Letter From Australia - 20th Sep 2011

There has been quite a substantial decrease in Robbie's mobility over the last several weeks, and this is taking it's toll on Robbie first and foremost, however the family is also struggling a bit to cope with this change.

Again his poor mobility in his legs seem to be the biggest and most obvious change, the school have now become quite heavily involved as they feel Robbie not using his chair isn't really much of an option anymore... I totally agree and understand where they are coming from, obviously the classroom environment is full of potential accidents waiting to happen with the array of desks and chairs throughout the classroom for someone not very capable on their feet, thus they have asked if we are okay with him using the wheelchair at all times within the school, unless a support teacher is on hand to assist and support Robbie.

Even using the toilet, or washing hands etc at school there is a need for assistance at all times, which Robbie has openly discussed he is not happy about, however for his own safety he needs this support, so he has been told he needs to do this, at least for the time being...

The school have also asked if Robbie can finish at 2.30pm daily as he becomes very tired later in the afternoon, which we have agreed to for the short term, the school have advised the period between 2.30pm - 3pm is basically "clearing away" time, so I dare say his education will not be affected by this change.

The occupational therapist has also been at the school to assess Robbie, and she too has backed up the schools suggestions, and also insisted when using the toilets at school Robbie needs to now use the disabled toilets (again this toilet has hand rails etc so is much more stumble friendly with an array of hand rails etc to hold on to in the event of a stumble)

Again the growth spurt continues with Robbie, it really is unbelievable how much he has shot up over the summer, and a trip to the appliance clinic was required yesterday as he has outgrown his splint for his ankle... new one due to be ready 3 or 4 weeks down the line.

Robbie has been very vocal about his dystonia of late, and will often have deep and meaningful conversations with Mum and Dad about how he feels about it, as always we just try and listen, and answer as truthfully as we can any questions he has... 

One interesting conversation we had which I would like to touch on, was where a friend from Australia (whom i have been contacted from via the blog) had sent an e-mail advising their daughter has dystonia, she is 5 years old and I sat and spoke to Robbie about this little girl with the same problem as him, and one of the chats that came out of the conversation, was the fact Robbie was genuinely surprised when I said someone else has dystonia, it obviously seemed to him he is isolated and alone with this condition, and to explain this wasn't the case, and there were other children with the same issues seemed to make him brighten up a bit and feel a bit better, in many ways I am glad he is now openly talking about how he feels and giving himself a chance to let those frustrated feelings out. (Many thanks to Julian and Marsela for the contact, I really do believe this has been a breakthrough in helping Robbie to talk about his dystonia)

Other than that it is pretty much business as usual at home, we still give Robbie free scope to run (and fall) at will at home, he still needs to burn off all his energy !!! That said we have made the house as fall safe as possible, with all sharp edges removed where possible, or at least hopefully out of harms way...

The only other news is I have e-mailed the complex motor disorders team at the Evelina, to enquire if they would like to re-run their mobility benchmark tests again, as these were done in July, there has been quite a drastic change in his mobility since this time, I have advised I am happy to take him down before the Op if they want to re-assess his mobility post DBS... now awaiting response...

7 weeks today to the op... be counting the days soon !!!

Fresh Concerns - 10th Sep 2011

Well after the last couple of weeks being so quiet, things seem to have taken a downward turn this week (maybe I was too quick in stating there had been little change over the last couple of weeks in my last post)

Robbie and I were at the Sick Kids on Thursday 8th to catch up with Dr Eunson, to discuss this habit he has developed of turning his left foot away from his body, as this, we believed was the cause for the recent increase in his falls, however when he was examined it transpire the turning out of the leg is not in relation to dystonic movements in his leg, but instead it is in relation to his mid back muscles cramping and going into spasm with the dystonia... thus he is adjusting his leg to try and regain some stability (with little success), as if he were to stand straight the back muscles would pull him backwards and cause him to fall ... this new progression of his dystonia is making walking even more difficult to Robbie along with the new pain associated with this new dystonic area, which again is really hard to come to terms with, and witness day in day out. He really is a little trooper though and fights on regardless, however this progression is clearly intensifying the pain as you can clearly see this in the little guys face when it happens.

Dr Lin from the Evelina also got in touch that evening to have a chat over Robbie's results from London, it transpires the MRI and PET scans have both come back as normal which is excellent, however the Magtsm test has unfortunately not been so good news, in that (and it is all a bit complex here) the test has brought back very slow response in his right arm and rather worryingly no response was recorded in both his legs, the Dr went on to advise this does not rule him out of DBS, but may affect the success of the implant, however on the same hand may not affect the success, it really is just a try it and see situation... This has put a whole new perspective on all our thoughts having barely come to terms with the Dystonia as yet, truly it feels like we are back to square one, with the worry and uncertainty on this journey, however we will carry on we have to try and do what is best for Robbie... I appreciate the Doctorr needed to share this finding, and appreciate he did make us fully aware, but again this does bring fresh concern into our minds, just what we need something else to worry about.

We also experienced a traumatic incident last evening where for the first time ever Robbie has been woken from sleep by a dystonic spasm, normally it was a case of Robbie fell asleep and as if by magic the dystonia disappeared  however this evening we were sitting in the living room and we heard him crying really sore, at first we ran up the stairs thinking he had had a bad dream or fell out of bed, however he was lying awake in obvious pain saying "It hurts, It hurts" and this went on for quite a length of time, to the extent I contemplated casualty we were so concerned... the spasm seemed to be coming and going every few minutes and you could tell by Robbies facial expressions these were causing him major discomfort... We tried a hot bath and Calpol, and after an hour or so, the spasms did subside and thankfully we have no repeat of this as yet... This is one of the toughest times I have dealt with thus far throughout this whole situation, it rips your heart out to hear and see your own child in great pain, and you are literally helpless to do anything other than try and comfort him and get him through this pain till it eases. To be fair Mum deals with these situations better than I as I tend to panic and stress out... thank goodness she was there to calm me down also.

We have discussed this with the Dr's and they have prescribed a further medication (along with the truckload he already currently takes daily) called Gabapentin... having researched these it seems they are used to relieve the pain of postherpetic neuralgia, fingers are firmply crossed these will help prevent any further episodes of this. The Doctor has also confirmed the date they have for Robbie's DBS is the 8th November.

On a more positive note we did attend a 40th birthday party of a family friend last night for a while, and Robbie had an absolute ball at this, being in a big hall he got lots of freedom to run (and fall) to his hearts content, he came home about 9.30pm, had a quick snack, and went off to bed and immediately dropped off, totally burnt out... He looks so peaceful lying sleeping, he is the best kid ever, and my heart goes out to his bravery and determination... Roll on November and the implant, hopefully he will get rid of this pain and get more mobility back as he is a normal 6 year old and just wants to run, play and do the things all the kids his age can do... We love you Robbie xxx

September Changes – 6th Sep 2011

Several people have contacted asking why no update to the blog for a while, in truth there has been very little change or events over the last couple of weeks with Robbie.

After the initial teething problems at school, the dust seems to be beginning to settle and a stable routine seems to be helping to calm the waters both at home and in life in general.

Other than his routine 3 monthly visit to the Orthopedic consultant there has been no medical contact from the health service whatsoever, despite me contacting his specialists secretary at the Sick Kids last week, and asking if he was to see Robbie again soon there still has been no call forthcoming to either confirm or advise (Note to self – maybe try calling again today)

Robbie has taken a growth spurt during the summer months, not only highlighted by the ever shrinking hemline on his trousers, but also confirmed by the Pediatric Orthopedic Consultant who has advised his orthotic splint is becoming a bit short in the leg, and there are some slight signs of marking on his leg when this is worn for any period of time. Thus a trip to the Orthotic clinic is to be arranged in the next week or so to have a new splint arranged.

In relation to his Dystonia, there have been more and more reports of falling at school, and even around the house he seems a bit more clumsy and prone to falling over, however he just picks himself up, shakes himself down and get on with it, the only positive slant on this is he seems to have developed a great “save” response when falling!, and very seldom hurts himself as much as he used to. There seems to be greater dystonic tightness in his foot, and this may well be the reason for the new unsteadiness he has developed.

In relation to school, and his mental work, he seems quite tired at the end of the day, he doesn’t seem to be enjoying school as much as he did in Primary 1 and again this seems to be tied in with the muscle spasms in his hand giving him lots of trouble whilst trying to grip a pen and write, he also complains a bit more in relation to sore hands, legs and back… In general there does seem to be slight progression of the dystonia, and November and his DBS implant still seem so far away, even worse we still have not had official notification of the appointment for this to happen, and you cannot help but stress and worry in case this appointment is going to fall through, and he is going to have to wait longer for his treatment.

Some may think I am wishing my life away looking so forward to November and the DBS, but I want this for my child, I want his pain to cease, or at least decline, I want to see him being a bit more able to do things… I want to see that happy little guy again on a more regular basis, I simply want what I know is best for my Son.

Sleeping Problems Resolved ? - Aug 21st 2011

After much running back and forward with calls to hospitals, and then the local Doctors, then back to the hospital, then back to the Doctors we eventually managed to speak to a registrar who could prescribe medication to help with Robbie's sleeping issues...

Bit of a long story but here goes, I made the call to the Sick Kids on Monday to try and speak to Robbie's consultant and after being passed from one department to another eventually got through to his secretary to be advised he was on holiday through to the end of August, I briefly went over the issue with his secretary, and she advised she would have one of the registrars call me back once they had finished their ward rounds later in the day, sure enough on Monday afternoon around 3pm a call came through and it was indeed the registrar, she was quite thorough with her questions, and we established that the problem seemed to be due to Robbie struggling to get to sleep and once he was sleeping staying asleep wasn't an issue... She agreed this was an issue and confirmed she would trial him on a low dose of Melatonin (2mg) this was to be given before Robbie's bedtime and would help induce sleep. 

Research online has brought back that this is a natural hormone produced in the pineal gland at the base of the brain. The drug hastens sleep without the hazards or side effects of sleeping pills. 

Then I had to call my doctors, and arrange when the doctor would complete the prescription, the local surgery said they hadn't received the fax as yet, and I was asked to call back the next day... another restless night lay ahead... On the Tuesday morning again I called the local surgery only to be told they had not received the fax as yet, I called the registrar who assured me the fax had been sent and received, and so it went on till 4 calls later the fax was resent and the surgery eventually advised they had received this, I was to pick up the prescription Wednesday morning, sure enough another restless night again !... I did manage to get the prescription on Wednesday morning a Robbie took the medication on Wednesday evening, he went for his bath at 7.30pm when the drug was given, bed at 8pm and he was still awake at 9pm, as I had gone up to speak to him, he did appear very drowsy, and sure enough 10 mins or so later he was fast asleep... fantastic, this was the first time he had been asleep this early in months...

The only downside was seeing him in a what can only be described as a drowsy, semi-conscious state, as it didn't feel right for some reason, but regardless this is being done for not only Robbie's but his siblings benefit also, after long deliberation my wife and I have decided we will only use the Melatonin on nights where Robbie has school the next day, so he will get a break from this.

Other excitement this week was back to school, Robbie at first, seemed reluctant to be going back to school, however quickly changed his mind once the day to return came and was up with the larks for his first day in Primary 2, where a new teacher and old classmates were there, and again we could settle back into a routine.

There have been a few "teething" problems in the first week back, and a meeting with the school has been set up for this week to discuss our concerns as highlighted below - 

Support Teacher - It has come to light the school had advised Robbie's support teachers hours had been cut, and the school had never thought to inform us as such, despite the fact on the last two meetings with the school prior to the summer break I had raised concerns that Robbie may have issues with the changing of classes and teachers, (He doesn't seem to take very well at all to change, I believe this may be another effect of the Dystonia), however as his support teacher (Mrs McDonald) would still be there the transition should be okay as he has a familiar face around... when we arrived on his first day Mrs McDonald was there however informed us she had been told her hours would reduce, and she wasn't sure who would be there in her place when Robbie arrived for school... I called the school regarding this and they assured me there would still be a support teacher, however couldn't advise me who at this stage ? When we arrived the next morning there was a teacher who said she was there for Robbie, but she wasn't sure if it would always be her ? - You can imagine this will be one of my main discussion points at this weeks meeting with the school.

Lunchtime Pick Up - The next day we went to the school to pick up Robbie at lunchtime to find him standing struggling to put on his jacket in the cloakroom unattended, the rest of the class had been taken to the dinner hall, and Robbie was on his own... this certainly upset me as Robbie struggles to stand unaided, and I certainly do not expect my child to be unaided at any time, especially on his own. An apology was given  when I went to pick up Robbie in the afternoon and I was told this was a mix up with times... This is a situation I will not tolerate happening again.

Water Bottle - On Friday, as we were running behind schedule, I got to the school with Robbie, and realised I has forgotten to pack his water bottle, when I spoke to his teacher she stated "well he will just have to do without" !!! I went straight to the school office, told them Robbie was on medication and advised I had forgotten his water, to which the school secretary responded "Not a problem, I will take water through to him" - Why couldn't his teacher have done this ?

Wheelchair - Robbie's teacher suggested to me that I take Robbie in through the office every morning as he has his wheelchair with him, (He isn't actually in it at this time, it is taken with him in case he needs it) I advised I wasn't happy to do this as I wanted him to be part of the class, and line up with his schoolmates at the start of each day, the teacher said "That is fine as long as you are here every morning to lift it in" ? 

Overall, to say I am rather annoyed at the school and their apparent lack of care this year compared to the teacher he had last year is an understatement, and one issue I hope to get resolved tomorrow... I do not know how aware his new teacher has been made of Robbie's needs but things need to be discussed and I have no issue raising my concerns where Robbie is concerned.... Okay folks rant over, and a new week dawns...

School Update - Just thought it best to add an update, we have now been to the school and these issues have been fully raised and addressed... hopefully we have seen the last of these problems. To be fair to the school, they were very quick to respond to my concerns and we are all satisfied the issues have been resolved :)

Sleeping Problems – Aug 15th 2011

Again, this week seems to have been a long week, with Robbie still seeming to struggle a bit more than usual.

Robbie is still being severely affected by his arm and leg twitching when he goes off to bed, where originally a hot bath seemed to relieve the dystonic movements for a short while, whilst he dropped off to sleep, this no longer seems to be the case, and Robbie has real difficulty falling asleep in the evenings.

Our hope is this is due to a mixture of school holidays, (being out of a normal routine) and all the excitement of having free time during the day, and the poor weather where Robbie hasn’t been able to get out as much as he normally would during the day to burn off some energy, although with the reasons given above, I am not totally convinced this is the case, and my deepest fear is this could be part of the natural progression of the dystonia… time will tell.

Robbie is back to school tomorrow so at least a standard routine will be bought back into his day to day living, and fingers crossed as he settles back into his routine things will go back to their original state.

My Wife and I will be phoning Robbie’s consultant in the Sick Kids tomorrow to try and arrange an appointment for him to go back and see the specialist about these sleeping problems, as the poor wee soul constantly toddles around looking tired, and is constantly a bit irritable, again this could well be a vicious circle developing as a side effect of the dystonic movements, regardless as this sleeping issue has been apparent for a few months now it doesn’t seem to be getting any better, so feel it best to seek medical advice.

Other than Robbie being affected with the sleep issue we also need to give thought to his siblings as they are not getting a steady sleep routine, as when Robbie is up, that is pretty much the case for the whole family !

In the evening when the twitches start happening Mum will often go and lay down with Robbie, and it is rather sad to hear him saying “Sorry” because his arms or legs keeps moving, it tears on the heart strings to hear him apoligising for something he clearly, really has no control over… again we feel helpless, and struggle to deal with this issue as we cannot help other than reassure him we are there for him for a cuddle when he needs it.

The really ironic part of this small chapter is once he does actually drop off to sleep, the dystonia disappears, and the contractions seem to simply stop.

I am not a religious man, as I have stated previously, but I pray for the days to hurry up and pass quickly so Robbie can get his DBS and some relief from this affliction he has.

Certainly I know there are a lot of children out there, in a much worse condition, however I am sure you can all appreciate as a parent your child is your own, unique, primary concern, and it causes so much pain to see your child suffer in any way…

Regardless when he turns to you and smiles, with his big cheesy grin, your heart melts and you know inside, we will get through this regardless of what comes in the future, we will be with him every single step of the way.   

Message To God and Skydive - Aug 7th 2011

Here we are a week down the line since our return from the Evelina, it has been a long week, and Robbie seems to be struggling a bit more than usual with his mobility since his return to Scotland.

I think this could be due to a variety of reasons, from the initial anti-climax of leaving the medical environment where he was constantly given full focus and attention, to going back to the home environment, where perhaps the focus needs to be more shared amongst all the family, alternatively it could be due to the hotter than normal weather taking it's affect on the Dystonia, then again, maybe it is just appears this way as we are now more aware of his dystonic movements, and the effects they have on his stability and mobility.

He has also had a few outbursts this week, and seems to be mainly down to him becoming more aware of his inability to perform everyday things as quickly or efficiently as his peers... this seems to lead to frustration within Robbie, and he does seem to be becoming more prone to quite angry moments. Patience has to be the key here, although it can be difficult at times to remain patient...

I would like to share a perfect example of self frustration Robbie is currently experiencing, early in the week Robbie was playing with a mobile phone, and a very interesting and thought provoking small discussion took place...
Mum asked "What are you doing"
Robbie simply replied "sending a message to God"
His Mum then went on to ask, "Okay, and what are you saying to him"
Robbie replied "I am asking him why he gave me twitchy arms and nobody else has them"

As you can see, from the above very short conversation, Robbie is obviously very aware he is a bit different from other children his own age, and this is really affecting him. I am sure through time he will come to terms with this, however it is painful to watch him becoming more aware of his condition and difficult to cope with both from his perspective and from a parent's perspective... Roll on DBS to try and help him on this aspect and allow him a bit more movement and control.

Overall Robbie is still getting along reasonably well, and no other problems to comment on at this moment in time.

Yesterday (6th August 2011) the whole family attended a skydive arranged in aid of the Dystonia society, the jump was done by a family friend (Jill O Donnel) who kindly arranged the jump, and went ahead and took the plunge into the big blue sky from 10,000 feet. (Braver than me by the way)

Not sure how much has been raised in total as yet, however this will be updated when we have the final confirmed figure. Hats off to Jill for taking the plunge, as similar to ourselves she was totally unaware of Dystonia prior to Robbie's diagnosis.

Other than this, it has been a relatively quiet week, apart from the standard back to school shopping for Robbie, as the schools go back in a couple of weeks up here. Looking forward to it as this occupies Robbie's  mind and keeps him busy...

Still no confirmation from the Evelina on a date for the DBS as yet, to be fair I didn't really expect to hear this quickly, however cannot help but feel a confirmed date on paper would make this process much easier to deal with as it would give us a confirmed date to look towards.

Day 5 of 5 - Psychological Assessments and meeting the Surgeon - 29th July

Another busy day ahead, and to kick off proceedings on the final day we were to meet with Tamsin the Paediatric Clinical Psychologist.

Her task was to take Robbie through a series of assessments looking at psychological aspects of Robbies cognitive development, this included a series of tests looking at memory, mental planning, which included things like  memory games, reading and describing pictures, knowing the similarities between things (like milk and water for example) matching pictures, puzzle/task solving, identifying missing parts from pictures, facial recognition etc etc etc. However once again in the unique style of all Robbie’s assessments this week they were done in the manner of a fun thing for the child  to do, and again Robbie seemed to enjoy doing these assessments, as always breaks etc were taken as and when Robbie required them.

Then it was back to doing the 6 minute walk test as was done a few days earlier this time without the aid of Robbie’s orthotic splint.

Next up Kylee and Lesley both did a few finishing off tests which hadn’t quite been completed on the previous couple of days, again this demonstrates the team at no time pushed Robbie too hard and the childs comfort was foremost in the whole teams mind.

In the afternoon we were to meet up with the surgeon who would be performing the procedure, Mr Richard Selway (Consultant Functional Neurosurgeon) when we met I knew I had seen the face before and it turned out I had indeed seen the surgeon in a conference regarding DBS which the Dystonia society had gave us, in which he had been one of the speakers. He is a very approachable person, as are all the team at the Evelina, and no questions we had were unanswered and we were very comfortable to ask what we liked in front of this team, overall the team that are going to do Robbie’s DBS have all really gave us confidence in the procedure, and both Jane and I are very keen for this to happen as soon as possible.

One of the really postive things about the week was all of the professionals we had dealt with gave feedback on the initial findings of their assessments at the time, so it wasn’t the case Robbie was tested and we got no feedback, the team shared their findings almost immediately, which was a real change from standard medical practices I have dealt with elsewhere, albeit some of the news (which rather surprisingly we hadn’t realised or aware of) certainly hit home, never the less it was really good to be made to feel so involved, and the feedback was given in very easy to understand terms without the use of  medical jargon thus we could fully comprehend their finings. 

Personally I believe the thing I have learnt most from the week is the effect Dystonia has on other functions of the body, and how it can help to hinder the planning process in the brain for everyday tasks most people take for granted, the fact that Robbie struggles to co-ordinate both his right and left hands together, and the process behind why Robbie finds it so difficult to stand still with feet together. The reasons why he sometimes struggles to get words out, and possibly the reasons why he struggles to understand what is being asked of him, leading to frustration on all sides, and it has taught us Dystonia is not a stand alone condition and many “other” problem areas can be caused by the condition. 

We look forward to getting the implant done, with a view to therapists, teachers and ourselves then working with Robbie and addressing any further help he may requires to get his use of language, understanding and motor skills back to a reasonable level… one day at a time…

On reflection of the week that was, my personal highlight was not only having the privilege of meeting and working with this team of absolutely dedicated professionals, but also meeting the young lady who had already had DBS, she was truly inspirational to us, what an amazing story she had to tell and I believe this was because we could so closely relate this to Robbie, albeit her dystonia was more severe than Robbie by the time she had her op, and hopefully a few weeks, months and even years down the line I would like to think that we as parents could help others, or better still Robbie will be able to tell his story and help others.

Finally we headed away from the Evelina, however are looking forward to the day we travel back for the surgery, whilst daunting and a bit stressful, I am now fully confident we are making the right choice for Robbie in going ahead with the implant, whilst his condition will never be cured, it will certainly be much more manageable, and his quality of life will improve.

In fairness as we expected it was an absolute rollercoaster of emotions ranging from really ecstatic to slightly devastated at times, however I suppose this is what “life” really is, and you got to get through some real lows, to really be able to embrace the highs, first and foremost though we have left the Evelina even more optimistic than when we arrived.

I really cannot recommend this team enough to you, if you need the help with any complex motor disorders, I am sure I have been fortunate enough to be seen by probably the best team of medical therapists and professionals in the world in their chosen field, Evelina and it’s staff I thank you from the bottom of my heart.

Back to Sheffield tonight to stay at Les and Sonia’s (thanks guys for letting us use this as a half way house) then home to sunny Scotland in the morning, Robbie has requested his favourite dinner this evening, so off to the Chinese for us, then back to my wonderful couch (Oh I so missed this)