Friday, 28 February 2014

Rare Disease Day

First Time on Skates
It is Rare Disease Day!

In honour of this, I would like you to meet Owen- my 8 year old son. He has a rare genetic anomaly- specifically 11q23.3 (x4). Looks pretty technical when I type it like that! Here is a quick explanation of what it all means. Everyone has 23 pairs of chromosomes- these are the structures in each of the body’s cells that carry the genetic information (DNA) that tells the body how to develop and function. They come in pairs, one side inherited from each parent, and are numbered 1 to 23 approximately from largest to smallest. Each chromosome has a short (p) arm and a long (q) arm. Sometimes, there are errors within these chromosomes (missing genes (deletions), extra genes (duplications), genes that have ended up in the wrong spot or wrong chromosome, or structural differences like the arms being fused). All of which can effect how an individual develops.

In Owen's case, he is triple rare- 
1. He has a small section of triplicated genes (meaning he carries 4 copies instead of the usual 2) on the (long) Q arm of the 11th chromosome- at the junction of 23.3. Deletions are by far the most common issues, followed by duplications (meaning 3 copies)- triplications (4 copies) are extremely rare.
2. The second part of the rare equation is that it is found on the 11th chromosome. It can be a lonely chromosome. So far, the only known person (in the world) that carries the same anomaly is Mr Cleverly Disguised as Cake. Sure, there are other known syndromes on the 11th chromosome (Jacobson's, Emanual, Neuroblastoma, Ewing's Sarcoma, Ectodermal Dysplasia type 4) but none are exactly what Owen has.
3.The third part you ask? He's freaking fantastic! He has a number of super powers- like hyperlexia (the ability to read before being taught- in Owen's case, he was spelling words on my fridge when he was 2- even though he didn't speak until he was 5) He has a deep understanding of empathy, and the brightest, happiest attitude I have ever encountered. He sees the world from a different angle than most- which often boggles my mind and makes me think that I need to look harder to see if I can catch those things that escape me. He is a computer whiz- no password is safe from his enquiring mind. Perhaps the coolest part? The unique and not often found ability to fall down, grin, brush off the dust and start all over...WITH A SMILE.
"It's pretty slippery out here Mommy!"

He has his challenges. Feeding difficulties. Unique language. Hypomyelination in certain areas of the brain. Motor planning, control and coordination difficulties. And while these things can be tough on a little guy that wants to be in the centre of the action, he takes it all in stride.  Not much stops him from participating and enjoying in every moment of life.  And that is something that I am eternally grateful for. He is not dis-abled, he is differently abled.

So what does it all mean?
Well, nobody really knows for sure.

The one thing that I do know for sure?
It is frightening to hear a specialist say "we don't know" in reference to your child.  But it will not stop us from enjoying every moment of every day.