Getting brainy (in a grainy way)

I am currently loving the weekly Small Steps Amazing Achievements link up from the splendid Ethan’s Escapes as it gives me chance to reflect and think about what amazing achievements have come from the Gabester this week.

It has also inspired me to set up a facebook page and actually get sharing his achievements with my friends and family who have suffered too many of my Gabe-related tears and tantrums. It is about time they got wind of the good stuff.

So here is this week’s amazing achievement….

Drum roll….

Party poppers at the ready…..


No, no, bear with me. Don’t take down the bunting or put away the champers. In Gabe’s world. This. Is. Huge.

Let me let you why.

What the blink are these?

Gabriel had a neurology review this week. It was actually a neuro-metabolic clinic that resembles something out of an episode of House. You have leaders in their field examine and debate your child looking for signs and symptoms that your average doc in your local hospital wouldn’t notice.

Last time we had this it was a solemn affair. His brain scan had shown that his myelin (the insulation surrounding his central nervous system and brain) was delayed. Meaning any connection from the brain to the body was going to be slow (hell- it might just not get there!). Rather like a door with wood worm – you are going to be letting out some heat and it is not as effective.

Added to the fact he was vomiting and fatigued all the time and his lungs were constantly wrecked, there were whispers of metabolic disease.

Now metabolic disease in most cases is not good. It is not just like a set of designer genes were we have created a unique little being with some quirks and differences (cake with extra sprinkles and a bit less raisins from the original recipe). It means that something important is missing (like egg). The cake is just not going to be a cake eventually – it just can’t get that far. In Gabe’s case, they thought his body could not make myelin very well and eventually it would get fed up and stop making it completely.

Another brain scan was ordered as were tests for some of the most rare, unique and quite frankly frightening neurodegenerative metabolic diseases in the world. It was a tough old wait.

Fast forward a year, this appointment couldn’t have been different. Scary tests all so far negative. Vomiting gone on gluten/dairy free diet. And the myelin is growing and it is coming up to the lower levels of normal meaning his brain connections are still slow, but they should continue to improve.

It was an appointment full of beaming and tickling (the docs), giggling (Gabe) and tears (me!)

A year ago, I never dreamed we would hear words like:
No more tests.
We are very pleased with his progress.
Keep doing what you are doing with his therapy.

They did add him to another clinical trial (he is a medical marvel/mystery after all), and I did my usual positive joke: “I’ll walk him in here next time, you see.” Usually done to stop myself falling apart until I had at least reached the car. This time there was no sympathetic smile. Instead, there was a grin and a “we don’t doubt it.”

Happy dances all round.

So back to the “round and round the garden”. Last year, he didn’t touch anything because he didn’t like his hands (I don’t think he knew what they were for). He couldn’t really recognise us as we walked into the room or if he did, he couldn’t get his body to show his recognition. His brain is starting to connect and fizz and whizz faster and faster as the myelin grows. What started with waving goodbye (usually ten minutes after the person left) has speeded up to the extent that he can hear the words “round and round,” associate an outreached hand with the song and use his hands to tickle your palm. Do you know how many neurons need to connect for that (stick that in your pipe, Nina!)?

That to me is just gold. An amazing Small Steps Amazing Achievement.

Gabe says: “Have you met my big brother, His brain is super fast mega-tastic broadband. But I still win at the opera songs game.”

Ethans Escapades

1 Comment on Getting brainy (in a grainy way)

  1. Jane Roberts
    July 12, 2013 at 8:29 pm (9 years ago)

    This is fantastic, it really made me smile and cry all at the same time. Well done little man. I'm also proud of myself for getting your Nina comment :0)

    Thanks for linking up with Small Steps Amazing Achievements :0)


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