have a life expectancy of 60 years plus!!

Half of all people with Down Syndrome are born with heart issues. Thankfully in this day and age, nearly all are successfully operated on very early in life with no further issues. Sadly, some are a little more serious and the Down Syndrome Community grieve with each other when one of our precious little ones earns their angel wings. We count our blessings every day that Felix was born with a healthy heart.

There is a slight increase of our children developing leukemia in the first few years of life. Due to increased awareness of their higher risk, Doctors are generally very vigilant about looking out for early symptoms so that at the first sign of anything being wrong, they are able to act quickly. Most Doctors I have heard of routinely test for leukemia every 6 months.

Often people with Down Syndrome will have problems with their thyroid, causing excessive weight gain, lower muscle tone and dry skin, just to name a few. These days, people with Down Syndrome are tested every year by a simple blood test. If hypothyroidism is detected, they will be medicated straight away and will remain on medication for the rest of their life. Todays children with Down Syndrome appear much thinner and healthier than older generations because of early detection and intervention. We are lucky to be raising Felix now rather than 50 years ago.

Physical Appearance

Firstly and most importantly, people with Down Syndrome look like other members of their family! Don't just look for the 'Down Syndrome'. Look beyond it and you will see that Felix has eyes the same color as mine, but the same shape as his brothers and sisters; that he has full lips like his Daddy; that his hair has a horrible double crown and cowlick just like one of his brothers. He is more like us than he is different.

However, there are several physical things unique to people with Down Syndrome. These will vary from person to person; some will have all the characteristics an others will only have a few.

Those beautiful eyes

Usually the first thing you will notice about someone with Down Syndrome is their eyes. They are 'almond shaped' and raise slightly upwards kind of like Asian eyes (hence the old term- mongolism). Felix has what are called 'brushfield spots' in his eyes. The only way to describe them is that they look like added little sparkles in his iris. They are often seen in blue eyes and are incredibly beautiful. I love his eyes.


Often people with Down Syndrome have either a smaller than average nasal bone, or like Felix, no nasal bone. This makes their nose appear smaller or flatter and can cause them to get stuffy noses a little bit more due to narrow nasal passages. We have found that a vaporiser in Felix's room while he sleeps solves this problem for him.


Got to love that tongue!
The mouth of someone with Down Syndrome can be smaller than average. This means that their tongue can be quite big in comparison. Felix, like many people with Down Syndrome, will protrude his tongue from time to time especially when he is tired. Low muscle tone is common, and sometimes it's just plain hard work to keep his tongue in his mouth.


People with Down Syndrome are generally shorter than average. One of the other signs that Felix had Down Syndrome (in ultrasounds) was that he had really short legs. They were always in the smallest 5%. I'm thinking I better learn to take up pants really well because I have a feeling I'll be sewing a lot in the future.


Simian Crease
A bizarre, but incredibly unique trait of Down Syndrome found in some, but not all, people is the Simian Crease. It is a single crease that runs across the palm of the hand. Felix has it on his right hand but not his left. The crease was named after Simian monkeys because they also have a single crease.

Felix's big gap between his toes

A large gap between the big toe and the next toe is another unique trait. We always joke with Felix that we could fit a 6th toe in the gap he has. I'm sure it will come in handy for picking things up off the floor with his toes!


People with Down Syndrome CAN and DO learn and develop! Down Syndrome is considered to be a mild to moderate intellectual disability. It may take people with Down Syndrome a little bit longer to process information, but with encouragement and determination, they will be successful. No, Felix is not going to be a rocket scientist, but neither am I!  I can't wait to see what Felix is going to do in the future. I am confident that he will be a hard worker and he will always love music! He is already stubborn and likes to push away my hand so he can 'do it himself!' I admire his persistence and know it is a gift that will help him in the future.

Last words

I hope this information was informative to those of you new to the wonderful world of Down Syndrome. Bear in mind there are a lot of variables within the information I have written, and every person with Down Syndrome is an individual, same as you and I.

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