31 for 21 – Post 3

Get It Down; 31 for 21

I am on a roll, one up!
The thing is, I have been wanting to write about this for a long time, and somehow never got around to it.
 
It is about this, my very first post ever about Down syndrome. It was when I told almost everyone we knew that Vince had DS. He was not even a week old, and the entry has a few factual errors.
For example:
It is called Down syndrome, not Down’s Syndrome. It is after John Langdon Down, a British doctor who was the first to describe the syndrome in 1866.
 
Many children, ca 40% of the babies born with DS have heart issues, but they are usually not permanent.
 
There is something called Hall’s criteria, and it is a long list of things that can be present or not in a baby with DS (or without). The more of these pointers you have, the more likely you are to have a chromosome test done.
  • Prematurely born and/or underweight
  • Hypotonia, low muscle tone (80%)
  • Slowly developed Mororefluxes. Can be tested on the newborn baby by letting go of the baby’s head, the baby should then stretch out its arms and then do a hugging motion (85%).
  • Excessive joint laxity (80%)
  • A flatter face (90%)
  • A lot of skin around the neck (80%)
  • Epicanthic skin folds of the inner corner of the eyes
  • The almond/tinted eyes
  • Brushfield spots, the small white dots in the iris of the eyes (The Dr told me this was one of the most sure pointers of DS, which I now know is bs, but back then I knew nothing about this. Vince did not have it in the beginning, but he most definitely have it now, and I love it.)
  • The ears are located lower on the head
  • Keeping the tongue outside the mouth
  • A higher than ‘normal’ pallet
  • Congested breathing
  • Short,wide hands with soft short fingers with excessive joint laxity
  • A single palmar fold (Fyrfingerfara). This is a straight line across the palm instead of like most of us have two lines across the palm. Vince has this. But so does Bookie and my dad, and they do not have DS. I have tried to take a picture of Vince hand, but he won’t let me…
  • A short fifth finger that is bent a little inwards due to some underdevelopment
  • A Sandal gap – a larger distance between the large toe and the next toe
  • An abnormal hip bone form that can only be seen on x-rays
  • Irregular teeth, which can only be seen when the child is older.

When Vince was born the doctor wanted him to do the chromosome test because Vince had a small torso, the tinted eyes, I think the epicanthic skin fold too, and the sandal gap (which if you have seen my monkey feet looks VERY insignificant, still to this day). Even though it was absolutely heart breaking going through all the testing and of course getting the diagnose, I am very thankful that the Dr was observant enough to do this so we had a clear diagnoses from the get go. DS is really not that bad, I rarely think of it as something that has affected us in a negative way. I am very thankful for all the amazing people we have gotten to know during this time. It is amazing to see how Vince is breaking the ice and clarifying the stereotypical wrongs almost daily and I am incredibly proud of him. Yeah, it sucks with the bureaucracy and having to fight for his rights, but it is all so worth it. To me, he is the biggest heroe.

 

5 Responses

  1. I have also a single palmar fold and my mum has an epicanthic skin folds of the inner corner of the eyes….we don´t have DS.

    I like your blog very much, because I can learn so much about DS. Thank you, that you describe your fantastic life with Vince and your family!

  2. Jag är också stolt över att få lära känna Vince, men ännu mer över hans mamma som är den bästa morsan ever. Och klok och snygg är hon också. Miss you honey pie.

  3. I remember waiting to learn the results of our son’s karyotype, and racing through all the physical markers- closely looking him and ourselves over. Some of the traits were clear, while others like the palmar creaser still haven’t surfaced. The whole waiting process was so difficult because prior to his two month check-up, Ds had never been discussed.

    I love how you wrote that Vince breaks stereotypes because my Miles does the same. I think when people hear of his condition prior to meeting him they are always surprised- but I think that society still has a long, long ways to go in understanding Ds as more of a spectrum disability.

    Thanks for posting!

  4. I also love the brushfield spots in Benjamin´s eyes. They look so special. And most of the other kids don´t have them that´s why I tell everybody about his wonderful eyes :-).

  5. Just a wee point – in the UK it is called “Down’s Syndrome”, which is why I always use it, although I am aware the rest of the world doesn’t have the S attached 🙂

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