Hope for the New Year?

Here we are nearly at Christmas and what do we want for the New Year?

PROGRESS!!!

That's all we want for Stevie.

Stevie's consultant is looking into an external Trigeminal Nerve Stimulation (eTNS) as a possible treatment for the New Year.

We hope everyone has a good Christmas and a happy New Year.

Jon

Welsh NHS - What a joke!!!

We went to the Morriston Hospital today for an appointment with a Neurology consultant and a prearranged MRI. Or so we thought. 

Waste of time and effort. 

No MRI. Incomplete notes and no copies of the notes and letters from Professor Kerr. 8 weeks minimum wait for the MRI and a month after that before we see any results.

Bunch of incompetent jobsworths. 

Back to where we were

Ok, the Rufinamide will be off Stevie's drugs in 4 weeks and we are getting back to where we were some 18 months or more ago, but not in a good way - see the next paragraph. It seems that there may be another drug option, or maybe not. We have a Neurology appointment next week, hopefully for another MRI to see what can be seen in his bonce. The last one was some 3 years ago.

Stevie's collapses are now pretty much once or twice a day and he is consequently getting hurt again as well. Some good bruises to his back at the moment.

He is also loosing ground cognitively again I think, but others disagree! He repeats himself constantly within a minute or so about everything, starts to say something and cannot remember what he is going to say. Things he knew what to do a while ago he now cannot remember how to do.

It is heartbreaking. And there is no end in sight!

However, on the good side there is a Rugby Game with the Gladiators RFC coming up against Worcester RFC on the 7th Dec on the Swansea RFC ground at St Helens and a tour to Belfast in February. Always assuming of course my body can manage it. Stephen is fine, my body is the problem!!

We shall see what happens next!!

And another thing...............

Another day etc!!

Stephen and Jan are both at work and I am here at home.

I am full of cold and grumpy...........................

I have been diagnosed with an underactive thyroid...................

Drugs for the rest of my life................................

I know this sounds bad but I have avoided drugs apart from colds and pain relief for the last 20+ years.............................

SPIT!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

Update - More medical stuff

Hi All,

We noticed some time ago that Stevie seemed to be developing a squint. I know, yet more stuff to contend with!

However we went to the Orthoptics and Opthmamology specialists today and it seems that Stevie has underdeveloped muscles on the outside of his eyes so that when he looks from close to long the muscles do not pull his eyes out from the close quarters position very well.

He copes well but his eyes "hunt" for focus when looking distance. You can see the eyes moving quickly, almost flicking. There is a medical term for this, but I tend to speak English not Medical !!!

He is due another visit to Neurology here in Swansea for an MRI in November so the Opthamologist has requested an extended MRI to look for any other problems in the eyes physical structures, just in case.

Ho Hum!

Otherwise he is fine. We are in the process of bringing him off the Retigabine as Prof Kerr thinks it is not doing much good (see above!).

He is great my son. Here is a pic from our holiday in France, one of my favourites:-

Funny...

Stevie is in good form so far today.

At the moment he is watching "Puss in Boots" on the TV and laughing hysterically often. Also he is on his feet during the action sequences jumping up and down and cheering when the good guys win!!

Great to see!!

I hope to get him rowing again soon, especially in the Celtic sea rowing boats at Mumbles. More exercise has to be good.

We shall see!

Why do I write this?

I find myself struggling..........

To understand why it is that in this day and age it seems to be acceptable that a young man and his condition can  be allowed to get worse and worse and the medical profession, when they have no idea what to do next just give up.

Prof Kerr has said, as shown in my last post, that there is no drug therapy currently available to Stevie. And as there are some unfortunate side effects from the Retigabine he has been taking expected to affect him. So he is being taken off this drug, leaving him only on the Lamotragine.

However, all while this is going on, Stevie's cognition, memory, powers of expression etc. etc. etc. continue to fail. The speed of this failure seems to be increasing and I am really, really scared.

It is horrifying beyond belief to watch your son disappearing before your eyes. He cannot now explain what he wants half the time and he cannot establish context when he is trying to tell us something. So we often have no idea what he is trying to say, what he is trying to explain, what he is trying to describe etc. It is often like speaking to someone in a totally different language with no common point of reference available. When we try to help by suggesting possible subjects he is trying to talk about, he gets even more confused and everyone gets frustrated, and angry and despairing.

No matter what research you do, there is NOWHERE it seems we can go here in the UK for progress. Prof Kerr seems to pin hope on improved imaging so we can identify  where the 2 (or now 3?) types of seizures are happening and then do something. There is the external type of Vagal Nerve Stimulation, but that still involves internal wires, not good for the MRI scans. Etc. etc. etc. etc.

All the research that seems to be pointing towards Stevie's condition and where it is going seems to be abroad, generally in the USA or Australia. Will the NHS give us the support to go abroad to hopefully get help for him? Not a chance.

Stevie's chances of treatment seem further away than ever. And his chances of improvement and any sort of decent life.

It is easy to see why I feel so despairing at times................

God it's tough sometimes........

It's been ages since my last blog, so where to start.....

Since we came back from France Stephen has been quite well but we still are no closer to any sort of resolution. We feel we are losing the fight.

We went to see Professor Mike Kerr again last week and there are no more drugs available for Stephen to use. At least at the moment. Medical Genetics have finally got back to us and the test he had (SCN1C?) was normal.  We are waiting for yet more Genetic testing results.

We simply do not know where to go next......

I swear its Swansea..............

We have been back from France for 3 days and Stevie has been in poor form.

We have had 2 sets of multiple clusters, 2 sets of 2 - 3 seizures, and probably many, many individual "absences". His short term memory is pretty much non existent. He has asked the same question 4 - 5 minutes apart a number of times the last few days.

Makes life very difficult.

I have another day of delivering Epilepsy Awareness lectures, this time to staff members of Carmarthenshire Council. Should be an interesting day, and hopefully more understanding of the condition from people in position to do something about it locally.

We shall see.............

We want to go back to France, it all seemed so much easier there.................

Holidays!

Ah well, 2 weeks into the holiday in France, the rain has started so time to Blog!

Stevie has been quite well with the occasional seizure and a cluster attack every 3 days or so.

Still to my thinking this is too much as it means that the Rufinamide seems to have lost its efficacy. Why does it seem that we are always one step forward two steps back. It is really hard to keep your spirits up when you see the full effect on Stevie.  After an attack he has no memory of what he was doing, where he is, and often who we are.
This has been awkward at times here in France as he has asked questions of people loudly in English,  much to the bemusement of the unfortunate French speaker!

More info to come when we get chance and hope you are all well out there in blogland!!

 A picture  of Stevie today while playing games in the caravan:

What now then?

Well we have everything recently. Days of no seizures, days with 45 minutes worth at 2-3 minute intervals, and variations in between!

Ah well only a few days and we set off to France for three weeks on holiday!

The Prof. tried twice to get hold of me yesterday, but as I was at work "plaiting tin" I could not answer. We need to know from him where we should go now with treatment. If he cannot come up with anything we may have to convert "Support Stevie" on Facebook into a charity and look into treatment etc. that is going on abroad. The USA and Australia seem to be the places where the groundbreaking research is going on (John Hopkins etc.) so much research needs to be done.

Obviously depending on what Prof Kerr says. Not because we don't want to "step on his toes", but we need to find a way to stop the continuing decline.

Is it the house? Is it Wales??!!

Morning all!,

It is funny the things you think of when laying in bed having a cup of tea in the morning....

Jan and I were there this morning and got to discussing Stevie's recent trip to Torquay and family there. And the fact he had NO noticeable major seizures while there. See previous post!

We got to thinking, what if there is something in or around this house that triggers the major ones? Or is it Wales? Stranger things have happened. In recent times there was an increased incidence of migraines in Cornwall which was eventually tracked down to the amount of Radon gas being produced by the granite rocks etc. underlying parts of Cornwall. I am sure that people will poo poo this train of thought, but at this point we will investigate ANYTHING!!

Quiet day today. Jan is home with a cold, Rod Stewart in on the stereo, Stevie is doing a word search and I will be doing stuff for the new project later. Guitar practice later too.

Ho Hum....................

Rant coming..........

We have got Stevie back today after a few days with his Auntie Paula and Uncle Chris in Torquay. 

It seems he hasn't had any major problems with his seizures all the time he has been away. What happens as soon as he gets back to Wales? He has a multiple cluster attack and is completely blown away. 

Why does he have to suffer, lose more and more ground and become even more dependent on the state of the NHS,  a complete disaster. 

Angry, very, very angry......

Pyschology report

Hi world,

I don't really know if anyone is actually reading this, but here we go again.

A few month ago Stevie had a Psychology assessment with the excellent Dr Claudia da Silva Martins. He reacts really well to her and always has.

Unfortunately his functioning has indeed suffered a decline as we had thought. If you didn't live with him though you probably wouldn't notice as he is existing in the bottom 1% of the population in all relevant clinical psychological areas apart from Social skills where he is in the bottom 4% of the population. Some solace I suppose.

I am crying inside as I write this. There seems to be little or no prospect of any improvement, but we have to hope or it would be too easy to just give up.

I am terrified of the future. What sort of future does he have in reality? What happens to him when we are gone? Who and how will he be looked after? I am terrified for him.

We still haven't had a reply from Social Services about organising some respite care so Stephen can return to his social club at Friendship House. His collapses scare them and they do not have the volunteers to cope. I have nagged again, but if we do not get a reply by the middle of next week I may have to go and "kick" the door in and make a nuisance of myself.

WHY is it so difficult for us to access what Stevie needs when others who have a lot less need get what they want with seeming ease?

Justice? What Justice?

A caring God? Don't make me laugh...............

Where do we go from here?

Well Stevie is now on a drug regime which should we are to maintain until after we get back from France at the end of August.

I left a message for Stevie's consultant Prof. Mike Kerr, and he wants to look at the new drug Retigabine on a stable dose over a month and see if any of the noted side effects show themselves

The side effects for this drug are noted as, and this list is not exhaustive!:-

"Very common (affect more than 1 in 10 people)

• Dizziness.
• Sleepiness.
• Fatigue.

Common (affect between 1 in 10 and 1 in 100 people)

• Increased appetite and weight gain.
• Confusion or disorientation.
• Psychotic disorders or false perceptions of things that are not really there (hallucinations) – see warning section above.
• Anxiety.
• Loss of memory.
• Spinning sensation (vertigo).
• Sensation of pins and needles.
• Tremor or twitching.
• Problems with coordination and balance.
• Abnormal gait.
• Problems with language, speech and writing.
• Problems with vision such as double vision or blurred vision.
• Disturbances of the gut such as nausea, constipation, indigestion and dry mouth.
• Difficulty or pain on passing urine (dysuria) – see warning section above.
• Blood in the urine.
• Abnormally coloured urine.
• Weakness or loss of strength.
• General feeling of being unwell (malaise).
• Swollen ankles caused by fluid retention (peripheral oedema).
• Alteration in liver function tests.

Uncommon (affect between 1 in 100 and 1 in 1000 people)

• Skin rash.
• Excessive sweating.
• Inability to pass urine (urinary retention).
• Kidney stones (nephrolithiasis).
• Difficulty or pain when swallowing (dysphagia).
• Slow muscle movements.

The side effects listed above may not include all of the side effects reported by the medicine's manufacturer."

Really makes you wonder doesn't it!

We shall see how Stevie is when we get home. He has been in reasonably good form recently, and we even have been having (albeit delayed!) incidents that can only be called teenage strops.

Hurrah!!

A Struggle today

Today has been a struggle. 

Stevie has had 2 cluster attacks with 3 or 4seizures each time 

After the last one he was very confused and talking gibberish. He also did not know who I was for a little while and then seemed to think I had just got back from work. 

If we could just get some consistency life for Stevie would be so much better. 

"Sigh"

Tired, so tired.....................

Hi,

Yet again another day of contrast.

Stevie had a very disturbed night's sleep and so Jan and I had a disturbed night.

Stevie is right in the area of susceptibility for SUDEP. Sudden Unexpected Death in Epilepsy, and this happens most often during the night. Every twitch, irregular breath (or snore!) registers with one or both of us, disturbs sleep and makes us very nervous. Hence our tiredness.

Stevie started today quite awake for all his disturbed sleep last night, but when he got onto the bus for his work he was getting slow and he had a seizure when he got to his Grandma's after work. Very dopey.

One thing you notice is that he has a tendency to revert to child like behaviour after one of his major seizures. Childish speech, lack of cognition etc. all seem to be a consequence of the colapse seizures, and this consequence is becoming more noticeable. some of this behaviour in a child is OK, but seems very strange coming from a 15 stone 20 year old!

Let us see what happens tonight and tomorrow. He has an eyetest along with us and as he has a slight squint (it seems) and flicking eyes it may prove to be a problem. Having said thathis syesight has laways tested as excellent>

We shall see.................................

Good bits and bad bits

Another week is over! A week of highs and lows, good bits and bad bits, knowledge and ignorance - Normal really!

High bits. Stevie's magnificent hanging basket for the house in apology for some grumpy behaviour, being in good order throughout the week with no cluster attacks and just a few single or double seizures and being pretty cheerful all week. He also helped me deliver an Epilepsy Awareness lecture to the members of staff of a care home.

The BIG low of the week was Stevie having a seizure while walking down the street in Cardiff with me. He stopped, head down, arms posturing and a groan. Typical seizure for him but he didn't collapse. I was standing holding him up waiting for the seizure to pass when I noticed a woman with her child look at us, grab her child's hand and cross the road to avoid coming near to Stephen. When I said "Do you think he is infectious or something? He suffers from Epilepsy, not the plague!!", she shouted (Yes shouted!) "If he acts like that, he shouldn't be let out!" And marched off with her child. Thank God Stevie did not hear that.

Some peoples ignorance is amazing and very saddening. I really hope Stephen never has to hear this sort of stuff. Unfortunately he is almost bound to.

This is what one of Stevie's seizures look like.

 



 



This is what Stevie's seizure looks like on his EEG:-

1

2

3

4

 

 Just look at these 1 - 4 and try to imagine what it would be like if this was going on in your brain!

 

 



Genetics

Another day, another set of mixed emotions...........

Stevie went off yesterday morning to his Day Service with the knowledge that I would be coming later to collect the hanging basket he had made for us to have at home.

I was not really expecting too much as you have tendency not to with his conditions etc. but Boy was I wrong!!

It weighs a ton and is gorgeous! I had to buy a large heavy duty bracket to hang it outside our front door. I should have known really as my father was really good at hanging baskets. I can remember them hanging outside of the pubs etc. that Mum and Dad ran for years.

The genetics may have rubbed off in some way, and hopefully all good!

It's a beauty! As you can see.

However when he got home and sat down for tea etc. he promptly had 2 full seizures and 3 or 4 small absence type seizures. Completely blew my good mood and Stevie has been distracted, confused and slightly difficult all evening. It is as if when he has one of the full focal seizures, his brain scrubs all his immediate memories and he cannot remember what you said to him 2 minutes ago. Or how he should behave and remember his manners..

It is one of the aspects of his condition(s) that the memory can be seriously affected, especially short term memory.

Ah well, ever onward! Stevie and I are off to the bank shortly to arrange a prepaid card for our holiday. 2 Aug and can't wait!

What is it about certain days for people with epilepsy?

Today Stevie has fluctuated between wide awake and fast asleep, sometimes within 5 minutes of each other!

This morning I had to get him up a bit early as I was due to give an Epilpesy Awareness lecture to the staff of a care home in Penarth who were going to get a new resident who suffers with epilepsy. He was wide awake to sleepy within seconds during the lecture and I don't think it was my delivery! Anyway the lecture went well and Stevie managed to have an absence seizure right on cue when I was talking about them. The mans timing is exquisite!

We had lunch and came home. I decided that then we would go for a walk around the marina in Swansea to give Lily the Lurcher some exercise.

AGAIN Stevie fluctuated between wide awake and fast asleep within minutes. He perked up no end when we saw his favourite secondary school teacher, Dave Heal cleaning his boat in the marina. We went aboard and had a great chat for 20 mins or so. Dave Heal was always interested in Stevie, his problems etc and Stevie naturally reacted to this interest throughout school and even now.

 

 



Porobably the most relaxed and interested he has been all day! Thanks Dave.

Back home now and waiting fro Jan to get home and then TEA! So far a strange day! I think we may have a collapse later. Not that there has been any trigger or "aura" to show but just a feeling...............

Intro !!!!

This is my first ever blog so I must apologise now for any cock ups, etc. and say that this is my own thoughts etc. on living with and being a parent to a wonderful young man.

Unfortunately Stephen (Stevie) suffers from epilepsy which is currently uncontrolled, and learning disabilities.

I will probably say things on here about the situations, treatments, attitudes etc. that I would not say anywhere else, so if I upset anyone, sorry but tough!


OK a bit of history first.................

Stephen was born in March 1993, premature by Caesarian. His early development seemed OK, maybe a bit slow in some areas, but his learning disabilities were diagnosed eventually and he was statemented almost as soon as he entered mainstream primary school. He suffered from attention problems which now seem to be "absences" which are a from of epilepsy. More on that later.......

He was able with support to continue through mainstream schooling, primary and secondary and despite his difficulties came out of the school system with some basic qualifications. With one glaring exception (no names, no pack drill), his teachers were brilliant with him for which we are VERY thankful. The learning disabilities are there and will be for the rest of his life.

One of the challenges.

Stephen was diagnosed with sub clinical epilepsy in 2006 after becoming regularly vacant and unresponsive for up to 2 minutes at a time after which he would not know where he was, what he was doing or what date or time it was. He got very upset as a result after these episodes.

The epilepsy has developed into full blown drop attacks (Tonic Clonic Seizures) at around the age of 16 and at their worst he was having upto 5 of these "drop attacks" a day. We are very well known in Accident and Emergency at Morriston hospital here in Swansea. We have lost doors, plasterboard walls and Stevie has been down the stairs at home a couple of times. All thankfully without any serious damage. Unfortunately the same cannot be said for Jan, Stevie's Mum. He had a drop attack in the kitchen a year ago and took Jan and a load of crockery out. Unfortunately Jan landed in the broken crockery with Stevie insensible on top of her and gashed her hand badly enough t need an operation to repair the damage.

The number of drop attacks has dropped but we still get them regularly with no warning

Another challenge.

Since the diagnosis he has been on a selection of drugs for epilepsy, the vast majority of which are derivatives of anaesthetic drugs, or have a considerable anaesthetic effect. He has had almost every drug under the pharmacological sun and we keep on trying new ones in the hope that they eventually work consistently enough to give us some sort of control.

He has had a number of EEG, MRI, 3T MRI, Video telemetry etc etc etc...........  A site of origin for the epilepsy has been found but there is another which cannot be identified. Surgery therefore is not an option. A Vagal Nerve Stimulator (VNS - pretty much a electrical brain activity pacemaker) is not an option as Stevie will be required to MRI in the future.

In the early days of Stevie's diagnosis and treatment, the standard of care he received was to our mind severely lacking. I cannot say more on here at the moment as this period is subject to legal action by ourselves. Even this is proving to be a struggle as it requires an independent Paediatric Neurologist to produce a report on this care. Due to the restrictions in Legal Aid recently introduced, there is an hourly rate stipulated for the production of the report. The hourly rate is not enough for the medical profession it seems. Our Solicitor continues to  try.

Now his consultant is Professor Mike Kerr, a specialist in Epilepsy with Learning Disabilities. We feel we are getting the support from the Prof and the specialist nurse Christine Hanson. We don't necessarily meet eye to eye or even agree all the time, but at least we feel there is someone who is trying. We will ALL continue to try to get the best and most upto date treatment for Stevie. Unfortunately this may mean we have to go abroad. Hopefully not but we shall see.

Stevie loves Formula 1. He loves all sport but motorsport is the prime one. This was obvious with his first word.

"Ford"

Seriously!! Mummy and Daddy never came close. The second word was "Ferrari".... We have taken him to the British Grand Prix twice, AND he managed to get a ride in a Lambourgini Gallardo on private land at 200mph!!!

 

Stevie and I also play rugby for Swansea Gladiators RFC, a mixed ability Rugby Union team. The most "inclusive" team I have ever found.Those like Stevie are treated exactly as anyone would be treated in any rugby team. Great fun. A picture of Stevie and I before a game below:-

 

 

 

Various other subjects will be introduced, expounded on, commented on etc. as this blog develops, but that will do for now so look out for the next instalment.

 

 

 

 

The Barnes Family at a friends wedding recently. Keep reading!