Thursday, July 31, 2008

Wednesday is looming up both too quickly and not fast enough

OK, so we are off to Spain next Saturday, and we are all very impatient about that.

However, I have a hurdle to overcome a couple of days before we go. I’m being very brave about it, as is my want, but my Mama is a little nervous (eyes rolled to ceiling in despair).

Magnetic Resonance Imaging, hmmm sounds cool doesn’t it! or RMI as we call it here at the Bernard Bunch cos that’s what its called in French. I have to have one next Wednesday.

And because I might find the MRI tunnel and all the restraints frightening and have difficulty keeping still for the 45-60 minutes that it takes to get the best brain pictures, I’m getting a general anaesthesia. Mama is resigned, but not overjoyed, about this.

West Syndrome has been living with me since I was born. Its a form of epilepsy which only occurs in the 0-2yr old age bracket. I struck lucky. My parents caught on to what was going on pretty early, and I was quick to get the right medication. The really lucky part is that the medication immediately got rid of it. No more seizures. Ever. Not all kids get this lucky, and I thank that lucky star which continues to dangle over my head for giving me that extra boost. Infantile spasms can do quite a lot of damage to a developing brain – and my brain is quite delicate enough as it is, thank you very much! Sabril stopped the seizures immediately, when I was 8 months old. So now that I have hit the ‘I’m two years old” milestone, I have to have this RMI MRI thingie to look for scars, malformations, cysts or tumours which might have been created by those initial seizures.
At the end of the day on Wednesday, I will know one of the two following possible things :


· The epilepsy has gone forever (please dangling lucky star, make that the outcome for next Wednesday ok?)


· The infantile spasms have turned into something else and I have to continue taking preventive medication and succumb to their side effects (destroyed peripheral vision - hence my magnificent spectacles permanently perched on my delicate little nose).

Tuesday, July 29, 2008

This is where I will be next week!!! Woooohhhooo!

In a quaint little Spanish village lost in the middle of nowhere ..

surrounded by vineyards

where everything is peaceful (except when my brothers get near each other)

just five minutes from the beach

Look how much I have grown since I was there last summer! What a titch I was!!!
And after a good days splashing around in the Mediterranean, everyone sleeps like ... a baby!!!

The Bernard Bunch just CANT WAIT to go off on hols next week! Can someone press 'fast forward' on time please????

Monday, July 28, 2008

A Paris Trousseau collection of bruises

Over the past few weeks, quite a number of my readers have commented on my bruises (I love referring to 'my readers', its so groovy!!). Yes its true, I am always covered in bruises and bumps and scratches. But it is not just because I have not quite mastered the art of walking. Let me tell you a little about Jacobsens Syndrome.

As you can see, I am very, very, very beautiful (I know, it gets boring after a while, all this admiration and stuff …. ) I am beautiful because I have very special, tailor-made genes. We all are made of chromosomes, and when Mama and Papa made me, part of one of my chromosomes fell off, when the cells started dividing. They were in Spain at the time, so maybe next week I'll stumble across my lost bit of chromosome!!!

Well, that lost bit of chromosome 11 creates a bleeding disorder called “Paris Trousseau Syndrome” which causes an impairment of platelets' normal blood clotting function. Its kind of like a form of hemophilia, and us guys bleed quite a lot. We are sensitive to pressure on our skin... such as walking into the kitchen table (something I do often because I keep taking my glasses off). Some of you have admired the artwork on my forehead which can be compared to a Salvador Dali mosaic of blues, purples and magentas. I found out about my Paris Trousseau because I had a bone marrow marrow biopsy when I was born. It explained my dangerously low platelet count and was the reason I was sent to the Hemotology departement of the childrens hospital just after I was born, where I had blood transfusions to top up my platelets level. It’s a good thing I’m so brave (and cute), that’s what I say! So you see, us Jacobsens kids bruise very easily, bleed copiously when we cut ourselves and tend to be at risk of internal bleeding all the time. I think this is why Mama is so protective of me and follows me around like a leach! We can’t take common medicines that interfere with platelet function, like ibuprofen, cos they do funny stuff to my blood which isn’t good (Mama understands better than I do)

So, since we are on the subject of Jacobsens Syndrome, let me introduce you to some of my fellow Princesses who also have Jacobsens Syndrome. You will note that it is a principally ‘girls’ thing but we do have one gorgeous Prince called Dylan. You will probably notice that we have features in common, and that we are ALL exceptionally good looking and cute!

Here is my gorgeous friend Charlotte who lives in France too. She is fantastic. Her Mama was the first person to contact us, via Internet, when Mama found out about Jacobsens Syndrome. Stef, on t'adore! Et puis il etait temps de se retrouver, tu ne crois pas?

Eva also lives in France, and her Mama Sylvie calls her a whirlwind cos she is so full of life. I met Charlotte and Eva last summer when they all came to our village for a weekend. It was a wonderful moment meeting them both! We hope to do it again soon.

Now this little cutie here

is called Isabelle, or Isy. She was born in England but her parents have just whisked her off to Singapore where she is getting much better medical care. Our Mama's talk quite a lot over the phone, but have never met (YET!).

Isy has yet to learn some social graces when it comes to table manners
This here is our Prince, Dylan, who lives in far-away AUSTRALIA! His Mama and mine exchange emails occasionally, and his Mama has just started up a blog. This is Dylan at the recent Jacobsens Syndrome conference which took place in the US - he sent me this picture with Po cos he knows I am nuts about the Teletubbies. Isn't that nice?!!!

This here is gorgeous little Sydney who lives in the US .... Mama has always been gobsmacked at how alike she and I look. She is very cute, don't you think???

Now this here is my gorgeous new friend Johanna who lives in Sweden. Mama met her Mama over Internet just a few days ago. Johanna is four months old and a right little cutie, don't you think?

And this is another little girl with Jacobsens Syndrome who lives in the US

We are definitely a good looking crew, if I may say so myself, in all modesty!

Saturday, July 26, 2008

My brothers are back after three long boring days and I am so chuffed!!!!!

Mama told me that my brothers are back ...

"William ... Nathan ... Where AAAAAAAAAAAAArrre youooooooo?"

Maybe they have slipped sneakily into the Garden Shed ... what do you think????

Well if they aren't in the shed ... maybe they are hidden in my new summer sandal ....

Hmmm let me ponder over this ...

Surprise William and Nathan ... HERE I AM!!!!!!!!!!!!!!!!!!!!
I am so chuffed to be with you again!!!

For the more observant of my readers ... you may notice that our blue pool water has turned green ...
And I spend the whole evening tonight watching Papa fight the 'Ph' whatever that is ... rock ON, thats what I say! A bientot brothers and sisters!!!!! I'm pretending to be one of my older brothers here ... can you tell???