What a week!!

The beginning of this week was pretty uneventful. Although Amber's seizures seems to have got worse again, and the only thing in her diet has changed has been yoghurt. Because Tesco's ran out of the brand she can tolerate, a sheeps Greek yoghurt. So I have been busy trying to sort out the supply chain on that stuff.

To cut a long story short too, I fell out with Ambers physio in April, when I say Amber's physio she didn't really do anything, her belief is that you can't give Physio to a Epileptic Child! but that is for me to rant on another time....... Anyway, I asked in nursery last week whether anyone from Physio had seen her since April, and the answer was no, so up I climbed, back onto that high horse once again, like many of us mums do on a regular basis. Then I was told on Thursday that a new physio would see her Friday which she did and this would then follow her into school, so it was a small triumph to round the working week off. I also organised our first trip to the Wheelchair Clinic which is this coming week, to see if I can get a suitable buggy/chair for Amber, as she really slumps in her MacLaren.

The house move is going well and we hope to move at the end of October, to prepare for this Saturday we thought we would go to Taunton to look for new furniture. Then on the way back, I unfortunately wrote the car off!!, we were on a country road and a elderly lady pulled out in front of us, I wasn't travelling that fast, because I was in the that, is she, has she of course she has seen us scenario, but then it was too late. I had swerved, so the damage on her car wasn't too bad, unforunately ours is a write off and my son Cameron (thing 2) was injured. The seat belt (middle belt) didn't save him from moving forward and he hit is head on something, so he has a broken nose and cuts to his eye lid, the rest of us are OK, apart from whiplash and bruising, but what a lucky escape. Amber bless her, dropped her bottom lip but was fine as soon as I got her out of the car. A very frightening experience, especially the smell of the airbags, so as soon as we stopped the car, it was out out out. There were some lovely people that came to our rescue which was really nice.

Saturday morning we received a copy of the referral letter for GOSH to see Metabolic Man, it was quite an interesting read, as one particular test I assumed was normal stated that "My understanding is that, despite some possible abnormalities, we do not feel she has a neurotransmitter disorder or a respiratory enzyme problem" It does make me a bit angry because if they were not sure on the neurotransmitters, especially as problems are very rare, then they should have sought advice on the results alot sooner, and not nearly 14 months later! still at least we are being referred now. He also went on to discuss a condition, that he had mentioned so many times before which I think he has a strong suspicion off, again a rare condition. I shouldn't complain I don't suppose, because we have had an aweful lot of investigations, and the next lot will be haematology. So now it is the waiting game, waiting to see the postman in our street, popping home in the middle of the day to see if he has been, getting frustrated waiting for an appointment, and no doubt and knowing GOSH, ringing admissions, waiting on hold for twenty minutes, and then getting a appointment in three months time!

Still we are nearly there. I suspect I may update you sooner than a week.

This weeks blog.

Well the start of last week wasn't too good. Me and Adrian both came down with colds, when I say we both, I mean I had a cold, and Adrian had the flu naturually!!! Anyway, thank goodness for grandad, as I crawled to the edge of the bed to pick up the phone to dial for SOS, he was awake and came and took Cameron to school and Amber to nursery. We are normally quite well people, and it just goes to show how difficult life can be when you are both ill, and life has to go on!

Amber continued to be brilliant, and towards the end of the week, her seizures were down to just one cluster a day, from 3-4 so that was brilliant. However, Saturday I thought I would grab some me time and sped off into town to do some window shopping, only to return to find that Adrian had made her her dinner, and it was lovely, but not the restricted diet that we have seen these big improvements from. So the upshot, 4-5 seizures on saturday, wouldn't eat yesterday and 3 seizures and generally not very happy and lively, to today, just as I was about to get her out of the car, full blown vomit!! so I fear all my good work last week, may have slid back to square one. She was so bright and alert last week it just goes to show, with whatever metabolic madness that is going on inside her little body, it needs to be treated consistently, and the slightest little upset can get us so badly off track.

The house move is going forward and hopefully we should be moving in around 8 weeks, so that is a big load off my mind. I don't know however, how we are going to fit this house into the bungalow, which is alot smaller. We have to put an extension on but that won't be immediate. The social worker has just come round to, and to my surprise, we are going to get 2 hours home help for 6 weeks, and 3 hours a week Direct Payments. So much better than last time.

One last thing that I nearly forgot to mention. The week before last I contacted a charity called the Muir Maxwell Trust because I knew they provided free of charge seizure monitors/alarms. Anyway our voucher came, and all you do is get a one of your health team to sign the form and then send to the company that provides the alarm. The alarm isn't actually appropriate for Ambers types of seizures however, but very good for noctural tonic/clonics etc. The lady at the end of the phone was very helpful. The web address is http://www.muirmaxwelltrust.com/.

Well thats all from me

This blog is quite long, they won't always be like this...

This blog is quite long, they won't always be like this! It has been quite an eventful week all in all. Amber had not been herself for a good couple of weeks with more severe seizures, and a type that we have not seen since March 2006. I had sent the Neuro an email detailing my concerns, as she had a big tonic on the Sunday, and he rang Wednesday. He suggested that we give Amber a Benzodiazapam drug called Clonazapam for a couple of weeks to see if we could get her over this bad spell, so I got some from the local Hospital Pharmacy, Amber has not been medicated except emergency medication since April and I was a bit reluctant to start it. We had already taken her diet back to the bare minimum which normally would get her back on track (undiagnosed metabolic disorder) but this time is was taking its time. Luckly I did wait before giving her the medication because the next day she turned the corner, and has been brilliant ever since, the seizures are still there but no-where near as severe as they were so that is good news!!

As I said last week I had the social worker, health visitor and community nurse coming to discuss a care/needs for us. I think it was a good idea going in mob-handed to the social worker. She went away with a huge list, that will be confirmed this week, it included personal assistance around the home, direct payments rising to two hours a week, still not enough from my point of view, respite for the family at the Chalfont Farm Hospice near Bristol, and was going to approach some charities about donations for travel and equipment etc. So all in all not a bad outcome!

We still haven't been referred to Metabolic Man, as the neuro is still waiting for some consolidated lists of all the tests Amber has had done, but I hope it won't be too long. Some of you reading this will know of the frustration of waiting for referrals and appointments. You think you are getting somewhere, have the appointment and they say "well we will see you in 6 months" gggrrrrrrrr I hate that.

I have done a lot of thinking this week, wondering what the future will bring for Amber, I guess what will be will be, we will continue to do the best for her, and continue to seek the diagnosis which I am sure will happen, she brings so much joy and love, and when we have these good spells she gives so much back. I spend everyday with her, and marvel in the little achievements, nobody sees what we see, and that can be frustrating at times, because we know what she is capable of. I was looking at the contact a family competition for a family story, I don't think I could fit into 3 minutes of a video, what life has been like for us. So I want to share this with you. Our first second opinion appointment to a London Hospital was in August 2006. This was the turning point, and the reason I have not given up in trying to find a diagnosis. Amber had a seizure whilst we were in his office. He had seen her for 3 minutes, and made a snap diagnosis, I had told him it had been ruled out, but he made it anyway without any EEG or MRI evidence. He started to discuss medication options, and added a comment about driving, that Amber wouldn't be capable of driving anyway. When I questioned what he mean't he ask me if I wanted him, to use his words, "spell it out". A bit shocked I said "er well yes"! he then went on to say that I should think myself lucky that Amber was only on 2 drugs and not six like some of his patients, he went on to describe the future, that she would be bum wipeingly dependant to well into her teens, that we shouldn't concentrated on teaching her to read and write but to dress herself, we should commence her educational statement requirements (she was 16 months at this time), and that although the medication he was suggesting could lead to cortical vision problems, that was the least of her worries. I ask him was he sure and he said "I am 80% sure I am right". So I shook his hand, and said, you could be wrong, and left. I spent the next week, proving he was wrong, which he was. This was the turning point for me. I was never going into an appointment unprepared again, and haven't since. I read what I can, I try to understand the terminology, I go into every appointment with research papers and possible tests that haven't been done. Luckily, from a snow ball affect, fate has given me the best team for my little girl. If I hadn't have questioned that doctor, then I am sure I would be dealing with a very different little girl than she is today. Sometimes you need to be shown the worst case, which in a way I thank that doctor for, to enable you to push on, and it shows us we should never stop hoping or trying to find the best for our children. That particular doctor is renowned for his bluntness, which I now know, and actually I can laugh when I tell other professionals about him. Two years down the line we are waiting to go back for third time! Neurology have come to the end of the road, and thankfully I am confident that no stone has been left unturned. Our Neuro said to me the other day, its parents like me that get the tests done, because we insist. But it shouldn't have to be that way should it, it should be our given right! Luckily with the internet, there is a vast amount of information we can access and support groups are growing, we "parents" are getting more educated about our children and their medical needs, thankfully we share stories, we share the highs and the lows, and we hopefully help others with the knowledge we have gained. No parent should ever been afraid to question a doctor, no parent should ever feel unsure about putting a piece of paper in front of a doctor and saying "well have you considered this", with this growing medical resource at our finger tips it SHOULD be expected.

Our journey so far...

Well here is our first blog! I will start with our journey so far.

My name is Carol-Anne. I am married to Adrian and mum to Nathan, Cameron and Amber. Amber is 3 years and 5 months. She was born OK but at three and half months started having seizures. From then on it was noted she had hypotonia (low tone), mild developmental delay, and a few blood problems. Basically, the picture now is that Amber has uncontrollable epilepsy and currently not on any medication, hypotonia, severe developmental delay, non-verbal, does walk but moves around the floor, eye movement problems and dystonia in hands and feet. We currently do not have a diagnosis, and have been through the whole range of testing that is currently available. We have been to Great Ormond Street Hospital (GOSH) twice, but to no avail, but recently were called from our home on Somerset to Newcastle Royal Victoria Infirmary, at the Mitochondrial Clinic, where we have been given a secondary diagnosis, but to what we don’t know!

Amber has had five MRI’s all of which were normal. The next round of investigations will involve bone marrow biopsy. We are also waiting to be referred back to GOSH, this time to see a Metabolic Specialist, herein known as Metabolic Man.

Amber attends an Opportunity Group, and will start at a Special Needs School in January. I have just gone through the statement process, which was pretty painless, so she can access more services. I have decided for her to go to school early (was due to start Sep 09) because at the moment I feel she is not getting the support and therapy she needs. At the moment we don’t get respite, or social service input. At the end of last year I was awarded 2 and ½ hours every other week through direct payments, and it seemed hardly worth the trouble, and the time was not right for me to organise it all. I have the social worker coming round Wednesday this week with the Health Visitor and Community Nurse, so hopefully this time we will not be short-changed, which I believe is due to having no diagnosis and their lack of understanding of Ambers condition. I will update you all next week.

Also on the horizon is a house move. We have just sold our house and are purchasing a bungalow, it was a struggle to find somewhere suitable for all of us to fit, and we are down-sizing, but it has the key attributes of a bedroom for Amber and us on the ground floor with a large bathroom. So more to come on that too…

In terms of Ambers health, the first three weeks of the summer holidays she was brilliant, seizures reduced, increase in cognition and strength, but then a couple of week ago, for no apparent reason she is back on the slide. I am sure some of the parents reading this will know what I mean when I say make large strides forward, that sometimes are only short lived! And how frustrating it is. I am waiting for a call from the Neuro, to see what the plan of action is. She isn’t medicated at the moment because nothing works, so my gut feeling will be to re-start Amber on the Ketogenic Diet.

As for me, I don’t work, apart from being a full-time carer! I am on a quest that I cannot deny, and hopefully you will all be able to share my journey from now on, it’s a long road, but I do think finally we are starting to get somewhere.