Tuesday, 1 November 2011

So how did we get to where we are today?

One day in March 2009, having spent 8 days in hospital, and then released, we got "the call" from the geneticist!  she had been working late and when she got to the bottom of the pile of work she had been working on, there it was !  Ambers result....... Well I couldn't believe what I was hearing, Amber did have a mutation in the CDKL5 gene, the condition is so rare that upto that point there was only around 50 published cases, today as I write this, this figure is likely to be around 300 children and adults living with CDKL5 worldwide, and around 35 in the UK. 

The journey to that point was a whirlwind of tests and hospital stays, red-herrings, seizures...... my goodness lots of seizures........ In Ambers short life at that time of diagnosis she had 5 MRIs, 4 Lumber punctures, a ketogenic diet, a low protein diet, 15 medications none of which have worked, one which gave a potentially life threatening rash, a muscle biopsy, a skin biopsy, numerous EEGS, and she saw three Neuros all of which collaborated into a study that fed into the research into this condition and even they didn't spot it.   The focus with Amber had always been the size of her head, and this is why the test for CDKL5 wasn't taken seriously by the Doctors when we requested it some two years previous to her diagnosis!

From there we joined a yahoo group which is specifically for parents with children diagnosed with CDKL5 and its fantastic, finally we belonged to a population, we recognised the seizure types, we had a understanding of the perculiarities of her mannerisms and the way she is, we looked at videos of little girls that are so similar to our little girl in so many ways that it is endearing.  Today, I am moderator of this group, and have set up another group in Facebook called CDKL5 Parents Support, which is flourishing with many families worldwide sharing their stories, and supporting each other through the good times and the bad times.  

Today Amber is doing well, she is currently not having convulsive seizures, thanks to her 22nd and 23rd therapy for Epilepsy, a drug called Vigabatrin, and a Stimulator that is fitted in her chest called a VNS (Vagus Nerve Stimulator)  at the point that our little girl started on Vigabatrin, she had had on average around 300,000 drop seizures, within a few weeks of starting the drug, she was down to none.  She still has daily seizures, but to the untrained eye, you would struggle to notice. 

Amber is thriving which can be seen from the Videos on our Youtube Channel, see links.  People said to me, why are you pursing a diagnosis, what willl it change?  Well to answer that question, it has given us a life, a purpose, knowing that her seizures are untreatable, it allowed us to make the decisions to give her quality of life of the endless round of side effects that drugs can give.  At the point of diagnosis, we got our little girl back, our life may not be what we expected, but today we believe it is what it was meant to be

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