The Oxygen Junkie - Guest Post.

Fran aka The Oxygen Junkie has kindly written a blog post about Max and Disability Rocks. Fran may be only 14 but she is wise beyond her years. She has recently got through to the final 3 in the Amnesty International Young Journalist of the year. We are very proud of her and wish her good luck for the final on the 8th May. This is the post Fran wrote for her blog

Disability really does rock.

Ladies and Gentlemen, lend me thine ears!

This post is about disability.

Disability can be many things. It can mean a physical disability like paralysis, or motor neurone disease, or it can be a learning disability like Autism or downs syndrome. There are some disabilities with obvious symptoms, and some that aren't that visible.

I guarantee you though, that you will not regret letting someone disabled into your life. 

I know a little boy called Max Sutton. He is the most amazing child  you could ever wish to meet.

 

He loves cricket, badminton, his hamster Leo and standing in his pants like he runs the world.  Not even Paul McCartney has as much swagger as Max Sutton does.

(Read all about him at www.mumtochromoboy.blogspot.co.uk) 

Max Rocks. He knows he does. And Max thinks that disability rocks. Which is why his parents, Caroline and Richard Sutton have created a festival to rival the mighty Glastonbury. 

After having a bit of an epiphany whilst on holiday in Ibiza, Caroline and Richard realised that there weren't any disability friendly music festivals in Yorkshire, and decided to do something about it. 

Tickets are only £15 (£10 for young people and disabled folk) and the line up is spectacular, it has everything from bearded men with guitars, to witty comedians, to drum workshops to a 5 piece Jazz band.

All situated in the best place on earth; Nell bank, West Yorkshire.

http://thelunaticshavetakenovertheasylum.blogspot.co.uk/

Boys and Fire

Fun in the garden.

An impromptu decision by Richard to burn some rubbish in the garden made two little boys very happy. Max can be so loving and playful and he is never happier than when playing with his friend from next door.There are days when you think things will never get easier then we remember that a year ago Max would have to be closely supervised, the play session would have probably ended with Max attacking his friend. His social skills and ability to communicate are really improving and now he is able to play without becoming angry and frustrated. It makes us so happy to think that Max can now play and interact well with other children. Strangely I think it is the added confidence that he has gained from going to Special School that has helped this progress.   

Acceptance or hope?

Those of you who have read my blog about the early days with Max, will know that at around the time of his first birthday it became obvious that he wasn't following a typical developmental pattern. In the space of a few weeks a bombshell was dropped on our calm and carefree  life. We began to juggle a variety of appointments and started hearing medical words spoken about our little boy. Words like hypotonia ( low muscle tone), dysmorphic features and developmental delay soon became part of our everyday lives.
 Not a week went by by without some form of appointment and often several. Max was seen by a Pediatrician, Neurologist, Psychologist,Occupational Therapist,Speech and Language Therapist,Audiologist,Orthotist and the list went on. In fact I felt that we were going for some kind of record to see every "ist" that existed. Our beautiful little boy suddenly seemed to become the focus of many Professionals attention and each one bought with them their concerns about what he couldn't do. It was rare for anyone to say anything positive about him and suddenly the things we had regarded as positive became an issue. His placid nature and passivity which was to us a bonus became a problem. His cuddly soft relaxed limbs became hypotonic or floppy.


 I can remember experiencing a variety of different emotions. They ranged from fear, what did this mean? what was wrong? was it serious? life limiting? degenerative? Would he ever walk? talk? go to school? ride a bike? I played the trade off game in my head, tried to work out what I could cope with and what I couldn't. Ironically the thing I feared most was learning disability. Some days I felt desperate, others I just got on with it, sometimes I would dip my toe into the world of special needs only to feel guilty and like we didn't belong there, yet it became increasingly more apparent that he wasn't like his peers either. So where did we belong? Where did we fit in?.


Each appointment bought with it a hope that maybe this time we would be given an idea of what was wrong, what was causing his difficulties and how we could help.  Each appointment was stressful and disappoiniting, Max often didn't cooperate with the Therapists and sessions turned into battles. I would ask questions like "will he ever walk" and "what does this mean" usually to be met by responses like " we are not sure, yes probably, but he is very floppy". At the time I remember feeling that it was all some kind of strange power game and that really they all knew what it meant but just didn't want to share it with me.

Max aged 2 years.

Looking back I now realise that they geninely didn't know how Max would develop, or what was causing his difficulties and what that meant for the future. One thing I do wish is that the Professionals we came into contact with had been clearer with us. I wish they had explained that although they were unsure of exactly how Max would progress that it was very likely that he would go onto have some form of learning disability. Instead over time this concept slowly became more obvious to us. I wish they had had the courage and confidence to share their experience and intuition. I wish more than anything they had encouraged me to enjoy him and to hope and to hold tight to that hope and never ever give up. Instead I think they confused hope for lack of acceptance. They viewed our quest for additional and alternative therapy as a sign that we couldn't accept Max's disability. 




Over the years I have processed many different emotions in my journey to understand and accept Max's disability. There is however a recurrent theme and that is the difference between acceptance and loss of hope. Max has a lifelong neurological condition, it will never go away and there is no cure. I accept this and even if I wanted to I couldn't change this. Accepting this is not the same as giving up hope. I still have hope, dreams and aspirations for him. I want more than anything for him to lead a happy, fulfilling life where he is accepted and loved. There were times when we wondered if he would ever walk,talk,run and ride a bike. He has achieved these things and many many more. I accept Max unequivocally for who he is but I will never ever give up my hope.

Life goes on

When I last blogged it was about the emotional turmoil caused by discovering that Max's condition is much rarer than we had previously realised. The gut wrenching moment when the reality that your child's condition is very real, very rare and very significant hits you again. Of course this is not the first time that we have had to process unpalatable information about Max, but each time it feels just for a few days like you have taken a huge step backwards.
I think it's probably made worse in that a lot of the time we live in a bubble. We just get on with dealing with the here and now and don't allow ourselves to dwell on what the future holds or the true reality of our situation. It's our coping mechanism and most of the time it works quite well but it does mean that when reality does slap you in the face, it still feels as shocking and as raw as it did in the early days.
 Fortunately I seem to be have gained an ability to process things and bounce back pretty quickly. Being able to write about my feelings in the form of this blog helps and over the years I have learnt not to dwell on negative thoughts and to try and see the positives even when they sometimes seem hard to find. I am lucky that Richard and I are able to express our feelings openly with each other and we are in the fortunate position that it rarely causes disharmony. One thing that I do feel is useful is if we both receive information about Max at the same time. Obviously this is not always possible and can be very time consuming and impractical, but if at all possible attending conferences and important appointments together means we both hear the same information and are therefore able to then process and discuss it.
 So life goes on and we both seemed to have recovered our joie de vivre, put our heads firmly back in the sand and got on with caring for Max, planning for Disability Rocks and the many other jobs that occupy our time.
 Richard was recently appointed as Regional Parent Rep for the Yorkshire and the Humber region on the National Parents Forum. He attended his first meeting in London and felt privileged to be able to contribute to a Forum that influences National Policy in relationship to Disabled Children and their families.
 Max's behaviour has been much better I think mainly due to the warm evenings and him being able to play outside when he gets home from school. This is a bonus we never take for granted, the tangible relief felt at the end of a day when Max has only had minor outbursts is amazing.Every day is a bonus when things are good.
The card Max wrote for me at school was the icing on the cake! 

One in a Million

Last weekend we travelled to Birmingham to meet up with a group of other families with children with Chromosome 16 variations. We were fortunate to have two members of the Swiss research team in attendance. Professor Jacquemont and Anne Maillard had kindly agreed to do a presentation about their research findings into copy number variations (CNV) on chromosome 16. http://www.facebook.com/profile.php?id=100003110804345&sk=wall When the meet was initially arranged we intended to organise a carer to accompany us.Max isn't good in groups ,particularly if there is a lot going on and we knew it would be difficult to chat to the other parents and to listen to the researchers without someone to help look after Max. The usual guilt about not being able to cope without a carer surfaced and I decided that we could manage on our own!( big mistake).

On Saturday afternoon Richard , Max and I set off for the two hour car journey to Castle Bromwich. Those people who know Max well , will know that sitting for two hours in a car is not one of Max's favourite activities. I thought I was well organised and packed a bag with books, the IPad, colouring and snacks. Within 15 minutes Max had exhausted all the activities, thrown the food around the car and things weren't looking too good. He began to become agitated and we seriously considered turning round and returning home when he undid his seatbelt and started flinging himself around the car shouting " I don't want to go hotel, I want play football, I want new football boots now!" . Fortunately he calmed down within a few minutes and slept for the rest of the journey. We arrived at he hotel and managed to check in and get to the meeting venue without too much more trouble.

Once at the meeting we began to chat to the other families and to meet their children. It was lovely to have the opportunity to talk with parents in a similar situation to ours and to see their wonderful children. As the evening progressed it started to dawn on us that Max's difficulties were probably more severe than most. I am not minimizing the difficulties faced by the other children or the impact it clearly has on them and their families ,they are clearly very important, but Max is different to the other kids, his learning disability is more severe and his behavioural problems are significant. We chatted to Prof Jacquemont and Anne and they explained to us that Max's deletion is much larger than the usual deletions. The most common deletions are 0.5 MB and have approximately 29 missing genes Max's is between 7 and 9 MB and contains over 100 missing genes. Prior to this evening we had got an idea that Max's deletion was larger than the typical ones, but didn't really understand the relevance of this. As the evening progressed we realised that we had come to this meeting with false hope. We had been clinging onto a thought or feeling that we were going to meet children who were similar to Max but this wasn't to be the case. Prof Jacquemont carefully and gently explained that Max's deletion is in a different realm to most. The typical deletions on 16 p 11.2 have an incidence of 1 in 1000, Max's deletion has an incidence of 1 in 1000, 000.

We left the meeting reeling. Much of what we had come to understand to relate to had changed.

Nearly a week has passed since then and we have had time to absorb and process the information. Max is still Max, he hasn't changed and nor has our belief that he is the most Unique and amazing little chap you could ever meet. We know that we are fortunate, he is healthy and we do not face the medical complications that many families of Special Needs children face on a daily basis. However this week, the grief has surfaced again. We have both carried on gone to work, looked after Max, smiled and probably to the outside world not seemed any different, but this week that old scar has opened up again and it hurts. We will get over it, pick ourselves and carry on, but just for now those silent tears are being shed again and we need time to lick our wounds and recover and acknowledge that it hurts. 

Piece of string

Human Chromosomes.

It took until Max was 6 to find the answer to the cause of his difficulties, a small deletion

 ( piece missing) from chromosome 16. The road to this discovery was a long and difficult one. I will try to explain the process and the emotions that went with it.

Prior to having a child with a disability  I assumed that if your child was born with a medical condition or disability that there would be a team of Professionals involved who would all use their skills and knowledge to support the family and advise on the correct diagnosis and treatment. Oh how naive I was! 

At sixteen months we were told by a Pediatrician that Max had global developmental delay and low muscle tone. We weren't given a leaflet, the name of a support group or a contact number . We were simply sent home to return for a Child Development Team Assessment several months later. So being the sort of person I am, I immediately turned to technology for answers. I spent hours, searching the internet, scaring myself silly, reading about life limiting conditions that I became convinced Max had. I joined an American Group for parents of kids with hypotonia ( low muscle Tone) and soon began to learn that these conditions are merely descriptions of characteristics that are common in many Genetic Conditions.  I read about the more common conditions that cause these problems and went for the next Pediatrician appointment armed with questions and expectations. He was tested for Fragile X, Prader Willi and several more, I can't remember. Each test involved an agonizing wait for the results only to be told they were  negative. Somewhere along the way we were referred to a Geneticist, again we wrongly thought there will be answers now! Max had a Chromosome test and we was told his " chromosomes were normal". Still no answers the Geneticist was vague, talked in Scientific terms and loved his analogy about chromosomes being like zips. Now I am a qualified Nurse and Health Visitor, science was never my thing but I'm not daft and can usually make sense of most things but i swear i left those appointments with only a small grasp of what we had discussed and still no answers! 

A couple of years passed during which time we convinced ourselves that a diagnosis wasn't important, Max was Max,no diagnosis or label would change that.

We were trying to convince ourselves it didn't matter, we might never know, it wouldn't make any difference and yet............... I felt lonely, isolated, I secretly envied parents whose children had Down's Syndrome, Autism, Cerebral Palsy. They had support groups, information, some idea how their child would progress but we had nothing. We had no reason , no cause, why had this happened to us? to our Boy?  I constantly searched my memory about the pregnancy, did I take some medication?, what about the 2 glasses of champagne I had at Christmas? My age? I was 38 when I had Max and Richard was 41, had our ages caused it? How could we have been so stupid to think it was alright to have a baby at our age? These thoughts filled my mind day and night, but how could I talk about them? I was scared, terrified, more scared than I have ever been in my life. At other times a lack of diagnosis meant denial, if they couldn't find anything wrong, maybe there wasn't anything! maybe he was just a laid back boy, after all Albert Einstein didn't speak till he was 8!  I remembered the nuchal fold test I had at 10 weeks into the pregnancy. The consultant was surprised by the result,the risk of Down's was very low but the risk of Edward's syndrome relatively high in comparison , was this significant? On and on it went, round and round in my head. 

Then one day I came across an organisation called Unique http://www.rarechromo.org/html/home.asp . Unique but not alone.....i started to explore their website and read about rare chromosome disorders and it was like someone had switched on the light. It made sense, Max shared many characteristics in common with the descriptions of the children featured in their publications. I became convinced that Max had a rare chromosome disorder. We went back to the geneticist armed with this new insight, he muttered and mumbled talked about zips and possible brain damage and still we were no further on. Frustrated I rung Unique and spoke to Beverley Searle , she was fantastic, she listened, she took me seriously, she agreed it wasn't in my mind, Max did share many features seen in rare chromosome disorders. Beverley suggested that we attend the up and coming Unique conference, where she could arrange for us to see a Geneticist.

The day of the conference arrived and Richard and I checked in at the hotel where it was taking place. I began to notice people with labels saying things like 1p del or 7 q dup, we collected our labels they said "unknown". I began to panic , we were intruding in a world we didn't belong ! At lunchtime it was our turn to see the Geneticist, we had prepared an information leaflet about Max highlighting  his difficulties and including details of his development and photographs of him. The Geneticist listened intently to us, then she asked permission to discuss Max with her colleagues. We willingly agreed. Later that day she came back to us. she said she was 99% sure that Max had a rare chromosome deletion. She advised that we go to our Geneticist and request a CGH array test. After she left we hugged each other not sure how to feel, our intuition was right but it was still scary.

On our return to Leeds we emailed our Geneticist to request the CGH array test. He told us that we would do it but didn't hold out much hope of it showing anything and that there was a long waiting list for tests of this type. We asked how long we should expect to wait and his response was " its a piece of string".

Several weeks later after offering to pay for the test ourselves and threatening to make a formal complaint  we received a call at 7 pm one evening to tell us that the CGH array had revealed that Max did in fact have a rare Chromosome deletion! No shit Sherlock!

Define Normal

What is "Normal" well to Max its many things including

• eating ice cream and chips at the same time
• standing naked on the bedroom windowsill 
• carrying a dog thrower around despite not owning a dog
• talking to random strangers about their dogs, motorbikes, cars and anything else that has captured his imagination at that moment in time
• being given a " golden Handshake" from Mainstream school at age 6
• starting the car engine at every given opportunity
• crashing said car into house wall
• asking a bald stranger " where your hair gone man"!
• waking at 5 in the morning determined to wash the car, play cricket, visit the neighbours dog,  ride his quad bike or whatever fantastic idea that has popped into his head at that moment
• throwing a major tantrum when parents don't agree to 5 am demands
• calling his parents " stupid poo heads" !
• banging doors and shouting and screaming when cant do what he wants
• being extremely affectionate and giving wonderful hugs
• being adored by everyone who meets him ( well almost everyone)

For us I am really not sure anymore whats " normal" but its certainly not the same " normal" it was 9 years ago. Would I change it? Well if you asked me that 8, 5 or even 3 years ago my answer would almost certainly have been yes, but now today writing down all the things that " define normal " for Max, makes me realise the fun and unpredictability he brings to our lives. Yes its a constant challenge and there are days when a calm , ordinary life appeals but on the whole our " normal" that would be so abnormal to most people is just fine for us. Max is fun, funny, spirited, adventurous and  because of Max we have met friends  and been to many places we would never have been to. He has opened our eyes to a " life less ordinary" and for that I am grateful.