Early Signs of Down’s Syndrome at Birth
Most children with Down’s Syndrome are diagnosed at birth but I know of children were were diagnosed with Down’s Syndrome in primary school. One was around the age of 5 and another was around the age of 7.
There are three types of Down’s Syndrome, and on hospital letters, Toby is described as having Trisomy 21 which is the most common form. 95% of people with Down’s Syndrome have Trisomy 21.
The other two types are Translocation Down’s Syndrome (3%) and Mosaic Down’s syndrome (2%).
I am no expert on Down’s Syndrome but in Trisomy 21 every cell of the person has 3 copies of chromosome 21. In Translocation the part of chromosome 21 breaks off during cell division and attaches to another chromosome – typically chromosome 14. There are still 26 chromosomes but the extra part of 21 causes characteristics of Down syndrome to appear. In Mosaic Down’s Syndrome only some cells have 47 chromosome, others have 46. Mosaic DS seems to cause less issues depending on the number of cells affected, and is why the two older children weren’t diagnosed as they were only investigated when concerns were raised about slow progress and other issues in school. One child had poor muscle tone (hypotonia).
When Toby was born it is written on his notes right at the point of birth that he had Trisomy 21. However it wasn’t mentioned to us until much later in the day. Even then it was presented as a possibility - the notes are more definite. The was to test us via a blood test. There’s two blood tests. One which gives a quick yes / no result after a couple of days, and the other defines which version the child has.
Of course, as soon as the doctor left, we started Googling! You are literally met with a list of possibilities a mile long which includes everything from very minor things like dry skin to very serious cancers. It’s a constant frustration that something that is a typical baby trait like possetting became a ‘Down’s Syndrome’ thing or even that after investigations Toby’s low oxygen levels are a ‘Down’s Syndrome’ thing. Equally Toby’s speech dyspraxia issues were hidden under the ‘Down’s Syndrome’ diagnosis and couldn’t be labelled as Verbal Dyspraxia like a typical child.
I was asked what were the obvious signs of Down’s Syndrome were. The baby photos below with the blue hat on are taken minutes after birth.
These are what were obvious at birth: One of the most well known are the 2 palmar creases on the hands. Most people have three on each hand. Toby has one hand with two creases and one with three. Funnily enough the paediatrician who saw us in hospital had one hand with each. Yet she didn’t have Down’s Syndrome.
The other obvious sign was Toby had tiny little cauliflower type ears. As if they hadn’t unfurled. They we’re dinky. For years audiologists have commented on how small internally his ears are.
Having googled we learnt about Brushfield Spots. These tiny white flecks appear on the eye of the iris. For me, as much as I hoped Toby didn’t have Down’s Syndrome, finding these spots was when I knew Toby had DS. You can’t really dispute these.
Toby also has a clear ‘Sandal toe‘. This is so called because the big toe is clearly separated from the next toe as if wearing sandals with a toe post. However my toes are also well spread so I wasn’t sure at the time if that was inherited or not.
I don’t know if I was just blind to it, but I struggled to see Down’s Syndrome in Toby’s eyes. I had worked with babies for many years but I just couldn’t see it. Of course I can now. Someone said to me that Down’s Syndrome is either immediately obvious at birth or the baby grows into it in the first year. I remember being really shocked when Toby was approx 6 months old, when someone came up to us in a restaurant and mentioned a relative who had DS. I really didn’t think it was that obvious. However it was clear by his first birthday. These says I struggle to spot DS in children’s eyes because it’s just normal for me. It’s other traits that are more obvious.
The final sign that I couldn’t ignore was that Toby has a flat head. It’s not even so much that the actual head is ‘flat’ but it’s inline with his neck. So where a typical neck concaves inwards from the shoulders under the head, Toby’s is more or less a straight line from his back, through his neck to his head. It’s more of a thick neck than a flat head. This is a very typical Down’s Syndrome trait.
I was told that Toby was unusual at birth which is what gave rise to the question mark by doctors to not tell us that Toby had DS until the initial blood test confirmed it. First of all Toby was a big baby - 9lbs 4oz - 3 weeks early - who although small in stature, measured on typical length charts. Children with DS have a special green insert charts for their Red Book for height and weight.
Secondly, Toby wasn’t floppy. People with DS have hypotonia which as mentioned above means they have poor muscle tone in every part of their body - it causes slow motor development but also impacts on speech production, feeding and even breathing (as with Toby). This is usually an obvious sign. Toby appeared strong and could hold his head up very early. Thirdly, he fed well with no initial feeding problems. Many children with DS can’t suck and may be fed by a nasal gastric tube. Toby soon developed the family trait of projectile vomiting caused by trapped wind (which was of course was written off as reflux caused by DS when it wasn’t!)
The initial blood test came back to us three days after Toby was born. They then wanted us to stay in to run more tests, do scans etc. At the time I was SO desperate to get home and try to make sense of everything. I didn’t realise quite how important the tests were to look for any abnormalities etc. I simply wanted to be home with my family. The hospital let us go on the understanding that Toby returned the next day for the tests. It may seem crazy that I didn’t stay in overnight but we had no childcare for Rosie and I was like a caged animal desperate to flee. I was confused, hurting (physically and emotionally), I wanted privacy and my own space.
We went home, stuck a notice on the door asking for no visitors for two weeks, and started on the biggest emotional rollercoaster of my life as we started to make sense of what Down’s Syndrome meant to us and for our family.