Friday, 26 November 2010

Genetics and all that Jazz

Jack had an appointment with Neurology in Edinburgh this week. It's an 8 hour round trip which I normally do in a day.

It was a fairly routine appointment, mostly to turn up his Vagus Nerve Stimulator and to discuss how we were getting on. His seizures are still a problem but we have some control now. He didn't react well this time and was quite twitchy after, more than usual, so we hung about a while to make sure that it settled down.

During the appointment, I asked about Jack's diagnosis, which I had been given when Jack was 6 from a Geneticist in Aberdeen.  I was told that he had triplication of chromosome 15 and very little else, only that it is not curable and not life limiting.  Since then I have been given differing opinions on this, some doctors saying that his genetic abnormality is not life limiting but the seizures are and vice versa.

I had to phone and literally nag for his karyotype, which they gave me over the phone 5 months later followed by a confirmation letter. I was even told by one doctor that this is information I didn't need but the support group that I had been introduced to after Jack's diagnosis said that I did!

So with that reluctance in mind, I haven't really pushed for more information re his diagnosis and have just surfed the net for the little information that was available.

But Jack's regression in the last 4 years has made me ask again.  Are the seizures causing this amount of regression?  Apparently not but his chromosome abnormality is.  Why is Jack worse than children with duplication of chromosome 15 I asked and was told it was because Jack had two problems on chromosome 15.  There is evidence of Angleman's Syndrome too but his EEG does not follow the specific abnormality of a child with Angleman's.

I was confused because my understanding of Angelman's Syndrome was that there was a deletion on the chromosome but apparently it just has to be inactive!!! The reason I knew this was because before Jack's diagnosis, this was the only syndrome that I had found through extensive surfing of the web, that matched Jack's symptoms and happy demeanour.  It was my insistence that they look into this that brought about his diagnosis.

So now they are going to write to the geneticist and the original neurologist who diagnosed him to ask if they could take another look at his diagnosis and perhaps shed some light because I NEED to know more!  I know it won't change anything but it will help me understand how my lovely smiling boy, who could walk, run and even climb is now confined to a wheelchair and can no longer walk, eat and rarely smiles.

In the meantime, I will just carry on doing what I normally do, giving him as much love, cuddles and fun as I can, cause life is way too short to worry about the things that I can't change. And that people is something that has taken me a long time to accept cos as a mum, you would move mountains for your kids wouldn't you?

Yeah well this particular mountain is immovable so I donned my hiking boots and I bloody well climbed over it instead!

So just out of interest, what "mountain" have you had to climb in your life and why?

P.S. If you are interested in Jack's rare chromosome abnormality then click on the link below


  1. Your positivity is inspiring. I'm not sure if I could've been half as positive as you are if I was in your situation. Kudos to you.


  2. FC - thank you for your lovely comment :-)


Laughter is the best medicine and it's free. Thanks for visiting my blog and I look forward to hearing from you.

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