We've got a diagnosis

Well I have blogged for a long long time, so much has happened. Amber in the last six months has not been too good with her seizures, we have tried a couple of new medications, and had our first infusion in November of Phenytoin which gave her a very nasty rash that has scared her little legs! we have tried Topirmate, and a drug call Piracetam which really made her happy. Unfortunately they didn't really do anything. We saw Metabolic Man at the beginning of December, which was good. He felt that Amber has a partial problem with Pyridoxine (B6) because it has always improved her condition so that was the route he was going down. We went to GOSH in January for an overnight admission for a Lumber Puncture, Ambers fourth. Unfortunately she woke from the sedation and wouldn't keep still so they had to abondone the attempt. Up to that point and beyond Amber seizures got so much worse, and the week after GOSH (Snow week!) we were admitted to Bristol Childrens Hospital in a hope to get a haematology assessment and a general assessment of Ambers Epilepsy. We ended up staying 6 days, she was started on IV high dose steroids and now we are on a wean. The day we left we were visited by the Geneticist and the Professor Haematologist, which was nice to see them. I had told the geneticist that we really needed to chase her DNA test for CDKL5 that had gone to Cardiff, because in the back of my mind all this time I was sure this is where we would find the answer!

Well the next day, I had the phone call, the geneticist had been working late and when she got to the bottom of the pile, there it was too wait to call she decided to wait. Well I couldn't believe what I was hearing, all this time Amber does have a mutation in the CDKL5 gene, the condition is so rare that upto last June there was only around 50 published cases, this is now thought to be around 150, it also doesn't yet have a name and is just known by the gene. Since then mixed emotions really, disappointment because this test should have been carried out two years ago, but through communication breakdown didn't actually go until last August. The the time in which we COULD have had a diagnosis Amber has been through an incredible amount of tests which include, 3 MRI, 2 Lumber punctures, a ketogenic diet, a low protein diet, 6 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 has always been the size of her head, and this is why it wasn't take seriously. So now we know, we now belong to a yahoo group which is specifically for parents with children diagnosed and its fantastic, finally we belong to a population, I recognise the seizure types, I have a understanding of the perculiarities of her mannerisms and the way she is, I can look at videos of little girls that are so similar to my little girl in so many ways that it is endearing. I know having tried 16 medications with Amber that it is unlikely that we will find a medication that will work for her, so we will just have to look to other non-conventional ways to try and find some seizure control. We are referred for a Vagnus Nerve Stimulator which is a device that sits under the skin in the chest with a fine lead that wraps around the vagal nerve and delivers small electrical pulses every few seconds to try and keep the electricity in the brian at a constant level.

So up and coming, a neuro appointment on the 11 March in Bristol Frenchay, a appointment with a specialist in Cardiff that deals with CDKL5, we have to produced a neutrophil profile for Amber which will involve tri-weekly fingerpricks tests for six weeks this will be started once the steroids are finished. Not sure whether we will see metabolic man again, I do hope so, and I desperate to know what his thoughts are about the condition which does affect the metabolic pathways in the brain.

All in all a good outcome, I will post more about the condition when I have a little more time. Oh we moved house to our bungalow, and we are now ensconsed in the Disabilities Facilities Grant process! always something........