Chapter One of Book

Chapter One – The Beginning

Yesterday I was so angry, I was so cross, yesterday was a good day to start this memoire....... but I waited and I am glad I did. Today is a good day, today is a day with meaningful cuddles from Amber, Amber the little girl that inspired this journey. You may wonder about what happened yesterday I am sure I will tell the tale later on, lets put it this way, with all the shit we are dealing with, the fights we have to battle with the authorities for equipment etc, you never think you are going to have to battle closer to home and that people that you think are likely to help you, let you down in a major big way.

Well I am Carol-Anne, aged 37, just I might add, and mum to Nathan 12, Cameron 11 and Little Amber, our special child aged 4. I am married to Adrian, my second husband, but my soul mate, and the love of my life beyond doubt. He had been married before but without children. We married in Las Vegas 8 years ago in the little white wedding chapel. I wouldn’t say that Adrian took to fatherhood like a duck to water but got there in the end, but when faced with the old chop and having a child of our own, luckily he saw sense, and before long we were expecting our first child together. I wouldn’t say that it was an easy pregnancy compared to the boys because it wasn’t, and from day one there was something in the back of my mind telling me all was not right, not least the fact as 28 weeks and feeling pretty grotty I was admitted to hospital where not only did they discover that my baby was Pink (a girl) but was likely to be big, I also had excess fluid around the baby which is called Polyhydraminous. Being diagnosed with polyhydraminous at 28 weeks gestation was what I now know the beginning of the journey, a journey that at times has been unbearable, but a journey that I had to follow so that I would become the person I am today, not perfect, but different from what I once was.
Amber was born on the 22nd April 2005 by elective caesarean, this was because the sonographer couldn’t estimate her weight, only to say beyond ten pound, and having already had my first child that had got stuck coming out (shoulder dystotia) I wasnt going down that route again. Well Amber was big, but only 9lb 12ouzes slightly smaller than Nathan my other bug bubba, but she was long, at 55cm, and to be honest not all was well from day one. She was very floppy and soon after birth used to make a deep gulping noise, but as I never saw her do it, I put it down to just one of those things! She was beautiful, huge, and pink, just gorgeous, I know every mum says that there baby’s are the best they have ever seen, I am remember say it about my two boys too. She was a BIG bubba, and very very lovely.

We stayed in the hossie for around 4 days which is the norm after a caesarean, and fairly soon, there were doubts in my mind that something wasn’t quite right, I think the first was the fact that she would sleep 23 hours a day, was very sleepy, she dropped alot of weight, didn’t feed well, we spent an absolute fortune on bottles and teats trying to find something that she could tolerate, the health visitors were rubbish, she couldn’t tolerate the milk either with colic at 3 weeks that was so horrendous that we sought the services of a Cranial Osteopath, which did seem to help with also the change of the formula to Soya, and although she didn’t have the runny poo on Soya, the daily ounzes intake didn’t increase at all so the weight gain was slow very slow. I remember too my eldest brother coming round to visit, telling me about these morbid thoughts he had been having, he had been working away and it had all gotten to him. I remember distinctly sitting there with him with my beautiful Amber on my chest, all floppy telling him that it is “normal” to have such thoughts, and that I had had visions of me carrying a little white coffin! And I still think about that conversation, it was the conversation that I realised that there was something wrong with my little girl. Not long after, one morning, Adrian was working from home and I was in the usual position with Amber a child that was at this time pretty nocturnal!!! In bed, she was 12 weeks, and her arms and legs raised and lowered very slowly and rhythmically, that was the day, the day that she had her first clinical seizures, the day that when I took her to the doctors, my twin sister, the practice nurse was on duty, the day that the doctor that attended, was the doctor that had told my mum some 33 years previous that there was no way that she was having twins!, but he was the doctor that said, I am sorry there is nothing we can do for you here, you need to get her to the hospital as soon as possible. This wasn’t going to be the last time that I would hear those words “there is nothing we can do for you here!” The doctor that thought I wouldn’t share the moment of conception with another being, my lovely twin Catherine, was infact at this point in time right, there was nothing he could have done.

In a good phase! ssshhhhh.....

From our last blog, Amber has started her Vigabatrin, she is now up to full dose, and as of Saturday last week has not had a myoclonic, not one jerk! Don't get me wrong there is still activity that is there, but it is so much easier without having to worry about the drops, and her hitting her head. Long may it continue!

In that time Amber has become so much more stronger, and still sitting high on her knees, but it able to stay there for longer than 10 seconds, she is showing signs again of wanting to crawl, and it so loving and happy its brilliant. Last week whilst I was feeding her in a low chair, she stood up, couldn't believe it was great.

Amber turns 4 in two weeks, and I can't believe where the time has gone. Yesterday we had the letter from the Hospice, telling us and quote "that having heard from Ambers Doctors it is entirely appropriate for us to make use of the Hospice" the reality of hospice care really bought it home to me, and I actually felt quite sad about it yesterday. We want to be able to access it for the family, and I do believe that Amber will see Adulthood, but nevertheless, it is definately a reality check.

We have just had a really big deck built outside our living room, this means that Amber can roam freely outside in her walker, she is loving it, and it is so nice to see enjoying the great outdoors. Next week we are going camping in our new tent and I can't wait it is something we have always done with Amber and the boys and that is to have holidays whether they are just weekends away or long haul flights. You need something to look forward to.

In terms of Ambers condition, the more I read, the more I think that the treatment/cure, is something that must be glaringly obvious. I have read what other parents have said about their children, the treatments they have tried, and what has worked and what hasn't, but because the condition is so rare, but full time research into isn't quite there yet. It seems that we are piggy backing onto Rett Syndrome research which is another condition that affect mainly girls with a overlap of symptoms to CDKL5. I am sure we will get there. If I one the lottery, and hopefully the EuroMillions Lottery, I would fund the research myself. Amber is always going to be a "special girl" but to find a cure or appropriate treatment which would stop dead the Electrical Activity in the brain would be momentus! Maybe one day, with prayers and a whole heap of luck!

We have a Plan

Well last Wednesday we went for our appointment at Bristol, Frenchay. We saw the Neuro and the Neuro Surgeon about the VNS for Amber, the upshot being she will be going on the list, it is around a 12 week wait. We also re-started her first medication, Phenobarbitone, and will start the modified Atkins diet in April.

Amber was really unwell the last couple of weeks with Sickness and the other!! but she seems to be coming out of it. I think her seizures are definately better than they were on the Pheno, but because we have been battling constipation the last few days this has definately had a impact on her control. The pheno is definately making her more sleepy and a couple of times she has had a power nap of three hours!

When we saw the Neuro last week he asked us to think about Vigabatrin, it is a medication that is primarily used for Infantile Spasm. This was talked about in the early days, but it does have a side of effect of reducing the visual field. I have always been very vary of it, but having read some personal stories, I think we MAY have to give it a go, not least to rule it out if it doesn't work.

Yesterday Amber went swimming in the new sensory pool at school it was lovely to see her with her new teacher, and her teacher kept saying how gorgeous she was which was lovely. Amber hasn't been swimming in such as while I was surprised seeing how well she was kicking her legs, she really is a true water baby, always has been.

Some People Never Cease to Amaze Me!!! Not good.

Well some of you will know that we moved to a bungalow in November, so that it would be easier to care for Amber without stairs etc. Well had we have known what we now know, very very uncompassionate neighbours! we certainly would NOT have moved to the bungalow we are in. Its is staggering how some people with nothing better to do that stalk you from their front window, get themselves in such a tis without actually coming to discuss when they have a problem! what has happened is that they felt they wanted to mark their boundary despite the husband saying that it was give and take with the driveway from day one as we both have to get vehicles onto a busy main road, well all that changed and without discussing it with us, Mrs Next Door Neighbour made life hell for 8 weeks by constantly glaring at me everytime I went in and out of my house, and sometimes this could be as many as ten times a day. Till one day I went round and asked her if she had a problem, which she obviously did. Well she is the type of person that has the cunning ability to transmit without actually listening, and it was clear that conversations would not be reciprocol. They started to put a fence up the middle of the driveway which would mean that we would not be able to access to out property very well, and would definatley struggle to get Amber out of the car, and if we needed an Ambulance this would severely hamper it. Hubbie went round to discuss at the time, and later they didn't go ahead with it. He went round a couple of weeks ago to ask about the situation regarding the already dug holes, and she again went into full transmit mode!! so he walked away as it was clear that she didn't want to listen and in fact accused him of all sorts of threats, which was totally un true, not least the fact that Hubbie hasn't got that kind of thing in him. So we went into writing telling that we were applying for the Disabilities Facilities Grant, and our widened driveway should be sorted by the end of April, well this clearly wasn't enough, because today they have done it. So now we have to spend money, which we can't afford on widening the driveway a tiny amount till the DFG is complete. I am so angry and can't believe what some people are like, we respect they want to define their boundaries but when it is spiting a beautiful little girl with a multitude of problems and her family who have more than enough to worry about then they should really really evaluate what is important in life.

We were in the paper

Last week we were in the paper with Ambers story, slightly exagerated! But heres the link

http://www.thisisdorset.co.uk/westerngazette/news/Bath-graduate-taking-children-s-literature-storm/article-497701-detail/article.html

We have had some positive feedback which is nice. I think some members of the family were shocked, but that is because of there lack of understanding of the whole thing.

Reveal Magazine also want to do a follow up story, because the story I read that led me to the diagnosis was in Reveal, so I think they want to tie the two in. Interestingly enough I have been in contact with the Mum and she is so pleased that she was able to make a difference to at least one family. If I can do the same from our story I will be one happy lady.

I have been reading another blog this week, that of Julie and Rose Evett, I am a new "cyber" friend of Julie, and I really admire for showing her feelings for the situation she is in. Where most of us keep it all in the inside Julie lets it out for all of us, she is a very very special young lady and I feel privlidge to have "met" her. She tells it like it is, and tells what most of us want to shout from the roof tops. So go girl you rock x

Amber stated school!

Amber started school last week she is attending a special needs school in the Town in which we live, and will be going two afternoons a week. I am so glad about this. We commenced the statementing process last year, she isn't due to start school until September, so this is very welcome because the facilities and therapies she can access I believe will help her greatly. She managed to stand long enough for the picture!!

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........