T21 in Johnny

Many people have asked us about what signs Johnny shows that are common of Down syndrome. There are some signs that I obviously could not take pictures of, but I did try to include some pictures to give examples (or non-examples) where I could.

As far as prenatal things seen, Johnny of course had an increased nuchal fold in the beginning. This extra space at the back of the neck can be one of the indicators for Trisomies and other chromosomal disorders. He also had an echogenic foci (or spot on the heart) which is a soft marker and not a very good indicator of T21. In fact, Keegan had an echogenic foci as did several other babies we know who only possess 46 chromosomes. Johnny also showed smaller long bones later in his ultrasounds, particularly in his legs. The last prenatal indicator that we saw was at the very end when the MFS detected his low fluid levels which led to our "induction". One of the reasons why we were considered high risk is because the placenta frequently stops functioning correctly and that can be a reason why my fluid levels were so low. 

We of course cannot publish any pictures of the echoes done on Johnny's heart. It is very common for babies with Down syndrome to have septum defects in their hearts. In fact it can be one of the markers they look for if you do not want invasive testing like an amniocentesis. Johnny in particular has multiple "inlet ventricular septum defects" which is a fancy way of saying that he has teeny, tiny holes between the bottom two chambers of his heart. Some kids with T21 require surgery to fix the holes in their heart, some don't. Our cardiologist thinks that we should be ok without surgery. Technically Johnny also has an ASD (atrial septum defect), but that is only detected because of having echoes done so early. All babies have an ASD after birth because of flaps that are open in the womb that need a chance to close once they become oxygen breathers like the rest of us!

Many people with Down syndrome have what is called a single palmar crease where instead of many lines in the palms of their hands, they only have one. As you can see from the picture below, Johnny does not have a single palmar crease, but normal creases.

Found in about half of the T21 population and also found in the general population is a characteristic called sandal gap. It is extra space between the large toe and second toe as if there is a gap perfect for a flip flop to slide into. Honestly, it is the physical indicator I was most freaked out about (besides dangerous indicators of course). I have issues with feet anyways and when I found out (with some assurances by prenatal ultrasound) that Johnny would have this, I was worried about loving his feet as much as the rest of him. I assure you that I do love Johnny's little feet and he tries to hide this characteristic as much as possible by keeping his toes tightly pushed together. In the pictures I am pressing on his feet to show what it looks like.

Low muscle tone or hypotonia is a large indicator of Down syndrome and one of the things they look for at birth to diagnose babies who have not had a prenatal diagnosis. Johnny is definitely in possession of low muscle tone and rather than curling up like newborns usually do, he would gladly sprawl out and assume a very relaxed looking position. We have to be careful with his low muscle tone to make sure we don't prop him up on something he may slide off of and to make sure we give his back and neck extra support when we hold him. He is building strength in those muscles, but it will take time and work to get him up all the way. Below is a picture we took just after bringing him home (he was sunbathing in the window to get rid of the jaundice and he still has his umbilical cord stub). When we put him in the swing he was vertical and minutes later he had slid down to a horizontal position. I can't believe he fit that way!

Speaking of size, in general, individuals with Down syndrome are often shorter in stature than the general population. Johnny is definitely the smallest of our kids. Often people comment on him being a lot smaller because of how early he was, but his 3 weeks early is only slightly more than Keegan (2.5 weeks) and MacKenzie (2 weeks). He is just a smaller little tyke. Starting next week at the pediatrician, he will be on a Down syndrome growth chart rather than the normal growth chart so we can get a better idea of how he is progressing. On the normal chart he has been in the single percentiles. As a comparison to Mac, she wore this outfit at one week and Johnny is wearing it at 8.5 weeks.

Other indicators are harder to tell. Johnny does have an epicanthic fold and creases around his eyes which give individuals with Down syndrome the distinctive look in their eyes. I also think he has "Brushfield spots" which are white spots in his eyes. It is harder to tell if he has some of the other facial characteristics like low set ears or flattened nose because he is still a newborn who is growing and changing each day. Time will give us a better assessment of that. Babies with Down syndrome often have nursing problems...but I will have to devote a whole post to that...

A last word about Johnny and his prenatal diagnosis is that most babies like him, with the diagnosis early on, are terminated and not given the chance to become the little ones they are meant to be. Johnny is exactly who he was supposed to be, different characteristics and all. My heart hurts for those lost ones and those that think babies like him are not worthy of life...just look at this little face...

This is life.

I hope he always keeps in his heart the thought that despite his differences, he is fearfully and wonderfully made. And as Max Lucado wrote, "So promise me you'll never forget...that you aren't an accident or an incident...you are gift to the world, a divine work of art, signed by God. You were knit together."