Friday, 16 December 2011

Disney is key!

I haven’t posted in a couple of weeks!  Amber had her 7 day heart monitoring and we haven’t heard anything as yet, although we had the clinic letter which I would say has sent the shivers through me to say the least.  I think however, because it is the fear of the unknown, for the last 6 years it has been neurology so the heart thing is all very very new and I definitely feel out of my depth.
She is up and down health wise, and it really is a mystery.  I am lucky in that I have a wealth of knowledge through the touch of a button, the Neurologist, the Geneticist, and even today the Specialist Geneticist that is instrumental in informing medical practice.  So today I called him at his request and as he always does he eased my pain, and to quote him “keep an open mind”, its refreshing is it to hear that from a world leader in his field because in the Medical profession this is not innate.  However, again, somehow he has brought me back to focus!
On a personal level, however, this week has seen the mini make-over of Ambers bedroom, she has grown from a baby, and is now a young lady.  However the clearing of her things, her baby things, her toddler things, was somewhat emotional.  Well huge and irrational emotions came to light.  I mean I blame Disney! As I tossed some of her first cuddly toys on the pile, I started to think, well actually Hedgey Hog was the first toy she loved and loved to bite, and pick-up, and princess doggy we loved to snuggle her at her face…….. So yesterday was a blubbery day, I couldn’t help the tears as I delivered two bin-bags of clothes and toys and belongings to the charity shop to hear the lady say “a little girl will be so happy to see all these things”, my little girl had all those things, they may not have made her happy because she might not have known the significance.  I wanted to scream that my child was special, because she is, but I left with a heavy heart, as I wanted to share it all, but I will, believe me I will, when this season is over!  Amber and I will walk into that shop and show them what happiness is! 
But you know, every Christmas as sad as it is, that I am not buying her dollies and Sindy dolls, is that she brings me the best present ever, her love, and her smiles, and unconditional love forever J  What a fantastic Christmas present I get, and its every day!, my heart is bursting. 
Merry christmas to you all. xxxx

Monday, 5 December 2011

My Precious Heart

I haven’t posted in a week or so!  Because there was something that happened last week that had me stopped in my tracks. 
We went for a follow up appointment from some extensive investigations that happened in September during a two week admission in Bristol Childrens Hospital which involved every system in Ambers body, ie neurological, gastrointestinal, respiratory, cardiac, and dietary!.   There was nothing that could have prepared me for what happened next!  I thought I knew everything about Amber’s health problems, and although I requested a cardiac work-up, I left the appointment in a daze of shock and disappointment.  When we arrived at the clinic Amber was given an ECG and an Echocardiogram, an Echo is a procedure that looks at the structure of the heart, the blood flow, the thickness of the muscles etc using ultrasound technology.  I already knew that Amber had a small anomaly that I was told about by a nurse when she was two but was told that a lot of the population live with it, and that unless she was going to be a deep sea diver, which she wasn’t, then there was nothing to worry about.  Except what I was told last week, is that in fact, she has a hole in her heart, and not what was originally thought.  Amber also has an anomaly in the beating of her precious heart, and at times her heart beats extremely fast called tachycardia.  We are lucky enough to have a great cardiac consultant that listened intently to the clinical history given by me about Amber, and was also interested in genetics and cardiovascular problems.  He was pumped! Excuse the pun….. to ensure that he gets to the bottom of her problems.
Although I asked for the referral and testing it came as a shock that we were adding Congenital Heart Defect to her list of conditions.  It felt strange that no longer was I liaising with Epilepsy Nurse specialists, but was also being given information about the British Heart Foundation from a Cardiac Nurse Practitioner.  What makes me angry, however, is that earlier this year, when these cardiac symptoms were at their worst I was seen as slightly neurotic by the local health team at our regional hospital.  I am desensitised to her extreme seizures, as I have said in a previous post, but when you walk into your child’s bedroom, in the middle of the night to check on some weird noise that she has made, and you peak through her bed sides, to see that she is staring at you, eyes wide, and not moving, and you fear the worst………. The shock is horrendous, and you look intently, stopped in your tracks, till you see her breath.   In July Amber was admitted to the local hospital for 36 hours of cardiac monitoring, following some of these uneasy events, but the monitoring was not followed up, nor was it reported on, in fact it was lost in the ether of wireless cardiac monitoring in our local hospital.  I remember at the time telling the doctor, that if I didn’t follow it up and god forbid she died from a cardiac event and I hadn’t investigated it I would have never forgiven myself, as strong as I am, I would have felt I failed her.  But they failed me as a parent, and Amber as a complex child, I feel they humoured me and didnt treat me or my daughter with the basic level of care that should be expected.
Thankfully, again, I have been given the respect, as a parent expert in my child from our specialist centre.  She is now under the radar of cardiac services, and even if there is nothing that can be done, she will be continued to be monitored probably for the remainder of her life.  We now know that if she ever has to have an operation she will need anti-biotics prior to prevent Endocarditis, a rare but serious bacterial infection of the lining of the heart.
Today I received an email from the Neurologist, saying simply “Amber keeps teaching us all the time!”  Amber certainly does, she has taught me to listen to my senses, listen to my intuition, and to never give up.  She teaches the medical profession to look outside the box, for those that are able, which isn’t always easy!  She certainly does have a precious heart, even more so now than ever before.

Monday, 21 November 2011

Sunshine and Warmth

I was out in my garden yesterday, in south west England, and I was surprised to see that my favourite tree that has moved house with us in the past, and had lost all its leaves in preparation for winter, has started to bud as it would do in Spring!  As I continued around the garden, I could see that the unseasonal weather we are experiencing was also having this impact on the Camellia’s, the Roses, and other summer flowers!  What was more astounding is that we are still harvesting tomatoes from plants that are unprotected from the weather! 
Isn’t nature just odd!  but also amazing.  Trees and plants only need warm weather to bring them to bloom, and so much like human nature too, we all know how better we feel on a summers day with the warmth on our bodies.  If only illness could be cured by only a spell of warm weather, wouldn’t that be good!  It just goes to show, that when organisms are balanced they can grow and achieve when in the right nurturing environment.   I know for Amber, that it only has to take one small thing to throw her off balance.  I see and feel this in her because she is totally dependent on me so it is like her body and well-being is an extension of my own.  Currently she is experiencing constipation issues which have a profound impact on her life, and are not often taken seriously by the medical professionals we deal with.  I have seen older people go through the same pain, those living with dementia who are unable to articulate how they feel.  In all the aspects of her condition, the pain that she experiences with this is by far one of the worst part of her condition.
If only sunshine and warmth could be harnessed and sold as a cure all remedy, then none of us would be afflicted in any way.......... wouldn’t that be amazing!  That is never going to happen, but although Amber has experiences that none of us can truly comprehend, she can always raise a smile and a hug.  I am lucky enough to have my own little remedy, as the sunshine and warmth Amber can give will beat any happy pill that is out there for the taking  :)

Friday, 18 November 2011

CDKL5 UK Launch!

Last Saturday I had the honour and privilege to launch CDKL5 UK at the Rett UK Family Weekend in Northampton.  Amazing!  Not only did I meet the most amazing families and carers, with their loved ones that are living with Rett Syndrome, a condition similar to CDKL5, but I also was fortunate to meet some new families to me that are living with CDKL5 in the UK.  Along with the Dr Hayley Archer, the geneticist based at Cardiff University Hospital that diagnosed us all, I presented, what I hoped was an information talk on what research the International Foundation for CDKL5 Research is currently undertaking.  Also I was able to launch CDKL5 UK along with Sarah, my co-parent in this endeavour.  I have met around 14 families now living with CDKL5 and I am constantly struck by the shear love, dedication, and the beauty of the families, but also how the siblings of these special children react independently with such uniqueness and compassion to not only their sibling but also the other children living with this condition.  CDKL5 UK is so lucky to have such a special band of parents that are dedicated in uniting together for a common cause, to fundraise for CDKL5 UK and for the International Foundation for CDKL5 Research.  We are able to share the highs and lows, and have a family bond that is so hard to describe to an outsider because we have this commonality with our children.  It was amazing to see some families fall into their rightful place in society because they had the opportunity to meet families living in a similar way, if that makes sense ;)

Monday, 14 November 2011

The Miracle Question?

I had such a busy week last week with one thing or another.  Although I continued to think about the topic for my next post!  So here it is!!
In the summer I attended a course called Solution Focussed Training.  It focuses on looking at a problem with a solution in mind and letting the client talk in a way, where they help to solve the problem through looking at what life could look like if the solution was solved.  One aspect to this technique is called the Miracle Question, so I have thought about what the answer to my Miracle Question might be!
In an ideal world, my miracle question might be to win the lottery and plough it all into research, or maybe to have my child cured, they would be miracles, fantastic ones, and ones that could be achievable in time.  However, I think sometimes in life you have to set yourself smaller goals, so that you can move forward to bigger and better things.  So when I look at Amber, although I would love for her to be cured, there are certain aspects of her condition that for me, are important to be resolved.   So the answer to my miracle question would be, I concluded, for her not to have any more seizures and have normal brain activity.   
My reasoning for this, is that this weekend a family member was admitted to hospital for a sudden onset of seizure-like activity.  I have seen the most horrendous seizures in that last 6 and half years, and although the seizures of my family member are nowhere near as severe as what my little girl has experienced, watching them was the most heart breaking thing I have seen in a long time.  Not because I witnessed the seizure, but more so, the shear panic that they exhibited, the fear, the feeling in their body, the terror of how their life might change.  That was the worst! Watching a grown adult feel frightened and scared I started to think how my little girl must feel.  Does she feel panic?  Does she feel the same sensations?  How does she feel when her heart is pounding?  It breaks my heart to think that maybe I have gotten used to her having these seizures having dealt with them for so many years, I so wish she could tell me how she feels!  Does she in fact feel frightened?  Or, does she feel relaxed like some do that have auras?  I will never know!   
It seems incredible that all my family that have seen my family member have these seizures over the last couple of days, has taken them in their stride because they have seen so many from Amber.  Life shouldn’t be like that, desensitised by something as so horrendous and devastating as epilepsy by a 6 year old girl.
November is Epilepsy Awareness Month, I ask you all to have a thought about these children living with terrible seizure disorders, likewise the adults, and the families that have lost loved one to Sudden Unexpected Death in Epilepsy (SUDEP), it happens daily, and anyone, anywhere, could experience a seizure in their lifetime.  As I have seen this weekend, it doesn’t care whose life it changes!!

Sunday, 6 November 2011

Life Changing!

On Friday night, there was a huge crash on the motorway not far from where we live.  7 people lost their lives and some were left with “life changing” injuries!  A terrible tragedy that doesn’t bear thinking about.  I am always saddened when I hear those words “life changing” injuries.  I have, with Amber, spent many days in hospital with her  over the years.  The specialist hospital where we go is a renowned for its Neurology services, so I have seen at first-hand what “life changing” injuries can mean to young people.   I remember seeing two boys over 18 months of admissions with Amber when she was younger, both had been in separate car crashes, and the impact that it has had on their lives was evident.  Wheelchairs, feeding tubes, paralysis, brain-surgery, loss of speech, seizures etc etc.  These boys were in hospital for around two years before they were allowed home.  I cannot image what it must be like to be thrust into a world of disability like this, through accidents or tragedy, its heart breaking to contemplate the fragility of life, we really could be here today and gone tomorrow, and if we are not gone, then we could be left with in a truly “life changing” state. 
Last year when Amber had her VNS fitted, we went to the same neurology hospital.  I remember to this day seeing a photo of the boy in the next bed up on his wall.  It was a beautiful photo, he was smiling holding a large fish, which I assume he had caught, except looking at the boy in the bed it didn’t look like the same boy.  His parents came whooshing in, got him up, ready in his wheelchair, and took him off of for walk, he was unable to speak and unable to do anything for himself.  I remember what a feisty and strong women his mother seem to be.  I recently met this family at the place where we go for respite, and I sat with them at dinner.    The boy’s mother is a feisty woman, not because it is in her nature, because after only two years of being thrown into this world of disability, through a car crash, she too knew that you have to shout get what you need, and that sometimes you have to even fight the medical establishment.    The dynamics of her family were far from what they were before her son’s accidents, but she has stood up to this challenge with vigour, and honour, because of the love that she has for her son.    I often contemplate how I would feel if Amber had been born without the challenges she has but developed them later on in her childhood like some of the people I know in “our” world of disability, would I still be the same strong person I am today? 
Life is such a gift that we have all been given, we parents with children with special needs are lucky that these children chose us.  For parents that have children or in fact any loved ones that have accidents where these “life changing” events occur, it has to be a fate!  it is the only way that I can rationalise it.  I feel privileged that in this world I have met the most amazing and dedicated parents, and they still manage to live their lives with everything that is thrown at them.

Wednesday, 2 November 2011

So what about Mum

So my journey has been a different one.  A rollercoaster, that is so unique, that every mother of a child with a disability or challenges can relate too,  but they will never truly experience the same journey. 
I knew Amber was different in the back of my mind from before she was born, and I remember the endless round of tests, the times I said well if she is sitting by 6 months, 7 months, 8 months, 10 months…… then it went to 14 month, 15 months…….but having a child with a developmental delay you just think they are going to catch up, except in Ambers case, and other children like her the gap just gets bigger.  In those early days you hope that there will be an answer, you fight for second opinions, you try endless drugs, endless therapies, hoping that you will stumble on something that might work.  Except in our case those drugs didn’t work, those second, third and fourth opinions, were not positive.  So you grieve, you begin to understand that the child you thought you would have is not the child you were given.  You either struggle, or you coming up fighting. 
Our child may not be like “normal” children, but what is “normal” anyway! she is our “normal” and today I don’t think I would want her any other way.  I love that I will always have unconditional love from her; that she will never answer me back; or stay out late; that she looks into my eyes with such depth; that I know that she is the bravest, most knowledgeable person I know, not because she has learnt Maths and English, but because she has learnt to read my soul, and she tells the most amazing stories just by the way she looks deep into my eyes. 
My life has become enriched and empowered because of Amber, I am a different person from what I was before she entered into my life.  She was been dealt this card, but she has battled to get to where she is today, she is the most resilient and strongest little girls there is.  Falling apart for me was never been an option, there were times, when it was extremely difficult, but she gave me the strength to get up every day, the strength to share her story so that we together may help others in similar situations such as our.  Together, we will hope, love and cure this devastating condition in what ever way we can!

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

Where it began

Well I am Carol-Anne,  and mum to Nathan 15, Cameron 13 and Little Amber, our special child aged 6.  I am married to Adrian, my second husband, but my soul mate, and the love of my life beyond doubt. 

Amber was diagnosed with CDKL5 in March of 2009, but it was a long road getting there, but we did get there in the end......... I wouldn’t say I had a easy pregnancy with Amber 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 big bubba, but she was long, at 55cm.  When I reflect on those early days now, I know there were signs, 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 said it about my two boys too but she was a BIG beautiful girl, and very very lovely.

We stayed in the hospital for around 4 days which is the norm after a caesarean, and fairly soon, there were even more doubt in my mind that something wasn’t quite right.   I think the first was the fact that she would sleep 23 hours a day, 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, 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.  In all this, there was a voice in my head telling me that all was definitely not OK.

One morning, Adrian was working from home and I was in the usual position with Amber a child that was by 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 she had her first clinical seizures, the day that when I took her to the doctors.  It was also the day I first heard the words "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........In fact I have heard them so many times over the last 6 that you wouldnt believe.......